10226 lines
985 KiB
Text
10226 lines
985 KiB
Text
|
|
|
|
|
|
|
|
|
|
<!DOCTYPE html>
|
|
<html xmlns="http://www.w3.org/1999/xhtml" lang="en-us" xml:lang="en-us" >
|
|
|
|
<head>
|
|
|
|
|
|
|
|
<!--
|
|
################################# CRAWLER WARNING #################################
|
|
|
|
- The terms of service and the robots.txt file disallows crawling of this site,
|
|
please see https://omim.org/help/agreement for more information.
|
|
|
|
- A number of data files are available for download at https://omim.org/downloads.
|
|
|
|
- We have an API which you can learn about at https://omim.org/help/api and register
|
|
for at https://omim.org/api, this provides access to the data in JSON & XML formats.
|
|
|
|
- You should feel free to contact us at https://omim.org/contact to figure out the best
|
|
approach to getting the data you need for your work.
|
|
|
|
- WE WILL AUTOMATICALLY BLOCK YOUR IP ADDRESS IF YOU CRAWL THIS SITE.
|
|
|
|
- WE WILL ALSO AUTOMATICALLY BLOCK SUB-DOMAINS AND ADDRESS RANGES IMPLICATED IN
|
|
DISTRIBUTED CRAWLS OF THIS SITE.
|
|
|
|
################################# CRAWLER WARNING #################################
|
|
-->
|
|
|
|
|
|
|
|
<meta http-equiv="content-type" content="text/html; charset=utf-8" />
|
|
<meta http-equiv="cache-control" content="no-cache" />
|
|
<meta http-equiv="pragma" content="no-cache" />
|
|
<meta name="robots" content="index, follow" />
|
|
|
|
|
|
<meta name="viewport" content="width=device-width, initial-scale=1" />
|
|
<meta http-equiv="X-UA-Compatible" content="IE=edge" />
|
|
|
|
|
|
<meta name="title" content="Online Mendelian Inheritance in Man (OMIM)" />
|
|
<meta name="description" content="Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative
|
|
compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text,
|
|
referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes.
|
|
OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries
|
|
contain copious links to other genetics resources." />
|
|
<meta name="keywords" content="Mendelian Inheritance in Man, OMIM, Mendelian diseases, Mendelian disorders, genetic diseases,
|
|
genetic disorders, genetic disorders in humans, genetic phenotypes, phenotype and genotype, disease models, alleles,
|
|
genes, dna, genetics, dna testing, gene testing, clinical synopsis, medical genetics" />
|
|
<meta name="theme-color" content="#333333" />
|
|
<link rel="icon" href="/static/omim/favicon.png" />
|
|
<link rel="apple-touch-icon" href="/static/omim/favicon.png" />
|
|
<link rel="manifest" href="/static/omim/manifest.json" />
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script id='mimBrowserCapability'>
|
|
function _0x5069(){const _0x4b1387=['91sZIeLc','mimBrowserCapability','15627zshTnf','710004yxXedd','34LxqNYj','match','disconnect','1755955rnzTod','observe','1206216ZRfBWB','575728fqgsYy','webdriver','documentElement','close','open','3086704utbakv','7984143PpiTpt'];_0x5069=function(){return _0x4b1387;};return _0x5069();}function _0xe429(_0x472ead,_0x43eb70){const _0x506916=_0x5069();return _0xe429=function(_0xe42949,_0x1aaefc){_0xe42949=_0xe42949-0x1a9;let _0xe6add8=_0x506916[_0xe42949];return _0xe6add8;},_0xe429(_0x472ead,_0x43eb70);}(function(_0x337daa,_0x401915){const _0x293f03=_0xe429,_0x5811dd=_0x337daa();while(!![]){try{const _0x3dc3a3=parseInt(_0x293f03(0x1b4))/0x1*(-parseInt(_0x293f03(0x1b6))/0x2)+parseInt(_0x293f03(0x1b5))/0x3+parseInt(_0x293f03(0x1b0))/0x4+-parseInt(_0x293f03(0x1b9))/0x5+parseInt(_0x293f03(0x1aa))/0x6+-parseInt(_0x293f03(0x1b2))/0x7*(parseInt(_0x293f03(0x1ab))/0x8)+parseInt(_0x293f03(0x1b1))/0x9;if(_0x3dc3a3===_0x401915)break;else _0x5811dd['push'](_0x5811dd['shift']());}catch(_0x4dd27b){_0x5811dd['push'](_0x5811dd['shift']());}}}(_0x5069,0x84d63),(function(){const _0x9e4c5f=_0xe429,_0x363a26=new MutationObserver(function(){const _0x458b09=_0xe429;if(document!==null){let _0x2f0621=![];navigator[_0x458b09(0x1ac)]!==![]&&(_0x2f0621=!![]);for(const _0x427dda in window){_0x427dda[_0x458b09(0x1b7)](/cdc_[a-z0-9]/ig)&&(_0x2f0621=!![]);}_0x2f0621===!![]?document[_0x458b09(0x1af)]()[_0x458b09(0x1ae)]():(_0x363a26[_0x458b09(0x1b8)](),document['getElementById'](_0x458b09(0x1b3))['remove']());}});_0x363a26[_0x9e4c5f(0x1a9)](document[_0x9e4c5f(0x1ad)],{'childList':!![]});}()));
|
|
</script>
|
|
|
|
|
|
|
|
<link rel='preconnect' href='https://cdn.jsdelivr.net' />
|
|
<link rel='preconnect' href='https://cdnjs.cloudflare.com' />
|
|
|
|
<link rel="preconnect" href="https://www.googletagmanager.com" />
|
|
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery@3.7.1/dist/jquery.min.js" integrity="sha256-/JqT3SQfawRcv/BIHPThkBvs0OEvtFFmqPF/lYI/Cxo=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-migrate@3.5.2/dist/jquery-migrate.js" integrity="sha256-ThFcNr/v1xKVt5cmolJIauUHvtXFOwwqiTP7IbgP8EU=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/js/bootstrap.min.js" integrity="sha256-nuL8/2cJ5NDSSwnKD8VqreErSWHtnEP9E7AySL+1ev4=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap.min.css" integrity="sha256-bZLfwXAP04zRMK2BjiO8iu9pf4FbLqX6zitd+tIvLhE=" crossorigin="anonymous">
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap-theme.min.css" integrity="sha256-8uHMIn1ru0GS5KO+zf7Zccf8Uw12IA5DrdEcmMuWLFM=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/moment@2.29.4/min/moment.min.js" integrity="sha256-80OqMZoXo/w3LuatWvSCub9qKYyyJlK0qnUCYEghBx8=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/js/bootstrap-datetimepicker.min.js" integrity="sha256-dYxUtecag9x4IaB2vUNM34sEso6rWTgEche5J6ahwEQ=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/css/bootstrap-datetimepicker.min.css" integrity="sha256-9FNpuXEYWYfrusiXLO73oIURKAOVzqzkn69cVqgKMRY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.js" integrity="sha256-a+PRq3NbyK3G08Boio9X6+yFiHpTSIrbE7uzZvqmDac=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.css" integrity="sha256-JvdVmxv7Q0LsN1EJo2zc1rACwzatOzkyx11YI4aP9PY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/devbridge-autocomplete@1.4.11/dist/jquery.autocomplete.min.js" integrity="sha256-BNpu3uLkB3SwY3a2H3Ue7WU69QFdSRlJVBrDTnVKjiA=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-validation@1.21.0/dist/jquery.validate.min.js" integrity="sha256-umbTaFxP31Fv6O1itpLS/3+v5fOAWDLOUzlmvOGaKV4=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/js-cookie@3.0.5/dist/js.cookie.min.js" integrity="sha256-WCzAhd2P6gRJF9Hv3oOOd+hFJi/QJbv+Azn4CGB8gfY=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdnjs.cloudflare.com/ajax/libs/ScrollToFixed/1.0.8/jquery-scrolltofixed-min.js" integrity="sha512-ohXbv1eFvjIHMXG/jY057oHdBZ/jhthP1U3jES/nYyFdc9g6xBpjDjKIacGoPG6hY//xVQeqpWx8tNjexXWdqA==" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script async src="https://www.googletagmanager.com/gtag/js?id=G-HMPSQC23JJ"></script>
|
|
<script>
|
|
window.dataLayer = window.dataLayer || [];
|
|
function gtag(){window.dataLayer.push(arguments);}
|
|
gtag("js", new Date());
|
|
gtag("config", "G-HMPSQC23JJ");
|
|
</script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script src="/static/omim/js/site.js?version=Zmk5Y1" integrity="sha256-fi9cXywxCO5p0mU1OSWcMp0DTQB4s8ncFR8j+IO840s="></script>
|
|
|
|
|
|
<link rel="stylesheet" href="/static/omim/css/site.css?version=VGE4MF" integrity="sha256-Ta80Qpm3w1S8kmnN0ornbsZxdfA32R42R4ncsbos0YU=" />
|
|
|
|
|
|
<script src="/static/omim/js/entry/entry.js?version=anMvRU" integrity="sha256-js/EBOBZzGDctUqr1VhnNPzEiA7w3HM5JbFmOj2CW84="></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimBootstrapDeviceSize">
|
|
<div class="visible-xs" data-mim-bootstrap-device-size="xs"></div>
|
|
<div class="visible-sm" data-mim-bootstrap-device-size="sm"></div>
|
|
<div class="visible-md" data-mim-bootstrap-device-size="md"></div>
|
|
<div class="visible-lg" data-mim-bootstrap-device-size="lg"></div>
|
|
</div>
|
|
|
|
|
|
|
|
<title>
|
|
|
|
Entry
|
|
|
|
- *609708 - LIPOPROTEIN LIPASE; LPL
|
|
|
|
|
|
- OMIM
|
|
|
|
</title>
|
|
|
|
|
|
|
|
</head>
|
|
|
|
<body>
|
|
<div id="mimBody">
|
|
|
|
|
|
|
|
<div id="mimHeader" class="hidden-print">
|
|
|
|
|
|
|
|
<nav class="navbar navbar-inverse navbar-fixed-top mim-navbar-background">
|
|
<div class="container-fluid">
|
|
|
|
<!-- Brand and toggle get grouped for better mobile display -->
|
|
<div class="navbar-header">
|
|
<button type="button" class="navbar-toggle collapsed" data-toggle="collapse" data-target="#mimNavbarCollapse" aria-expanded="false">
|
|
<span class="sr-only"> Toggle navigation </span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
</button>
|
|
<a class="navbar-brand" href="/"><img alt="OMIM" src="/static/omim/icons/OMIM_davinciman.001.png" height="30" width="30"></a>
|
|
</div>
|
|
|
|
<div id="mimNavbarCollapse" class="collapse navbar-collapse">
|
|
|
|
<ul class="nav navbar-nav">
|
|
|
|
|
|
<li>
|
|
<a href="/help/about"><span class="mim-navbar-menu-font"> About </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimStatisticsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Statistics <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="statisticsDropdown">
|
|
<li>
|
|
<a href="/statistics/update"> Update List </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/entry"> Entry Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/geneMap"> Phenotype-Gene Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/paceGraph"> Pace of Gene Discovery Graph </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDownloadsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Downloads <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="downloadsDropdown">
|
|
|
|
<li>
|
|
<a href="/downloads/"> Register for Downloads </a>
|
|
</li>
|
|
<li>
|
|
<a href="/api"> Register for API Access </a>
|
|
</li>
|
|
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="/contact?mimNumber=609708"><span class="mim-navbar-menu-font"> Contact Us </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li>
|
|
|
|
<a href="/mimmatch/">
|
|
|
|
<span class="mim-navbar-menu-font">
|
|
<span class="mim-tip-bottom" qtip_title="<strong>MIMmatch</strong>" qtip_text="MIMmatch is a way to follow OMIM entries that interest you and to find other researchers who may share interest in the same entries. <br /><br />A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.">
|
|
MIMmatch
|
|
</span>
|
|
</span>
|
|
</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDonateDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Donate <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="donateDropdown">
|
|
<li>
|
|
<a href="https://secure.jhu.edu/form/OMIM" target="_blank" onclick="gtag('event', 'mim_donation', {'destination': 'secure.jhu.edu'})"> Donate! </a>
|
|
</li>
|
|
<li>
|
|
<a href="/donors"> Donors </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimHelpDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Help <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="helpDropdown">
|
|
<li>
|
|
<a href="/help/faq"> Frequently Asked Questions (FAQs) </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/search"> Search Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/linking"> Linking Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/api"> API Help </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/external"> External Links </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/agreement"> Use Agreement </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/copyright"> Copyright </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="#" id="mimShowTips" class="mim-tip-hint" title="Click to reveal all tips on the page. You can also hover over individual elements to reveal the tip."><span class="mim-navbar-menu-font"><span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span></span></a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimSearch" class="hidden-print">
|
|
|
|
<div class="container">
|
|
|
|
<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
|
|
|
|
<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
|
|
<input type="hidden" id="mimSearchStart" name="start" value="1" />
|
|
<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
|
|
<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
|
|
<div class="form-group">
|
|
<div class="input-group">
|
|
<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
|
|
<div class="input-group-btn">
|
|
<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
|
|
<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
|
|
<ul class="dropdown-menu dropdown-menu-right">
|
|
<li class="dropdown-header">
|
|
Advanced Search
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/entry"> OMIM </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/geneMap"> Gene Map </a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/history"> Search History </a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
</div>
|
|
</div>
|
|
<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="col-lg-4 col-md-4 col-sm-4 col-xs-4">
|
|
<span class="small">
|
|
|
|
|
|
|
|
|
|
|
|
<span class="hidden-sm hidden-xs">
|
|
|
|
|
|
Display:
|
|
|
|
|
|
<label style="font-weight: normal"><input type="checkbox" id="mimToggleChangeBars" checked /> Change Bars </label>
|
|
|
|
|
|
</span>
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</form>
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
<!-- <div id="mimSearch"> -->
|
|
|
|
|
|
|
|
|
|
<div id="mimContent">
|
|
|
|
|
|
|
|
<div class="container hidden-print">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
|
|
<div id="mimAlertBanner">
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
|
|
|
|
<div id="mimFloatingTocMenu" class="small" role="navigation">
|
|
|
|
<p>
|
|
<span class="h4">*609708</span>
|
|
<br />
|
|
<strong>Table of Contents</strong>
|
|
</p>
|
|
|
|
<nav>
|
|
<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
|
|
|
|
<li role="presentation">
|
|
<a href="#title"><strong>Title</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#text"><strong>Text</strong></a>
|
|
</li>
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#cloning">Cloning and Expression</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#geneStructure">Gene Structure</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#mapping">Mapping</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#geneFunction">Gene Function</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#molecularGenetics">Molecular Genetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#populationGenetics">Population Genetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#animalModel">Animal Model</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
|
|
</li>
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="/allelicVariants/609708">Table View</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#references"><strong>References</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#contributors"><strong>Contributors</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#creationDate"><strong>Creation Date</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#editHistory"><strong>Edit History</strong></a>
|
|
</li>
|
|
|
|
</ul>
|
|
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimFloatingLinksMenu">
|
|
|
|
<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
|
|
<h4 class="panel-title">
|
|
<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
|
|
<div style="display: table-row">
|
|
<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
|
|
|
|
<div style="display: table-cell;">External Links</div>
|
|
</div>
|
|
</a>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
|
|
<div id="mimExternalLinksFold" class="collapse in">
|
|
|
|
<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000175445;t=ENST00000650287" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=4023" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
|
|
|
|
|
|
<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=609708" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000175445;t=ENST00000650287" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000237" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000237" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
|
|
|
|
|
|
<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=609708" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="https://hprd.org/summary?hprd_id=01999&isoform_id=01999_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.proteinatlas.org/search/LPL" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/protein/34383,34405,126314,242988,242990,307138,553523,3293305,4379028,4557727,15030193,21309829,30582291,48146225,62896487,68132366,119584168,158261603,189065397,193787313,221041670,1044897664,1227111937" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.uniprot.org/uniprotkb/P06858" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Gene Info</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="http://biogps.org/#goto=genereport&id=4023" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000175445;t=ENST00000650287" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=LPL" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=LPL" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+4023" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
|
|
|
|
|
|
|
|
<dd><a href="http://v1.marrvel.org/search/gene/LPL" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://monarchinitiative.org/NCBIGene:4023" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gene/4023" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr8&hgg_gene=ENST00000650287.1&hgg_start=19939253&hgg_end=19967259&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Clinical Resources</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://medlineplus.gov/genetics/gene/lpl" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=609708[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=609708[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000175445" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ebi.ac.uk/gwas/search?query=LPL" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.gwascentral.org/search?q=LPL" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=LPL" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=LPL&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.pharmgkb.org/gene/PA232" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Animal Models</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.alliancegenome.org/gene/HGNC:6677" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://flybase.org/reports/FBgn0004045.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.mousephenotype.org/data/genes/MGI:96820" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="http://v1.marrvel.org/search/gene/LPL#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="http://www.informatics.jax.org/marker/MGI:96820" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gene/4023/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.orthodb.org/?ncbi=4023" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://zfin.org/ZDB-GENE-230322-2" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Cellular Pathways</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4023" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://reactome.org/content/query?q=LPL&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<span>
|
|
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
|
|
|
|
</span>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
|
|
|
|
<div>
|
|
|
|
<a id="title" class="mim-anchor"></a>
|
|
|
|
<div>
|
|
<a id="number" class="mim-anchor"></a>
|
|
<div class="text-right">
|
|
|
|
|
|
|
|
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
|
|
|
|
<strong>SNOMEDCT:</strong> 267435002, 275598004, 403827000<br />
|
|
|
|
|
|
<strong>ICD10CM:</strong> E78.3<br />
|
|
|
|
|
|
<strong>ICD9CM:</strong> 272.3<br />
|
|
|
|
|
|
|
|
|
|
">ICD+</a>
|
|
|
|
</div>
|
|
<div>
|
|
<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
609708
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
LIPOPROTEIN LIPASE; LPL
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=LPL" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">LPL</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/8/91?start=-3&limit=10&highlight=91">8p21.3</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr8:19939253-19967259&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">8:19,939,253-19,967,259</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=238600,144250,238600" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/8/91?start=-3&limit=10&highlight=91">
|
|
8p21.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
[High density lipoprotein cholesterol level QTL 11]
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/238600"> 238600 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Combined hyperlipidemia, familial
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/144250"> 144250 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Lipoprotein lipase deficiency
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/238600"> 238600 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/609708" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/609708" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
|
|
|
<h4>
|
|
|
|
<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="cloning" class="mim-anchor"></a>
|
|
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimCloningFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>Lipoprotein lipase has been difficult to purify, and its protein sequence remained undetermined until it could be deduced from the nucleotide sequence of its cDNA. <a href="#89" class="mim-tip-reference" title="Wion, K. L., Kirchgessner, T. G., Lusis, A. J., Schotz, M. C., Lawn, R. M. <strong>Human lipoprotein lipase complementary DNA sequence.</strong> Science 235: 1638-1641, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3823907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3823907</a>] [<a href="https://doi.org/10.1126/science.3823907" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3823907">Wion et al. (1987)</a> elucidated the cDNA sequence of human LPL. The gene encodes a protein of 475 amino acids that becomes a mature protein of 448 residues after cleavage of a signal peptide. Analysis of the sequence indicated that human lipoprotein lipase, hepatic lipase (<a href="/entry/151670">151670</a>), and pancreatic lipase (<a href="/entry/246600">246600</a>) are members of a gene family. <a href="#54" class="mim-tip-reference" title="Kirchgessner, T. G., Svenson, K. L., Lusis, A. J., Schotz, M. C. <strong>The sequence of cDNA encoding lipoprotein lipase: a member of a lipase gene family.</strong> J. Biol. Chem. 262: 8463-8466, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3597382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3597382</a>]" pmid="3597382">Kirchgessner et al. (1987)</a> isolated and sequenced cDNA for lipoprotein lipase. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3597382+3823907" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="geneStructure" class="mim-anchor"></a>
|
|
<h4 href="#mimGeneStructureFold" id="mimGeneStructureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimGeneStructureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimGeneStructureFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#18" class="mim-tip-reference" title="Deeb, S. S., Peng, R. <strong>Structure of the human lipoprotein lipase gene.</strong> Biochemistry 28: 4131-4135, 1989. Note: Erratum: Biochemistry 28: 6786 only, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2765475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2765475</a>] [<a href="https://doi.org/10.1021/bi00436a001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2765475">Deeb and Peng (1989)</a> found that the LPL gene contains 10 exons spanning 30 kb; the last exon encodes the long (1,948-bp) untranslated 3-prime end of 2 mRNA species, of about 3.35 and 3.75 kb, that result from alternative use of 2 polyadenylation signals (<a href="#89" class="mim-tip-reference" title="Wion, K. L., Kirchgessner, T. G., Lusis, A. J., Schotz, M. C., Lawn, R. M. <strong>Human lipoprotein lipase complementary DNA sequence.</strong> Science 235: 1638-1641, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3823907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3823907</a>] [<a href="https://doi.org/10.1126/science.3823907" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3823907">Wion et al., 1987</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3823907+2765475" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#53" class="mim-tip-reference" title="Kirchgessner, T. G., Chuat, J.-C., Heinzmann, C., Etienne, J., Guilhot, S., Svenson, K., Ameis, D., Pilon, C., d'Auriol, L., Andalibi, A., Schotz, M. C., Galibert, F., Lusis, A. J. <strong>Organization of the human lipoprotein lipase gene and evolution of the lipase gene family.</strong> Proc. Nat. Acad. Sci. 86: 9647-9651, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2602366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2602366</a>] [<a href="https://doi.org/10.1073/pnas.86.24.9647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2602366">Kirchgessner et al. (1989)</a> demonstrated that the first exon encodes the 5-prime untranslated region, the signal peptide, and the first 2 amino acids of the mature protein. The next 8 exons encode the remaining 446 amino acids, and the tenth exon encodes the long 3-prime untranslated region of 1,948 nucleotides. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2602366" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#71" class="mim-tip-reference" title="Monsalve, M. V., Henderson, H., Roederer, G., Julien, P., Deeb, S., Kastelein, J. J. P., Peritz, L., Devlin, R., Bruin, T., Murthy, M. R. V., Gagne, C., Davignon, J., Lupien, P. J., Brunzell, J. D., Hayden, M. R. <strong>A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries.</strong> J. Clin. Invest. 86: 728-734, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1975597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1975597</a>] [<a href="https://doi.org/10.1172/JCI114769" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1975597">Monsalve et al. (1990)</a> stated that the LPL gene contains 10 exons spanning about 30 kb, with exon 10 specifying the entire 3-prime untranslated sequence (<a href="#18" class="mim-tip-reference" title="Deeb, S. S., Peng, R. <strong>Structure of the human lipoprotein lipase gene.</strong> Biochemistry 28: 4131-4135, 1989. Note: Erratum: Biochemistry 28: 6786 only, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2765475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2765475</a>] [<a href="https://doi.org/10.1021/bi00436a001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2765475">Deeb and Peng, 1989</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1975597+2765475" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="mapping" class="mim-anchor"></a>
|
|
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMappingFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#81" class="mim-tip-reference" title="Sparkes, R. S., Zollman, S., Klisak, I., Kirchgessner, T. G., Komaromy, M. C., Mohandas, T., Schotz, M. C., Lusis, A. J. <strong>Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21.</strong> Genomics 1: 138-144, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3692485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3692485</a>] [<a href="https://doi.org/10.1016/0888-7543(87)90005-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3692485">Sparkes et al. (1987)</a> used a cDNA probe for lipoprotein lipase to map the LPL gene to 8p22 by Southern blot analysis of somatic cell hybrids and by in situ hybridization. <a href="#69" class="mim-tip-reference" title="Mattei, M. G., Etienne, J., Chuat, J. C., Nguyen, V. C., Brault, D., Bernheim, A., Galibert, F. <strong>Assignment of the human lipoprotein lipase (LPL) gene to chromosome band 8p22.</strong> Cytogenet. Cell Genet. 63: 45-46, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8449037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8449037</a>] [<a href="https://doi.org/10.1159/000133499" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8449037">Mattei et al. (1993)</a> likewise used in situ hybridization to map the LPL gene to 8p22. Linkage studies by <a href="#22" class="mim-tip-reference" title="Emi, M., Asaoka, H., Matsumoto, A., Itakura, H., Kurihara, Y., Wada, Y., Kanamori, H., Yazaki, Y., Takahashi, E., Lepert, M., Lalouel, J.-M., Kodama, T., Mukai, T. <strong>Structure, organization, and chromosomal mapping of the human macrophage scavenger receptor gene.</strong> J. Biol. Chem. 268: 2120-2125, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8093617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8093617</a>]" pmid="8093617">Emi et al. (1993)</a> indicated that the LPL gene is located about 11 cM proximal to the MSR1 locus (<a href="/entry/153622">153622</a>), which is also located in the 8p22 band. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3692485+8093617+8449037" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="geneFunction" class="mim-anchor"></a>
|
|
<h4 href="#mimGeneFunctionFold" id="mimGeneFunctionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimGeneFunctionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimGeneFunctionFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#61" class="mim-tip-reference" title="Ling, C., Svensson, L., Oden, B., Weijdegard, B., Eden, B., Eden, S., Billig, H. <strong>Identification of functional prolactin (PRL) receptor gene expression: PRL inhibits lipoprotein lipase activity in human white adipose tissue.</strong> J. Clin. Endocr. Metab. 88: 1804-1808, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12679477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12679477</a>] [<a href="https://doi.org/10.1210/jc.2002-021137" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12679477">Ling et al. (2003)</a> demonstrated that PRL (<a href="/entry/176760">176760</a>) directly affects and inhibits the LPL activity in human adipose tissue via functional PRL receptors (<a href="/entry/176761">176761</a>), suggesting an important role for PRL in regulating adipose tissue metabolism during lactation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12679477" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Lipoprotein lipase contains 4 disulfide bridges, 3 of which stabilize the folding of the N-terminal section, with the fourth being in the smaller C-terminal domain. <a href="#62" class="mim-tip-reference" title="Lo, J. Y., Smith, L. C., Chan, L. <strong>Lipoprotein lipase: role of intramolecular disulfide bonds in enzyme catalysis.</strong> Biochem. Biophys. Res. Commun. 206: 266-271, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7818530/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7818530</a>] [<a href="https://doi.org/10.1006/bbrc.1995.1037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7818530">Lo et al. (1995)</a> examined the role of disulfide bridging in the functional stability of LPL in vitro by generating variants with individually substituted cysteine pairs. While disulfide bridging in the N-terminal domain was found to be critical for catalytic function, substitution of the C-terminal disulfide seemed to have minimal effect on lipolytic activity, suggesting to the authors that the 2 domains can function independently in enzyme catalysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7818530" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The diabetic heart switches to exclusively using fatty acid for energy and does so by multiple mechanisms including hydrolysis of lipoproteins by LPL positioned at the vascular lumen. Using a rat model of diabetes, <a href="#51" class="mim-tip-reference" title="Kim, M. S., Wang, F., Puthanveetil, P., Kewalramani, G., Hosseini-Beheshti, E., Ng, N., Wang, Y., Kumar, U., Innis, S., Proud, C. G., Abrahani, A., Rodrigues, B. <strong>Protein kinase D is a key regulator of cardiomyocyte lipoprotein lipase secretion after diabetes.</strong> Circ. Res. 103: 252-260, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18583709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18583709</a>] [<a href="https://doi.org/10.1161/CIRCRESAHA.108.178681" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18583709">Kim et al. (2008)</a> showed that the increase in Lpl paralleled phosphorylation of Hsp25 (HSPB1; <a href="/entry/602195">602195</a>), decreasing its association with protein kinase C (PKC)-delta (PRKCD; <a href="/entry/176977">176977</a>) and allowing PKC-delta to activate protein kinase D (PKD, or PRKD1; <a href="/entry/605435">605435</a>), which regulates fission of vesicles from the Golgi membrane. Incubating control rat myocytes with high glucose and palmitic acid also increased phosphorylation of Hsp25, PKC-delta, and PKD and induced LPL activity in a pattern similar to that seen with diabetes. <a href="#51" class="mim-tip-reference" title="Kim, M. S., Wang, F., Puthanveetil, P., Kewalramani, G., Hosseini-Beheshti, E., Ng, N., Wang, Y., Kumar, U., Innis, S., Proud, C. G., Abrahani, A., Rodrigues, B. <strong>Protein kinase D is a key regulator of cardiomyocyte lipoprotein lipase secretion after diabetes.</strong> Circ. Res. 103: 252-260, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18583709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18583709</a>] [<a href="https://doi.org/10.1161/CIRCRESAHA.108.178681" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18583709">Kim et al. (2008)</a> concluded that, in diabetes, PKD control of LPL requires dissociation of HSP25 from PKC-delta, association between PKC-delta and PKD, and vesicle fission. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18583709" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Dietary fats are packaged by intestine into triglyceride-rich lipoproteins called chylomicrons. The triglycerides in chylomicrons are hydrolyzed by LPL along the luminal surface of capillaries, mainly in heart, skeletal muscle, and adipose tissue. <a href="#4" class="mim-tip-reference" title="Beigneux, A. P., Davies, B. S. J., Gin, P., Weinstein, M. M., Farber, E., Qiao, X., Peale, F., Bunting, S., Walzem, R. L., Wong, J. S., Blaner, W. S., Ding, Z.-M., Melford, K., Wongsiriroj, N., Shu, X., de Sauvage, F., Ryan, R. O., Fong, L. G., Bensadoun, A., Young, S. G. <strong>Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons.</strong> Cell Metab. 5: 279-291, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17403372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17403372</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17403372[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cmet.2007.02.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17403372">Beigneux et al. (2007)</a> showed that transfection of mouse Gpihbp1 (<a href="/entry/612757">612757</a>) in CHO cells conferred the ability to bind LPL and chylomicrons. Binding of LPL to Gpihbp1 was eliminated by heparin, which releases LPL from endothelial cells, and cell surface Gpihbp1 was released by phospholipase C (see PLCG1; <a href="/entry/172420">172420</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17403372" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using cells grown on transwells, <a href="#15" class="mim-tip-reference" title="Davies, B. S. J., Goulbourne, C. N., Barnes, R. H., II, Turlo, K. A., Gin, P., Vaughan, S., Vaux, D. J., Bensadoun, A., Beigneux, A. P., Fong, L. G., Young, S. G. <strong>Assessing mechanisms of GPIHBP1 and lipoprotein lipase movement across endothelial cells.</strong> J. Lipid Res. 53: 2690-2697, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23008484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23008484</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23008484[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1194/jlr.M031559" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23008484">Davies et al. (2012)</a> found that mouse Gpihbp1 could transport human LPL across rat heart endothelial cells in either the basolateral-to-apical direction or the apical-to-basolateral direction. Electron microscopy of rat and mouse cells revealed localization of Gpihbp1 and LPL in invaginations of the plasma membrane and in cytoplasmic vesicles. Inhibition of vesicular transport inhibited LPL internalization, whereas LPL internalization remained intact in mouse endothelial cells lacking caveolin-1 (CAV1; <a href="/entry/601047">601047</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23008484" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="molecularGenetics" class="mim-anchor"></a>
|
|
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>Funke et al. (<a href="#28" class="mim-tip-reference" title="Funke, H., Klug, J., Assmann, G. <strong>Hind III RFLP in the lipoprotein lipase gene, (LPL).</strong> Nucleic Acids Res. 15: 9102, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2891110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2891110</a>] [<a href="https://doi.org/10.1093/nar/15.21.9102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2891110">1987</a>, <a href="#29" class="mim-tip-reference" title="Funke, H., Reckwerth, A., Stapenhorst, D., Schulze Beiering, M., Jansen, M., Assmann, G. <strong>Bst NI (Eco RII) RFLP in the lipoprotein lipase gene (LPL).</strong> Nucleic Acids Res. 16: 2741, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2896338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2896338</a>] [<a href="https://doi.org/10.1093/nar/16.6.2741" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2896338">1988</a>), <a href="#40" class="mim-tip-reference" title="Heinzmann, C., Ladias, J., Antonarakis, S., Kirchgessner, T., Schotz, M., Lusis, A. J. <strong>RFLP for the human lipoprotein lipase (LPL) gene: HindIII.</strong> Nucleic Acids Res. 15: 6763, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2888089/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2888089</a>] [<a href="https://doi.org/10.1093/nar/15.16.6763" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2888089">Heinzmann et al. (1987)</a>, and <a href="#60" class="mim-tip-reference" title="Li, S., Oka, K., Galton, D., Stocks, J. <strong>Pvu-II RFLP at the human lipoprotein lipase (LPL) gene locus.</strong> Nucleic Acids Res. 16: 2358, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2895912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2895912</a>] [<a href="https://doi.org/10.1093/nar/16.5.2358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2895912">Li et al. (1988)</a> identified RFLPs related to the LPL gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2888089+2896338+2895912+2891110" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#45" class="mim-tip-reference" title="Henderson, H. E., Ma, Y., Hassan, M. F., Monsalve, M. V., Marais, A. D., Winkler, F., Gubernator, K., Peterson, J., Brunzell, J. D., Hayden, M. R. <strong>Amino acid substitution (ile194-to-thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands: support for a multicentric origin.</strong> J. Clin. Invest. 87: 2005-2011, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1674945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1674945</a>] [<a href="https://doi.org/10.1172/JCI115229" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1674945">Henderson et al. (1991)</a> identified the gene mutation in 116 of 150 mutant alleles in 75 separate probands with documented LPL deficiency (<a href="/entry/238600">238600</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1674945" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Although heterozygotes do not usually display the gross phenotypic features of lipoprotein lipase deficiency such as chylomicronemia, xanthomata, or episodes of abdominal pain, they have only half-normal LPL activity, which might not suffice to keep the plasma triglyceride concentration within normal limits when stress is placed on the plasma lipid transport system. <a href="#87" class="mim-tip-reference" title="Wilson, D. E., Emi, M., Iverius, P.-H., Hata, A., Wu, L. L., Hillas, E., Williams, R. R., Lalouel, J.-M. <strong>Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation.</strong> J. Clin. Invest. 86: 735-750, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2394828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2394828</a>] [<a href="https://doi.org/10.1172/JCI114770" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2394828">Wilson et al. (1990)</a> found that heterozygotes for a gly188-to-glu mutation (<a href="#0002">609708.0002</a>) in the LPL gene were prone to moderate fasting hypertriglyceridemia if secondary factors such as obesity, hyperinsulinemia, or use of lipid-raising drugs were superimposed on the genetic defect. In members of 2 Austrian families with the same missense mutation at codon 188, <a href="#70" class="mim-tip-reference" title="Miesenbock, G., Holzl, B., Foger, B., Brandstatter, E., Paulweber, B., Sandhofer, F., Patsch, J. R. <strong>Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities.</strong> J. Clin. Invest. 91: 448-455, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8432854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8432854</a>] [<a href="https://doi.org/10.1172/JCI116222" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8432854">Miesenbock et al. (1993)</a> found that, even in the absence of such secondary factors, a trivial challenge like postprandial lipemia can uncover heterozygous carriage of a defective LPL gene. They referred to the metabolic handicap as 'impaired TG tolerance.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2394828+8432854" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#41" class="mim-tip-reference" title="Heizmann, C., Kirchgessner, T., Kwiterovich, P. O., Ladias, J. A., Derby, C., Antonarakis, S. E., Lusis, A. J. <strong>DNA polymorphism haplotypes of the human lipoprotein lipase gene: possible association with high density lipoprotein levels.</strong> Hum. Genet. 86: 578-584, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1673959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1673959</a>] [<a href="https://doi.org/10.1007/BF00201544" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1673959">Heizmann et al. (1991)</a> studied DNA polymorphism haplotypes and found possibly significant associations between them and levels of high density lipoprotein (HDL) cholesterol and total plasma cholesterol. In contrast to a previous report, they found no significant associations with levels of plasma triglycerides. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1673959" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Benlian, P., Foubert, L., Gagne, E., Bernard, L., De Gennes, J. L., Langlois, S., Robinson, W., Hayden, M. <strong>Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.</strong> Am. J. Hum. Genet. 59: 431-436, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8755931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8755931</a>]" pmid="8755931">Benlian et al. (1996)</a> reported a female patient with familial chylomicronemia resulting from complete LPL deficiency due to homozygosity for a frameshift mutation in exon 2 of the LPL gene. The child had normal development. The father was a heterozygous carrier of the mutation, and no gene mutation was detected in the mother. The proband was homozygous for 17 informative markers spanning both arms of chromosome 8 and specifically for the haplotype containing the paternally derived LPL gene. This showed that homozygosity for the defective mutation resulted from a complete paternal isodisomy for chromosome 8. <a href="#6" class="mim-tip-reference" title="Benlian, P., Foubert, L., Gagne, E., Bernard, L., De Gennes, J. L., Langlois, S., Robinson, W., Hayden, M. <strong>Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.</strong> Am. J. Hum. Genet. 59: 431-436, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8755931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8755931</a>]" pmid="8755931">Benlian et al. (1996)</a> noted also that this was the first report of uniparental disomy unmasked by LPL deficiency and that the case described by them indicated that normal development can occur with 2 paternally derived copies of chromosome 8. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8755931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Benlian, P., De Gennes, J. L., Foubert, L., Zhang, H., Gagne, S. E., Hayden, M. <strong>Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene.</strong> New Eng. J. Med. 335: 848-854, 1996. Note: Erratum: New Eng. J. Med. 336: 451 only, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8778602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8778602</a>] [<a href="https://doi.org/10.1056/NEJM199609193351203" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8778602">Benlian et al. (1996)</a> described 4 patients (2 men and 2 women) with missense mutations that profoundly impaired lipolysis but preserved the mass of lipoprotein lipase. In the 4, there were signs and symptoms of atherosclerosis before the age of 55. One of the patients was a 54-year-old female who since childhood had had episodes of abdominal pain induced by high intake of fat. She was a compound heterozygote for 2 known mutations: gly188 to glu (<a href="#0002">609708.0002</a>) and arg243 to cys (<a href="#0031">609708.0031</a>). The authors commented that lipoprotein lipase deficiency did not provide complete protection against atherosclerosis, as had been stated by others. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8778602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#91" class="mim-tip-reference" title="Wittrup, H. H., Tybjaerg-Hansen, A., Abildgaard, S., Steffensen, R., Schnohr, P., Nordestgaard, B. G. <strong>A common substitution (asn291ser) in lipoprotein lipase is associated with increased risk of ischemic heart disease.</strong> J. Clin. Invest. 99: 1606-1613, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9120004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9120004</a>] [<a href="https://doi.org/10.1172/JCI119323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9120004">Wittrup et al. (1997)</a> tested 9,214 men and women from a general population sample and 948 patients with ischemic heart disease (IHD) for the asn291-to-ser substitution (<a href="#0033">609708.0033</a>) in lipoprotein lipase. The allele frequency in the general population was 0.024 and 0.026 for women and men, respectively. In comparison with noncarriers, female heterozygous probands had increased plasma triglycerides, while HDL cholesterol was reduced in both female and male carriers. A similar phenotype was found in 6 homozygous carriers. On multiple logistic regression analysis, plasma triglycerides and HDL cholesterol were independent predictors of IHD in both genders. On univariate analysis, odds ratios for IHD in probands were 1.89 in women and 0.90 in men, and on multivariate analysis were 1.98 in women and 1.02 in men. This study demonstrated that a single common mutation in the LPL gene is associated with elevated plasma triglycerides and reduced HDL cholesterol levels, whereby carriers, in particular women, seem to be predisposed to IHD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9120004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#68" class="mim-tip-reference" title="Mailly, F., Palmen, J., Muller, D. P. R., Gibbs, T., Lloyd, J., Brunzell, J., Durrington, P., Mitropoulos, K., Betteridge, J., Watts, G., Lithell, H., Angelico, F., Humphries, S. E., Talmud, P. J. <strong>Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy.</strong> Hum. Mutat. 10: 465-473, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9401010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9401010</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)10:6<465::AID-HUMU8>3.0.CO;2-C" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9401010">Mailly et al. (1997)</a> cataloged the LPL gene mutations identified in 20 unrelated patients from the UK, Sweden, and Italy. <a href="#68" class="mim-tip-reference" title="Mailly, F., Palmen, J., Muller, D. P. R., Gibbs, T., Lloyd, J., Brunzell, J., Durrington, P., Mitropoulos, K., Betteridge, J., Watts, G., Lithell, H., Angelico, F., Humphries, S. E., Talmud, P. J. <strong>Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy.</strong> Hum. Mutat. 10: 465-473, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9401010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9401010</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)10:6<465::AID-HUMU8>3.0.CO;2-C" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9401010">Mailly et al. (1997)</a> identified the mutation in 29 of 40 (72.5%) alleles. The gly188-to-glu mutation (<a href="#0002">609708.0002</a>) described by <a href="#71" class="mim-tip-reference" title="Monsalve, M. V., Henderson, H., Roederer, G., Julien, P., Deeb, S., Kastelein, J. J. P., Peritz, L., Devlin, R., Bruin, T., Murthy, M. R. V., Gagne, C., Davignon, J., Lupien, P. J., Brunzell, J. D., Hayden, M. R. <strong>A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries.</strong> J. Clin. Invest. 86: 728-734, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1975597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1975597</a>] [<a href="https://doi.org/10.1172/JCI114769" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1975597">Monsalve et al. (1990)</a> was found in 7 individuals (12 of 40 alleles). In addition, 3 patients were heterozygous for the 2-kb insertion described by <a href="#57" class="mim-tip-reference" title="Langlois, S., Deeb, S., Brunzell, J. D., Kastelein, J. J., Hayden, M. R. <strong>A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency.</strong> Proc. Nat. Acad. Sci. 86: 948-952, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2536938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2536938</a>] [<a href="https://doi.org/10.1073/pnas.86.3.948" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2536938">Langlois et al. (1989)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9401010+1975597+2536938" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#73" class="mim-tip-reference" title="Nickerson, D. A., Taylor, S. L., Weiss, K. M., Clark, A. G., Hutchinson, R. G., Stengard, J., Salomaa, V., Vartiainen, E., Boerwinkle, E., Sing, C. F. <strong>DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene.</strong> Nature Genet. 19: 233-240, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662394</a>] [<a href="https://doi.org/10.1038/907" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662394">Nickerson et al. (1998)</a> reported the complete sequence of a fraction of the LPL gene in 71 individuals (142 chromosomes) from 3 populations that may have different histories affecting the organization of the sequence variation. They found that 88 sites in this 9.7 kb varied among individuals from these 3 populations. Of these, 79 were single-nucleotide polymorphisms (SNPs) and 9 sites involved insertion-deletion variations. The average nucleotide diversity across the region was 0.2% (or on average 1 variable site every 500 bp). At 34 of these sites the variation was found in only 1 of the populations, reflecting the different population and mutational histories. If LPL is a typical human gene, the pattern of sequence variation that exists in introns as well as exons, even for the smaller number of samples considered here, will present challenges for the identification of sites, or combinations of sites, that influence variation in risk of disease in the population at large. LPL had been chosen for study because it is a candidate susceptibility gene for cardiovascular disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9662394" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with type I hyperlipoproteinemia (<a href="/entry/238600">238600</a>) suffering from recurrent severe pancreatitis, <a href="#46" class="mim-tip-reference" title="Hoffmann, M. M., Jacob, S., Luft, D., Schmulling, R.-M., Rett, K., Marz, W., Haring, H.-U., Matthaei, S. <strong>Type I hyperlipoproteinemia due to a novel loss of function mutation of lipoprotein lipase, cys239-trp, associated with recurrent severe pancreatitis.</strong> J. Clin. Endocr. Metab. 85: 4795-4798, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11134145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11134145</a>] [<a href="https://doi.org/10.1210/jcem.85.12.7069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11134145">Hoffmann et al. (2000)</a> found a cys239-to-trp mutation in exon 6 of the LPL gene (<a href="#0040">609708.0040</a>). The mutation prevents the formation of the second disulfide bridge of LPL, which is an essential part of the lid covering the catalytic center. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11134145" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Clee, S. M., Loubser, O., Collins, J., Kastelein, J. J. P., Hayden, M. R. <strong>The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides, and reduced risk of coronary artery disease.</strong> Clin. Genet. 60: 293-300, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11683775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11683775</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2001.600407.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11683775">Clee et al. (2001)</a> stated that 3 common SNPs had been identified in the coding region of the LPL gene that are associated with small changes in enzyme function and affect plasma high density lipoprotein cholesterol (HDL-C) and triglyceride (TG) levels and the severity of coronary artery disease. The N291S (<a href="#0033">609708.0033</a>) and D9N (<a href="#0035">609708.0035</a>) substitutions have carrier frequencies of approximately 2 to 5% and 1 to 4% in populations of European descent, respectively. These variants have been reported in association with hyperlipidemia, specifically, increased TG and decreased HDL-C. In many studies, carriers of these variants have been found to have an increased risk of coronary artery disease and an increased risk of cerebrovascular disease. The third common variant of LPL, S447X (<a href="#0014">609708.0014</a>), results in the generation of a premature stop codon, truncating the last 2 amino acids of the mature LPL protein. This variant has been reported at carrier frequencies of approximately 10 to 25% (<a href="#26" class="mim-tip-reference" title="Fisher, R. M., Humphries, S. E., Talmud, P. J. <strong>Common variation in the lipoprotein lipase gene: effects on plasma lipids and risk of atherosclerosis.</strong> Atherosclerosis 135: 145-159, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9430364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9430364</a>] [<a href="https://doi.org/10.1016/s0021-9150(97)00199-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9430364">Fisher et al., 1997</a>), with even higher frequencies in some populations. <a href="#14" class="mim-tip-reference" title="Clee, S. M., Loubser, O., Collins, J., Kastelein, J. J. P., Hayden, M. R. <strong>The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides, and reduced risk of coronary artery disease.</strong> Clin. Genet. 60: 293-300, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11683775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11683775</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2001.600407.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11683775">Clee et al. (2001)</a> reported that carriers of the S447X variant had decreased TG and a trend toward decreased vascular disease compared to noncarriers. Also, carriers of this SNP had decreased diastolic blood pressure compared to noncarriers, evident in both men and women, youths and adults, with similar trends for systolic blood pressure. Furthermore, the decrease in blood pressure appeared to be independent of the decrease in TG, suggesting that the LPL protein may have a direct influence on the vascular wall. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9430364+11683775" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#31" class="mim-tip-reference" title="Gilbert, B., Rouis, M., Griglio, S., de Lumley, L., Laplaud, P.-M. <strong>Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation gly88-to-glu in the human LPL gene and review of reported mutations: 75% are clustered in exons 5 and 6.</strong> Ann. Genet. 44: 25-32, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11334614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11334614</a>] [<a href="https://doi.org/10.1016/s0003-3995(01)01037-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11334614">Gilbert et al. (2001)</a> found reports of 221 mutations involved in familial LPL deficiency. The G188E mutation in exon 5 (<a href="#0002">609708.0002</a>) was found in 23.5% of cases and 74.6% of the mutations were clustered in exons 5 and 6. Based on these observations, <a href="#31" class="mim-tip-reference" title="Gilbert, B., Rouis, M., Griglio, S., de Lumley, L., Laplaud, P.-M. <strong>Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation gly88-to-glu in the human LPL gene and review of reported mutations: 75% are clustered in exons 5 and 6.</strong> Ann. Genet. 44: 25-32, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11334614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11334614</a>] [<a href="https://doi.org/10.1016/s0003-3995(01)01037-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11334614">Gilbert et al. (2001)</a> proposed a method of screening for mutations in this gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11334614" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#95" class="mim-tip-reference" title="Yang, W., Huang, J., Ge, D., Yao, C., Duan, X., Shen, Y., Qiang, B., Gu, D. <strong>Lipoprotein lipase gene is in linkage with blood pressure phenotypes in Chinese pedigrees.</strong> Hum. Genet. 115: 8-12, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15127290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15127290</a>] [<a href="https://doi.org/10.1007/s00439-004-1108-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15127290">Yang et al. (2004)</a> tested the relationship between polymorphisms in the LPL gene region and essential hypertension (<a href="/entry/145500">145500</a>) in 148 Chinese hypertensive families, using variance component and sib-pair linkage models. Linkage evidence with systolic blood pressure and diastolic blood pressure was observed with 7 flanking microsatellite markers of the LPL gene, with a maximum 2-point LOD score of 2.68 and a maximum multipoint LOD score (MLS) of 2.37 for systolic blood pressure and a maximum MLS of 1.54 for diastolic blood pressure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15127290" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#63" class="mim-tip-reference" title="Lopez-Miranda, J., Cruz, G., Gomez, P., Marin, C., Paz, E., Perez-Martinez, P., Fuentes, F. J., Ordovas, J. M., Perez-Jimenez, F. <strong>The influence of lipoprotein lipase gene variation on postprandial lipoprotein metabolism.</strong> J. Clin. Endocr. Metab. 89: 4721-4728, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15356086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15356086</a>] [<a href="https://doi.org/10.1210/jc.2003-031642" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15356086">Lopez-Miranda et al. (2004)</a> evaluated whether the association of LPL HindIII (H1/H2) and S447X (<a href="#0014">609708.0014</a>) polymorphisms may explain the variability observed during postprandial lipemia. Fifty-one healthy male volunteers (26 with the H2S447 genotype, 15 with the H1X447 genotype, and 10 with the H1S447 genotype) were subjected to a vitamin A-fat load test of 1 gram of fat per kg of body weight and 60,000 IU vitamin A. Carriers of the H1 allele presented a lower postprandial lipemic response than subjects with the homozygous H2S447 genotype. There was a delayed postprandial clearance of triacylglycerol-rich lipoproteins of intestinal origin in subjects with the H2S447 genotype compared with H1X447 subjects. <a href="#63" class="mim-tip-reference" title="Lopez-Miranda, J., Cruz, G., Gomez, P., Marin, C., Paz, E., Perez-Martinez, P., Fuentes, F. J., Ordovas, J. M., Perez-Jimenez, F. <strong>The influence of lipoprotein lipase gene variation on postprandial lipoprotein metabolism.</strong> J. Clin. Endocr. Metab. 89: 4721-4728, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15356086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15356086</a>] [<a href="https://doi.org/10.1210/jc.2003-031642" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15356086">Lopez-Miranda et al. (2004)</a> concluded that the modifications observed in postprandial lipoprotein metabolism in young normolipemic males with LPL polymorphism could be involved in the lower risk of coronary artery disease associated with the H1X447 genotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15356086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#34" class="mim-tip-reference" title="Goodarzi, M. O., Wong, H., Quinones, M. J., Taylor, K. D., Guo, X., Castellani, L. W., Antoine, H. J., Yang, H., Hsueh, W. A., Rotter, J. I. <strong>The 3-prime untranslated region of the lipoprotein lipase gene: haplotype structure and association with post-heparin plasma lipase activity.</strong> J. Clin. Endocr. Metab. 90: 4816-4823, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15928243/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15928243</a>] [<a href="https://doi.org/10.1210/jc.2005-0389" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15928243">Goodarzi et al. (2005)</a> sequenced exon 10 of the LPL gene and identified 15 variants. Thirteen of these variants were genotyped in large-scale along with the 6 SNPs spanning intron 7 to intron 9. LPL haplotypes and their relative frequencies in Mexican-Americans were determined. The fourth most common haplotype based on 19 SNPs (haplotype 19-4) was associated with increased LPL activity as well as multiple phenotypes related to the metabolic syndrome. The authors concluded that these results supported the possibility that variation in the 3-prime untranslated region of LPL affects LPL expression and activity, consequently influencing risk of atherosclerosis and insulin resistance, and provides important tools for further dissection of LPL regulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15928243" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#33" class="mim-tip-reference" title="Goodarzi, M. O., Taylor, K. D., Guo, X., Hokanson, J. E., Haffner, S. M., Cui, J., Chen, Y.-D. I., Wagenknecht, L. E., Bergman, R. N., Rotter, J. I. <strong>Haplotypes in the lipoprotein lipase gene influence fasting insulin and discovery of a new risk haplotype.</strong> J. Clin. Endocr. Metab. 92: 293-296, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17032721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17032721</a>] [<a href="https://doi.org/10.1210/jc.2006-1195" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17032721">Goodarzi et al. (2007)</a> replicated LPL haplotype association with insulin sensitivity/resistance. The haplotype structure was identical with that observed in prior studies. Among 978 phenotyped subjects, haplotype 1 was associated with decreased fasting insulin (p = 0.01), and haplotype 4 was associated with increased fasting insulin (p = 0.02) and increased visceral fat mass (p = 0.002). They concluded that this study independently replicates their prior results of LPL haplotypes 1 and 4 as associated with measures of insulin sensitivity and resistance, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17032721" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#90" class="mim-tip-reference" title="Wittrup, H. H., Andersen, R. V., Tybjaerg-Hansen, A., Jensen, G. B., Nordestgaard, B. G. <strong>Combined analysis of six lipoprotein lipase genetic variants on triglycerides, high-density lipoprotein, and ischemic heart disease: cross-sectional, prospective, and case-control studies from the Copenhagen City Heart Study.</strong> J. Clin. Endocr. Metab. 91: 1438-1445, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16418216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16418216</a>] [<a href="https://doi.org/10.1210/jc.2005-1725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16418216">Wittrup et al. (2006)</a> studied the effects of 6 common genetic variants in LPL on triglycerides, HDL cholesterol, and risk of ischemic heart disease (IHD). The study used 3 different designs, cross-sectional, prospective, and case-control, and involved members of the Danish general population participating in the Copenhagen City Heart Study. Genetic variation in LDL was associated with differences in plasma triglycerides greater than 1 mmol/liter and differences in HDL cholesterol greater than 0.5 mmol/liter. When analyzed prospectively, heterozygotes and homozygotes who carried both asp9-to-asn (<a href="#0035">609708.0035</a>) and -93G (<a href="#0038">609708.0038</a>) had a 1.6-fold risk of IHD compared with noncarriers. The combination of asn9 and -93G heterozygosity or homozygosity with apolipoprotein E (<a href="/entry/107741">107741</a>) epsilon-32 or epsilon-43 genotypes conferred 2.5-fold IHD risk. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16418216" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Frikke-Schmidt, R., Sing, C. F., Nordestgaard, B. G., Steffensen, R., Tybjaerg-Hansen, A. <strong>Subsets of SNPs define rare genotype classes that predict ischemic heart disease.</strong> Hum. Genet. 120: 865-877, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17006673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17006673</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17006673[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s00439-006-0233-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17006673">Frikke-Schmidt et al. (2007)</a> presented evidence that combinations of SNPs in APOE (<a href="/entry/107741">107741</a>) and LPL identify subgroups of individuals at substantially increased risk of ischemic heart disease beyond that associated with smoking, diabetes, and hypertension. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17006673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 11</em></strong></p><p>
|
|
In an evaluation of the hypothesis that multiple HDL cholesterol levels reflect the cumulative contributions of multiple common DNA sequence variants, each of which has a small effect, <a href="#82" class="mim-tip-reference" title="Spirin, V., Schmidt, S., Pertsemlidis, A., Cooper, R. S., Cohen, J. C., Sunyaev, S. R. <strong>Common single-nucleotide polymorphisms act in concert to affect plasma levels of high-density lipoprotein cholesterol.</strong> Am. J. Hum. Genet. 81: 1298-1303, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17952847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17952847</a>] [<a href="https://doi.org/10.1086/522497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17952847">Spirin et al. (2007)</a> identified a single-nucleotide polymorphism (SNP) of the LPL gene (<a href="/entry/118470#0042">118470.0042</a>) that acts in concert with other SNPs in the PLTP (<a href="/entry/172425#0001">172425.0001</a>) and CETP (<a href="/entry/118470#0005">118470.0005</a>) genes to affect plasma levels of HDL cholesterol (see HDLCQ11, <a href="/entry/238600">238600</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17952847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#49" class="mim-tip-reference" title="Kathiresan, S., Melander, O., Anevski, D., Guiducci, C., Burtt, N. P., Roos, C., Hirschhorn, J. N., Berglund, G., Hedblad, B., Groop, L., Altshuler, D. M., Newton-Cheh, C., Orho-Melander, M. <strong>Polymorphisms associated with cholesterol and risk of cardiovascular events.</strong> New Eng. J. Med. 358: 1240-1249, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18354102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18354102</a>] [<a href="https://doi.org/10.1056/NEJMoa0706728" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18354102">Kathiresan et al. (2008)</a> studied SNPs in 9 genes in 5,414 subjects from the cardiovascular cohort of the Malmo Diet and Cancer Study. All 9 SNPs, including <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs328;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs328</a> of LPL, had previously been associated with elevated LDL or lower HDL. <a href="#49" class="mim-tip-reference" title="Kathiresan, S., Melander, O., Anevski, D., Guiducci, C., Burtt, N. P., Roos, C., Hirschhorn, J. N., Berglund, G., Hedblad, B., Groop, L., Altshuler, D. M., Newton-Cheh, C., Orho-Melander, M. <strong>Polymorphisms associated with cholesterol and risk of cardiovascular events.</strong> New Eng. J. Med. 358: 1240-1249, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18354102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18354102</a>] [<a href="https://doi.org/10.1056/NEJMoa0706728" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18354102">Kathiresan et al. (2008)</a> replicated the associations with each SNP and created a genotype score on the basis of the number of unfavorable alleles. With increasing genotype scores, the level of LDL cholesterol increased, whereas the level of HDL cholesterol decreased. At 10-year follow-up, the genotype score was found to be an independent risk factor for incident cardiovascular disease (myocardial infarction, ischemic stroke, or death from coronary heart disease); the score did not improve risk discrimination but modestly improved clinical risk reclassification for individual subjects beyond standard clinical factors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18354102" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Aulchenko, Y. S., Ripatti, S., Lindqvist, I., Boomsma, D., Heid, I. M., Pramstaller, P. P., Penninx, B. W. J. H., Janssens, A. C. J. W., Wilson, W. F., Spector, T., Martin, N. G., Pedersen, N. L. <strong>{and 45 others}: Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.</strong> Nature Genet. 41: 47-55, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19060911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19060911</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19060911[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19060911">Aulchenko et al. (2009)</a> reported the first genomewide association (GWA) study of loci affecting total cholesterol, LDL cholesterol, HDL cholesterol, and triglycerides sampled randomly from 16 population-based cohorts and genotyped using mainly the Illumina HumanHap300-Duo platform. This study included a total of 17,797 to 22,562 individuals aged 18 to 104 years from geographic regions spanning from the Nordic countries to southern Europe. <a href="#2" class="mim-tip-reference" title="Aulchenko, Y. S., Ripatti, S., Lindqvist, I., Boomsma, D., Heid, I. M., Pramstaller, P. P., Penninx, B. W. J. H., Janssens, A. C. J. W., Wilson, W. F., Spector, T., Martin, N. G., Pedersen, N. L. <strong>{and 45 others}: Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.</strong> Nature Genet. 41: 47-55, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19060911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19060911</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19060911[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19060911">Aulchenko et al. (2009)</a> established 22 loci associated with serum lipid levels at a genomewide significance level (P less than 5 x 10(-8)), including 16 loci that were identified by previous GWA studies. This included 2 SNPs near the LPL gene, <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2083637;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2083637</a> (p = 5.5 x 10(-18) for HDL cholesterol) and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs10096633;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs10096633</a> (p = 6.1 x 10(-16) for HDL cholesterol). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19060911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#52" class="mim-tip-reference" title="Kim, Y. J., Go, M. J., Hu, C., Hong, C. B., Kim, Y. K., Lee, J. Y., Hwang, J.-Y., Oh, J. H., Kim, D.-J., Kim, N. H., Kim, S., Hong, E. J., and 22 others. <strong>Large-scale genome-wide association studies in east Asians identify new genetic loci influencing metabolic traits.</strong> Nature Genet. 43: 990-995, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21909109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21909109</a>] [<a href="https://doi.org/10.1038/ng.939" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21909109">Kim et al. (2011)</a> conducted a metaanalysis combining Korean genomewide association results from the KARE project (n = 8,842) and the HEXA shared control study (n = 3,703), and verified the associations of the loci selected from the discovery metaanalysis in the replication stage (30,395 individuals from the BioBank Japan genomewide association study and individuals comprising the Health2 and Shanghai Jiao Tong University Diabetes cohorts). <a href="#52" class="mim-tip-reference" title="Kim, Y. J., Go, M. J., Hu, C., Hong, C. B., Kim, Y. K., Lee, J. Y., Hwang, J.-Y., Oh, J. H., Kim, D.-J., Kim, N. H., Kim, S., Hong, E. J., and 22 others. <strong>Large-scale genome-wide association studies in east Asians identify new genetic loci influencing metabolic traits.</strong> Nature Genet. 43: 990-995, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21909109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21909109</a>] [<a href="https://doi.org/10.1038/ng.939" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21909109">Kim et al. (2011)</a> identified a SNP on chromosome 8p21.3, <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs10503669;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs10503669</a> (chr8:19,891,970, NCBI36), as significantly associated with triglyceride levels (p = 6.84 x 10(-39)) and HDL cholesterol (p = 8.04 x 10(-43)). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21909109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#79" class="mim-tip-reference" title="Richardson, K., Nettleton, J. A., Rotllan, N., Tanaka, T., Smith, C. E., Lai, C.-Q., Parnell, L. D., Lee, Y.-C., Lahti, J., Lemaitre, R. N., Manichaikul, A., Keller, M., and 34 others. <strong>Gain-of-function lipoprotein lipase variant {dbSNP rs13702} modulates lipid traits through disruption of a microRNA-410 seed site.</strong> Am. J. Hum. Genet. 92: 5-14, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23246289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23246289</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23246289[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23246289">Richardson et al. (2013)</a> investigated the association of the lipoprotein lipase variant <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs13702;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs13702</a> (see <a href="#0043">609708.0043</a>) with plasma lipids and explored its potential for functionality. The <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs13702;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs13702</a> minor allele C had been predicted to disrupt a microRNA recognition element seed site (MRESS) for the human microRNA-410 (miR410; <a href="/entry/615036">615036</a>). Furthermore, <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs13702;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs13702</a> is in linkage disequilibrium (LD) with several SNPs identified by genomewide association studies (GWAS). <a href="#79" class="mim-tip-reference" title="Richardson, K., Nettleton, J. A., Rotllan, N., Tanaka, T., Smith, C. E., Lai, C.-Q., Parnell, L. D., Lee, Y.-C., Lahti, J., Lemaitre, R. N., Manichaikul, A., Keller, M., and 34 others. <strong>Gain-of-function lipoprotein lipase variant {dbSNP rs13702} modulates lipid traits through disruption of a microRNA-410 seed site.</strong> Am. J. Hum. Genet. 92: 5-14, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23246289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23246289</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23246289[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23246289">Richardson et al. (2013)</a> performed a metaanalysis across 10 cohorts of participants that showed a statistically significant association of <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs13702;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs13702</a> with triacylglycerols (TAG, or triglycerides) (p = 3.18 x 10(-42)) and high-density lipoprotein cholesterol (HDLC) (p = 1.316 x 10(-32)), with each copy of a minor allele associated with 0.060 mmol/l lower triglycerides and 0.041 mmol/l higher HDL. <a href="#79" class="mim-tip-reference" title="Richardson, K., Nettleton, J. A., Rotllan, N., Tanaka, T., Smith, C. E., Lai, C.-Q., Parnell, L. D., Lee, Y.-C., Lahti, J., Lemaitre, R. N., Manichaikul, A., Keller, M., and 34 others. <strong>Gain-of-function lipoprotein lipase variant {dbSNP rs13702} modulates lipid traits through disruption of a microRNA-410 seed site.</strong> Am. J. Hum. Genet. 92: 5-14, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23246289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23246289</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23246289[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23246289">Richardson et al. (2013)</a> showed that an LPL 3-prime untranslated region (UTR) luciferase reporter carrying the <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs13702;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs13702</a> major T allele was reduced by 40% in response to a miR410 mimic. <a href="#79" class="mim-tip-reference" title="Richardson, K., Nettleton, J. A., Rotllan, N., Tanaka, T., Smith, C. E., Lai, C.-Q., Parnell, L. D., Lee, Y.-C., Lahti, J., Lemaitre, R. N., Manichaikul, A., Keller, M., and 34 others. <strong>Gain-of-function lipoprotein lipase variant {dbSNP rs13702} modulates lipid traits through disruption of a microRNA-410 seed site.</strong> Am. J. Hum. Genet. 92: 5-14, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23246289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23246289</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23246289[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23246289">Richardson et al. (2013)</a> also evaluated the interaction between intake of dietary fatty acids and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs13702;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs13702</a>. Metaanalysis demonstrated a significant interaction between <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs13702;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs13702</a> and dietary polyunsaturated fatty acid (PUFA) with respect to triglyceride concentrations (p = 0.00153), with the magnitude of the inverse association between dietary PUFA intake and triglyceride concentration showing a -0.007 mmol/l greater reduction. <a href="#79" class="mim-tip-reference" title="Richardson, K., Nettleton, J. A., Rotllan, N., Tanaka, T., Smith, C. E., Lai, C.-Q., Parnell, L. D., Lee, Y.-C., Lahti, J., Lemaitre, R. N., Manichaikul, A., Keller, M., and 34 others. <strong>Gain-of-function lipoprotein lipase variant {dbSNP rs13702} modulates lipid traits through disruption of a microRNA-410 seed site.</strong> Am. J. Hum. Genet. 92: 5-14, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23246289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23246289</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23246289[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23246289">Richardson et al. (2013)</a> concluded that <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs13702;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs13702</a> induces the allele-specific regulation of LPL by miR410 in humans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23246289" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="populationGenetics" class="mim-anchor"></a>
|
|
<h4 href="#mimPopulationGeneticsFold" id="mimPopulationGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimPopulationGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Population Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimPopulationGeneticsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>Pursuant to the report by <a href="#73" class="mim-tip-reference" title="Nickerson, D. A., Taylor, S. L., Weiss, K. M., Clark, A. G., Hutchinson, R. G., Stengard, J., Salomaa, V., Vartiainen, E., Boerwinkle, E., Sing, C. F. <strong>DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene.</strong> Nature Genet. 19: 233-240, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662394</a>] [<a href="https://doi.org/10.1038/907" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662394">Nickerson et al. (1998)</a>, the same group (<a href="#13" class="mim-tip-reference" title="Clark, A. G., Weiss, K. M., Nickerson, D. A., Taylor, S. L., Buchanan, A., Stengard, J., Salomaa, V., Vartiainen, E., Perola, M., Boerwinkle, E., Sing, C. F. <strong>Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase.</strong> Am. J. Hum. Genet. 63: 595-612, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683608</a>] [<a href="https://doi.org/10.1086/301977" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9683608">Clark et al., 1998</a>) analyzed the haplotype structure and population genetic inferences that could be derived from the nucleotide sequence variation found in LPL. They concluded that variation in the defined region of LPL may depart from the variation expected under a simple, neutral model, owing to complex historical patterns of population founding, drift, selection, and recombination. The findings suggested to them that the design and interpretation of disease association studies may not be as straightforward as often is assumed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9662394+9683608" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="animalModel" class="mim-anchor"></a>
|
|
<h4 href="#mimAnimalModelFold" id="mimAnimalModelToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimAnimalModelToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimAnimalModelFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>To study the effects of increased free fatty acid (FFA) uptake in muscle tissue, <a href="#59" class="mim-tip-reference" title="Levak-Frank, S., Radner, H., Walsh, A., Stollberger, R., Knipping, G., Hoefler, G., Sattler, W., Weinstock, P. H., Breslow, J. L., Zechner, R. <strong>Muscle-specific overexpression of lipoprotein lipase causes a severe myopathy characterized by proliferation of mitochondria and peroxisomes in transgenic mice.</strong> J. Clin. Invest. 96: 976-986, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7635990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7635990</a>] [<a href="https://doi.org/10.1172/JCI118145" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7635990">Levak-Frank et al. (1995)</a> generated transgenic mice carrying a human LPL minigene driven by the promoter of the muscle creatine kinase gene (<a href="/entry/123310">123310</a>). In these mice, human LPL was expressed in skeletal muscle and cardiac muscle, but not in other tissues. In 3 independent transgenic mouse lines, the authors detected decreased plasma triglyceride levels, elevated FFA uptake by muscle tissue, weight loss, and premature death in proportion to the level of LPL overexpression. The animals developed severe myopathy characterized by muscle fiber degeneration, fiber atrophy, glycogen storage, and extensive proliferation of mitochondria and peroxisomes. The extensive proliferation suggested to <a href="#59" class="mim-tip-reference" title="Levak-Frank, S., Radner, H., Walsh, A., Stollberger, R., Knipping, G., Hoefler, G., Sattler, W., Weinstock, P. H., Breslow, J. L., Zechner, R. <strong>Muscle-specific overexpression of lipoprotein lipase causes a severe myopathy characterized by proliferation of mitochondria and peroxisomes in transgenic mice.</strong> J. Clin. Invest. 96: 976-986, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7635990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7635990</a>] [<a href="https://doi.org/10.1172/JCI118145" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7635990">Levak-Frank et al. (1995)</a> that FFA plays an important role in the biogenesis of these organelles. The experiments indicated that LPL is rate-limiting for the supply of muscle tissue with triglyceride-derived FFA. The authors concluded that improper regulation of muscle LPL can lead to major pathologic changes and may be important in the pathogenesis of some human myopathies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7635990" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In further transgenic studies, <a href="#85" class="mim-tip-reference" title="Weinstock, P. H., Bisgaier, C. L., Aalto-Setala, K., Radner, H., Ramakrishnan, R., Levak-Frank, S., Essenburg, A. D., Zechner, R., Breslow, J. L. <strong>Severe hypertriglyceridemia, reduced high density lipoprotein, and neonatal death in lipoprotein lipase knockout mice: mild hypertriglyceridemia with impaired very low density lipoprotein clearance in heterozygotes.</strong> J. Clin. Invest. 96: 2555-2568, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8675619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8675619</a>] [<a href="https://doi.org/10.1172/JCI118319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8675619">Weinstock et al. (1995)</a> demonstrated that homozygous knockout mice have, at birth, 3-fold higher triglycerides and 7-fold higher VLDL cholesterol levels than controls. When permitted to suckle, LPL-deficient mice become pale, than cyanotic, and finally die at approximately 18 hours of age. Before death, triglyceride levels are severely elevated. Capillaries and tissues of homozygous knockout mice are engorged with chylomicrons. This is especially significant in the lung where marginated chylomicrons prevent red cell contact with the endothelium, a phenomenon that is presumably the cause of cyanosis and death in these mice. Homozygous knockout mice also have diminished adipose tissue stores, as well as decreased intracellular fat droplets. By crossbreeding with transgenic mice expressing human LPL driven by a muscle-specific promoter, mouse lines were generated that expressed LPL exclusively in muscle tissue. This tissue-specific LPL expression rescued the LPL knockout mice and normalized their lipoprotein pattern. Heterozygous LPL knockout mice survived to adulthood and had mild hypertriglyceridemia. In vivo turnover studies demonstrated that heterozygous knockout mice had impaired VLDL clearance (fractional catabolic rate) but no increase in transport rate. These observations provided to the authors an explanation for the tendency of heterozygous relatives of type I hyperlipoproteinemic probands to be hypertriglyceridemic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8675619" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#32" class="mim-tip-reference" title="Ginzinger, D. G., Lewis, M. E. S., Ma, Y., Jones, B. R., Liu, G., Jones, S. D., Hayden, M. R. <strong>A mutation in the lipoprotein lipase gene is the molecular basis of chylomicronemia in a colony of domestic cats.</strong> J. Clin. Invest. 97: 1257-1266, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8636438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8636438</a>] [<a href="https://doi.org/10.1172/JCI118541" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8636438">Ginzinger et al. (1996)</a> studied a domestic cat colony with chylomicronemia and other phenotypic features shared with human LPL deficiency. They showed that the affected cats had a nucleotide change resulting in a substitution of arginine for glycine at residue 412 in exon 8 of the LPL gene. In vitro mutagenesis and expression studies, in addition to segregation analysis, showed that this mutation is the cause of LPL deficiency in this cat colony. Reduced body mass and growth rates and increased stillbirth rates were observed in cats homozygous for the mutation. The authors noted that the cat model should be useful for in vivo investigation of the relationship between triglyceride-rich lipoproteins and atherogenic risk and for the assessment of new approaches for treatment of LPL deficiency, including gene therapy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8636438" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#94" class="mim-tip-reference" title="Yagyu, H., Chen, G., Yokoyama, M., Hirata, K., Augustus, A., Kako, Y., Seo, T., Hu, Y., Lutz, E. P., Merkel, M., Bensadoun, A., Homma, S., Goldberg, I. J. <strong>Lipoprotein lipase (LpL) on the surface of cardiomyocytes increases lipid uptake and produces a cardiomyopathy.</strong> J. Clin. Invest. 111: 419-426, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12569168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12569168</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12569168[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI16751" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12569168">Yagyu et al. (2003)</a> generated transgenic mice in which human LPL was expressed and anchored to the cardiomyocyte surface. More lipid accumulated in hearts expressing the transgene, and myocytes were enlarged and exhibited abnormal architecture. Hearts of transgenic mice were dilated and left ventricular systolic function was impaired. <a href="#94" class="mim-tip-reference" title="Yagyu, H., Chen, G., Yokoyama, M., Hirata, K., Augustus, A., Kako, Y., Seo, T., Hu, Y., Lutz, E. P., Merkel, M., Bensadoun, A., Homma, S., Goldberg, I. J. <strong>Lipoprotein lipase (LpL) on the surface of cardiomyocytes increases lipid uptake and produces a cardiomyopathy.</strong> J. Clin. Invest. 111: 419-426, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12569168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12569168</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12569168[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI16751" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12569168">Yagyu et al. (2003)</a> concluded that LPL expressed on the surface of cardiomyocytes can increase lipid uptake and produce cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12569168" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#97" class="mim-tip-reference" title="Zhao, T., Guo, J., Li, H., Huang, W., Xian, X., Ross, C. J. D., Hayden, M. R., Wen, Z., Liu, G. <strong>Hemorheological abnormalities in lipoprotein lipase deficient mice with severe hypertriglyceridemia.</strong> Biochem. Biophys. Res. Commun. 341: 1066-1071, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16460682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16460682</a>] [<a href="https://doi.org/10.1016/j.bbrc.2006.01.067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16460682">Zhao et al. (2006)</a> generated Lpl-deficient mice that were rescued from neonatal death by intramuscular injection of an adenoviral vector coding a human LPL mutant. The Lpl-deficient mice developed severe hypertriglyceridemia, causing a significant increase in plasma viscosity. Changes in erythrocytes were observed, including decreased deformability, electrophoresis rate, and membrane fluidity, and increased osmotic fragility. Electron microscopy revealed deformed erythrocytes with protrusions and indistinct concavity; analysis of erythrocyte membrane lipids showed decreased cholesterol and phospholipid content but an unaltered ratio of the 2 substances. <a href="#97" class="mim-tip-reference" title="Zhao, T., Guo, J., Li, H., Huang, W., Xian, X., Ross, C. J. D., Hayden, M. R., Wen, Z., Liu, G. <strong>Hemorheological abnormalities in lipoprotein lipase deficient mice with severe hypertriglyceridemia.</strong> Biochem. Biophys. Res. Commun. 341: 1066-1071, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16460682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16460682</a>] [<a href="https://doi.org/10.1016/j.bbrc.2006.01.067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16460682">Zhao et al. (2006)</a> concluded that severe hypertriglyceridemia can lead to significant impairment of blood flow, which may play a role in the pathogenesis of hyperlipidemic pancreatitis and atherosclerosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16460682" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Chen, Y., Zhu, J., Lum, P. Y., Yang, X., Pinto, S., MacNeil, D. J., Zhang, C., Lamb, J., Edwards, S., Sieberts, S. K., Leonardson, A., Castellini, L. W., and 10 others. <strong>Variations in DNA elucidate molecular networks that cause disease.</strong> Nature 452: 429-435, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18344982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18344982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18344982[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature06757" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18344982">Chen et al. (2008)</a> developed an alternative to the classic forward genetics approach for dissecting complex disease traits where, instead of identifying susceptibility genes directly affected by variations in DNA, they identified gene networks that are perturbed by susceptibility loci and that in turn lead to disease. Application of this method to liver and adipose gene expression data generated from a segregating mouse population resulted in the identification of a macrophage-enriched metabolic network (MEMN) supported as having a causal relationship with disease traits associated with metabolic syndrome (see <a href="/entry/605552">605552</a>). Three genes in this network, LPL, lactamase beta (LACTB; <a href="/entry/608440">608440</a>), and protein phosphatase 1-like (PPM1L; <a href="/entry/611931">611931</a>), were validated as previously unknown obesity genes, strengthening the association between this network and metabolic disease traits. Given the prediction that LPL and LACTB have a causal relationship with obesity, <a href="#11" class="mim-tip-reference" title="Chen, Y., Zhu, J., Lum, P. Y., Yang, X., Pinto, S., MacNeil, D. J., Zhang, C., Lamb, J., Edwards, S., Sieberts, S. K., Leonardson, A., Castellini, L. W., and 10 others. <strong>Variations in DNA elucidate molecular networks that cause disease.</strong> Nature 452: 429-435, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18344982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18344982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18344982[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature06757" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18344982">Chen et al. (2008)</a> recorded weight, fat mass, and lean mass for Lpl heterozygous null mice, Lactb transgenic mice, and wildtype littermate controls every 2 weeks starting at 11 weeks of age using quantitative nuclear magnetic resonance (NMR). As predicted, the growth curves for the Lpl heterozygous null and Lactb transgenic animals were significantly different from those of controls, with the fat mass/lean mass ratio difference generally increasing over time. At the final quantitative NMR measurement the fat mass/lean mass ratios in the Lpl heterozygous null mouse and the Lactb transgenic mice were increased by 22% and 20%, respectively, over the wildtype controls (p = 1.09 x 10(-5) and p = 4.48 x 10(-5)), respectively. LPL is the principle enzyme responsible for the hydrolysis of circulating triglycerides and is active in differentiated macrophages, consistent with its presence in the MEMN. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18344982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="allelicVariants" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<span href="#mimAllelicVariantsFold" id="mimAllelicVariantsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
|
|
</span>
|
|
<strong>43 Selected Examples</a>):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimAllelicVariantsFold" class="collapse in mimTextToggleFold">
|
|
<div>
|
|
<a href="/allelicVariants/609708" class="btn btn-default" role="button"> Table View </a>
|
|
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=609708[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
|
|
|
|
</div>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0001" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, ALA176THR
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs118204056 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204056;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001583" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001583" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001583</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>This mutation is sometimes called LPL-Bethesda.</p><p>In the proband from a Bethesda, Maryland, kindred with lipoprotein lipase deficiency (<a href="/entry/238600">238600</a>), <a href="#3" class="mim-tip-reference" title="Beg, O. U., Meng, M. S., Skarlatos, S. I., Previato, L., Brunzell, J. D., Brewer, H. B., Jr., Fojo, S. S. <strong>Lipoprotein lipase(Bethesda): a single amino acid substitution (ala176-to-thr) leads to abnormal heparin binding and loss of enzymic activity.</strong> Proc. Nat. Acad. Sci. 87: 3474-3478, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2110364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2110364</a>] [<a href="https://doi.org/10.1073/pnas.87.9.3474" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2110364">Beg et al. (1990)</a> demonstrated a G-to-A substitution at nucleotide 781 in the fifth exon of the LPL gene, which resulted in an ala-to-thr substitution at residue 176 (A176T). The patient showed what <a href="#3" class="mim-tip-reference" title="Beg, O. U., Meng, M. S., Skarlatos, S. I., Previato, L., Brunzell, J. D., Brewer, H. B., Jr., Fojo, S. S. <strong>Lipoprotein lipase(Bethesda): a single amino acid substitution (ala176-to-thr) leads to abnormal heparin binding and loss of enzymic activity.</strong> Proc. Nat. Acad. Sci. 87: 3474-3478, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2110364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2110364</a>] [<a href="https://doi.org/10.1073/pnas.87.9.3474" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2110364">Beg et al. (1990)</a> referred to as the chylomicronemia syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2110364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0002" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, GLY188GLU
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs118204057 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204057;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs118204057?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204057" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204057" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001586 OR RCV000521241 OR RCV000763181 OR RCV001248904 OR RCV002362549 OR RCV003415622" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001586, RCV000521241, RCV000763181, RCV001248904, RCV002362549, RCV003415622" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001586...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with lipoprotein lipase deficiency (<a href="/entry/238600">238600</a>) reported by <a href="#86" class="mim-tip-reference" title="Wilson, D. E., Edwards, C. Q., Chan, I.-F. <strong>Phenotypic heterogeneity in the extended pedigree of a proband with lipoprotein lipase deficiency.</strong> Metabolism 32: 1107-1114, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6645961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6645961</a>] [<a href="https://doi.org/10.1016/0026-0495(83)90056-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6645961">Wilson et al. (1983)</a>, <a href="#24" class="mim-tip-reference" title="Emi, M., Wilson, D. E., Iverius, P.-H., Wu, L., Hata, A., Hegele, R., Williams, R. R., Lalouel, J.-M. <strong>Missense mutation (gly-to-glu188) of human lipoprotein lipase imparting functional deficiency.</strong> J. Biol. Chem. 265: 5910-5916, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1969408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1969408</a>]" pmid="1969408">Emi et al. (1990)</a> demonstrated homozygosity a G-to-A transition at nucleotide 818 in exon 5 of the LPL gene, resulting in a gly188-to-glu (G188E) substitution in the mature protein. The substitution was demonstrated by a study of LPL cDNA prepared from the adipose tissue of the patient. Hybridization of genomic DNA with allele-specific oligonucleotides confirmed the patient's homozygosity and showed the carrier status for this mutation among relatives of the patient in whom the mutation was associated with hypertriglyceridemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1969408+6645961" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#71" class="mim-tip-reference" title="Monsalve, M. V., Henderson, H., Roederer, G., Julien, P., Deeb, S., Kastelein, J. J. P., Peritz, L., Devlin, R., Bruin, T., Murthy, M. R. V., Gagne, C., Davignon, J., Lupien, P. J., Brunzell, J. D., Hayden, M. R. <strong>A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries.</strong> J. Clin. Invest. 86: 728-734, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1975597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1975597</a>] [<a href="https://doi.org/10.1172/JCI114769" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1975597">Monsalve et al. (1990)</a> found the same mutation in 21 of 88 LPL alleles assessed. The 21 alleles came from 13 unrelated probands with LPL deficiency of French Canadian, English, Polish, German, Dutch, and East Indian ancestry. The mutation altered an AvaII restriction site and allowed a rapid screening test. The mutation occurred on the same haplotype in all the unrelated affected persons, suggesting a common origin. The amino acid substitution lies within the longest segment of homology for LPL in different species and results in a protein that is catalytically defective. Haplotype analysis suggested that at least 2 other mutations underlie the high frequency of LPL deficiency in French Canadians in Quebec (<a href="#30" class="mim-tip-reference" title="Gagne, C., Brun, L. D., Julien, P., Moorjani, S., Lupien, P. J. <strong>Primary lipoprotein lipase activity deficiency: clinical investigation of a French Canadian population.</strong> Canad. Med. Assoc. J. 140: 405-411, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2914262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2914262</a>]" pmid="2914262">Gagne et al., 1989</a>), where the carrier frequency is as high as 1 in 40 in some areas. The presence of the same haplotype background in the non-European cases from the vicinity of Bombay where no European admixture could be identified is surprising. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1975597+2914262" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Homozygosity for the G188E mutation results in class I LPL deficiency, i.e., there is absence of enzyme protein. By hybridization of DNA from multiple family members with allele-specific probes for the G188E mutation, <a href="#87" class="mim-tip-reference" title="Wilson, D. E., Emi, M., Iverius, P.-H., Hata, A., Wu, L. L., Hillas, E., Williams, R. R., Lalouel, J.-M. <strong>Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation.</strong> J. Clin. Invest. 86: 735-750, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2394828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2394828</a>] [<a href="https://doi.org/10.1172/JCI114770" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2394828">Wilson et al. (1990)</a> detected 29 relatives of a homozygous proband who were carriers of the mutant allele. They found that these individuals were prone to a form of familial hypertriglyceridemia that was age modulated, with conspicuous difference between carriers and noncarriers observed only after age 40. Obesity, hyperinsulinemia, and lipid-raising drug use were aggravating factors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2394828" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#75" class="mim-tip-reference" title="Paulweber, B., Wiebusch, H., Miesenboeck, G., Funke, H., Assmann, G., Hoelzl, B., Sippl, M. J., Friedl, W., Patsch, J. R., Sandhofer, F. <strong>Molecular basis of lipoprotein lipase deficiency in two Austrian families with type I hyperlipoproteinemia.</strong> Atherosclerosis 86: 239-250, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1872917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1872917</a>] [<a href="https://doi.org/10.1016/0021-9150(91)90220-w" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1872917">Paulweber et al. (1991)</a> found the same mutation in 2 Austrian families with type I hyperlipoproteinemia. <a href="#43" class="mim-tip-reference" title="Henderson, H. E., Hassan, F., Berger, G. M. B., Hayden, M. R. <strong>The lipoprotein lipase gly188-to-glu mutation in South Africans of Indian descent: evidence suggesting common origins and an increased frequency.</strong> J. Med. Genet. 29: 119-122, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1351946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1351946</a>] [<a href="https://doi.org/10.1136/jmg.29.2.119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1351946">Henderson et al. (1992)</a> assessed 16 South African LPL-deficient patients from 9 separate kindreds with the G188E mutation. Nine of the 16 were homozygous for the mutation and were from 4 families, all of Indian descent. Their ancestors originated from villages close to Bombay, India, which suggested a common ancestral mutation, particularly because the mutant allele in each family carried the identical RFLP haplotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1872917+1351946" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#31" class="mim-tip-reference" title="Gilbert, B., Rouis, M., Griglio, S., de Lumley, L., Laplaud, P.-M. <strong>Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation gly88-to-glu in the human LPL gene and review of reported mutations: 75% are clustered in exons 5 and 6.</strong> Ann. Genet. 44: 25-32, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11334614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11334614</a>] [<a href="https://doi.org/10.1016/s0003-3995(01)01037-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11334614">Gilbert et al. (2001)</a> identified homozygosity for the G188E mutation in a 2-year-old patient presenting classic features of familial LPL deficiency including undetectable LPL activity. They found reports of 221 mutations involved in this disorder. The G188E mutation was found in 23.5% of cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11334614" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0003" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, INS
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001584" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001584" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001584</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#58" class="mim-tip-reference" title="Langlois, S., Deeb, S., Brunzell, J., Kastelein, J. J., Hayden, M. R. <strong>A unique insertion accounts for a significant proportion of the mutations in the lipoprotein lipase (LPL) gene.(Abstract)</strong> Am. J. Hum. Genet. 43: A191, 1988."None>Langlois et al. (1988)</a> described an insertion in the LPL gene as a frequent cause of deficiency (<a href="/entry/238600">238600</a>). The insertion appeared to have arisen by some mechanism other than transposition of mobile L1 repetitive elements. Specifically, <a href="#57" class="mim-tip-reference" title="Langlois, S., Deeb, S., Brunzell, J. D., Kastelein, J. J., Hayden, M. R. <strong>A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency.</strong> Proc. Nat. Acad. Sci. 86: 948-952, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2536938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2536938</a>] [<a href="https://doi.org/10.1073/pnas.86.3.948" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2536938">Langlois et al. (1989)</a> used an LPL cDNA clone to study affected persons in 11 families. Four families of different ancestry were found to carry a similar insertion in their LPL gene. Detailed restriction mapping of the insertion showed that it was not likely to be a duplication of neighboring DNA, nor was it similar to the consensus sequence of human L1 repetitive elements. In a person of Malay extraction, the offspring of a consanguineous mating, a 5-bp insertion in exon 3, leading to an altered reading frame and premature stop codon in exon 4, was found. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2536938" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0004" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, 2-KB DUP
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001585" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001585" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001585</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Devlin et al. (<a href="#20" class="mim-tip-reference" title="Devlin, R., Henderson, H., Monsalve, V., Brunzell, J., Deeb, S., Hayden, M. R. <strong>The molecular biology of hypertriglyceridemia: characterization of mutations in patients with lipoprotein lipase deficiency.(Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A4, 1989."None>1989</a>, <a href="#19" class="mim-tip-reference" title="Devlin, R. H., Deeb, S., Brunzell, J., Hayden, M. R. <strong>Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency.</strong> Am. J. Hum. Genet. 46: 112-119, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2294743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2294743</a>]" pmid="2294743">1990</a>) found that approximately 25% of patients of European extraction with lipoprotein lipase deficiency (<a href="/entry/238600">238600</a>) have a 2-kb direct tandem duplication in the LPL gene between exon 6 and an Alu element within intron 6. Since this appears in persons of different European ancestries, the mutation probably predates the spread of the individual populations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2294743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0005" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, 6-KB DEL
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001587" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001587" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001587</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 1 family with lipoprotein lipase deficiency (<a href="/entry/238600">238600</a>), Devlin et al. (<a href="#20" class="mim-tip-reference" title="Devlin, R., Henderson, H., Monsalve, V., Brunzell, J., Deeb, S., Hayden, M. R. <strong>The molecular biology of hypertriglyceridemia: characterization of mutations in patients with lipoprotein lipase deficiency.(Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A4, 1989."None>1989</a>, <a href="#19" class="mim-tip-reference" title="Devlin, R. H., Deeb, S., Brunzell, J., Hayden, M. R. <strong>Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency.</strong> Am. J. Hum. Genet. 46: 112-119, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2294743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2294743</a>]" pmid="2294743">1990</a>) found a 6-kb deletion in the LPL gene, with breakpoints in introns 2 and 5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2294743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0006" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, GLN106TER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs118204058 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204058;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs118204058?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204058" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204058" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001588 OR RCV001385518" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001588, RCV001385518" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001588...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In the DNA from a male patient of German and Polish ancestry who had lipoprotein lipase deficiency (<a href="/entry/238600">238600</a>), <a href="#23" class="mim-tip-reference" title="Emi, M., Hata, A., Robertson, M., Iverius, P.-H., Hegele, R., Lalouel, J.-M. <strong>Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene.</strong> Am. J. Hum. Genet. 47: 107-111, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2349938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2349938</a>]" pmid="2349938">Emi et al. (1990)</a> detected a C-to-T transition in the LPL gene leading to the substitution of a stop signal for the codon that normally determines a glutamine at position 106 of the mature enzyme (Q106X). Hybridization with allele-specific oligonucleotides at this position established that the patient was homozygous for this mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2349938" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0007" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, SER244THR
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs118204059 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204059;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204059" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204059" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001589" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001589" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001589</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>By cloning and sequencing the translated exons and intron-exon boundaries of the lipoprotein lipase gene in a patient of French descent who had the chylomicronemia syndrome (<a href="/entry/238600">238600</a>), <a href="#37" class="mim-tip-reference" title="Hata, A., Emi, M., Luc, G., Basdevant, A., Gambert, P., Iverius, P.-H., Lalouel, J.-M. <strong>Compound heterozygote for lipoprotein lipase deficiency: ser-to-thr(244) and transition in 3-prime splice site of intron 2 (AG-to-AA) in the lipoprotein lipase gene.</strong> Am. J. Hum. Genet. 47: 721-726, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2121025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2121025</a>]" pmid="2121025">Hata et al. (1990)</a> found compound heterozygosity for 2 nucleotide substitutions: one was a missense mutation, the substitution of threonine for serine-244 (S244T), resulting from a TCC-to-ACC change, while the other was an AG-to-AA transition in the 3-prime splice site of intron 2 (<a href="#0008">609708.0008</a>). The functional significance of the S244T substitution was established by in vitro expression in cultured mammalian cells. According to studies of <a href="#16" class="mim-tip-reference" title="De Braekeleer, M., Dionne, C., Gagne, C., Julien, P., Brun, D., Ven Murthy, M. R., Lupien, P.-J. <strong>Founder effect in familial hyperchylomicronemia among French Canadians of Quebec.</strong> Hum. Hered. 41: 168-173, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1937490/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1937490</a>] [<a href="https://doi.org/10.1159/000153996" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1937490">De Braekeleer et al. (1991)</a>, the birthplaces of 58 French Canadian carriers of familial hyperchylomicronemia in eastern Quebec cluster in 3 regions. No founder common to all of them could be found. Three sets of founders were identified, 1 for each region, with little overlap between regions. Presumably more than one mutation was introduced by French immigrants in the 17th century. Perche, a region situated between Paris and Normandy, appeared to be the most likely center of diffusion of at least one of these mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1937490+2121025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0008" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, IVS2DS, G-A
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1563572716 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1563572716;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1563572716" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1563572716" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001590" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001590" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001590</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See <a href="#0007">609708.0007</a> for discussion of the 3-prime splice site mutation discovered by <a href="#37" class="mim-tip-reference" title="Hata, A., Emi, M., Luc, G., Basdevant, A., Gambert, P., Iverius, P.-H., Lalouel, J.-M. <strong>Compound heterozygote for lipoprotein lipase deficiency: ser-to-thr(244) and transition in 3-prime splice site of intron 2 (AG-to-AA) in the lipoprotein lipase gene.</strong> Am. J. Hum. Genet. 47: 721-726, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2121025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2121025</a>]" pmid="2121025">Hata et al. (1990)</a> in a compound heterozygote. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2121025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0009" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, PRO207LEU
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs118204060 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204060;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs118204060?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204060" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204060" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001591 OR RCV001253353 OR RCV001851555 OR RCV002362550 OR RCV003964785 OR RCV005049309" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001591, RCV001253353, RCV001851555, RCV002362550, RCV003964785, RCV005049309" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001591...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#64" class="mim-tip-reference" title="Ma, Y., Henderson, H. E., Ven Murthy, M. R., Roederer, G., Monsalve, M. V., Clarke, L. A., Normand, T., Julien, P., Gagne, C., Lambert, M., Davignon, J., Lupien, P. J., Brunzell, J., Hayden, M. R. <strong>A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians.</strong> New Eng. J. Med. 324: 1761-1766, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2038366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2038366</a>] [<a href="https://doi.org/10.1056/NEJM199106203242502" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2038366">Ma et al. (1991)</a> described a missense mutation at residue 207 of LPL that accounts for approximately 73% of mutant alleles in the French Canadian patients with LPL deficiency (<a href="/entry/238600">238600</a>). In vitro mutagenesis studies confirmed that this mutation causes catalytically defective LPL. Sequence analysis of exon 5 showed a C-to-T transition at nucleotide 875 which resulted in an amino acid substitution of leucine for proline-207 (P207L). The mutation was easily detected by dot-blot analysis, providing definitive DNA diagnosis and identification of heterozygotes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2038366" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The P207L mutation is the most frequent mutation in the French Canadian population, representing 72.1% of the mutant alleles in LPL-deficient patients (<a href="#74" class="mim-tip-reference" title="Normand, T., Bergeron, J., Fernandez-Margallo, T., Bharucha, A., Ven Murthy, M. R., Julien, P., Gagne, C., Dionne, C., De Braekeleer, M., Ma, R., Hayden, M. R., Lupien, P. J. <strong>Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Quebec.</strong> Hum. Genet. 89: 671-675, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1511985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1511985</a>] [<a href="https://doi.org/10.1007/BF00221960" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1511985">Normand et al., 1992</a>). The next most frequent mutation, G188E (<a href="#0002">609708.0002</a>), was found in 24.3% of mutant alleles. Genealogic reconstruction of French Canadian LPL-deficient patients pointed to 16 founders of P207L, all of whom migrated to Quebec in the early 17th century from the northwestern part of France, especially from the region of Perche. Most of the carriers of this mutation are at present found in the Charlevoix, Saguenay-Lac-Saint-Jean regions of eastern Quebec. Based on the number of homozygotes so far identified, <a href="#74" class="mim-tip-reference" title="Normand, T., Bergeron, J., Fernandez-Margallo, T., Bharucha, A., Ven Murthy, M. R., Julien, P., Gagne, C., Dionne, C., De Braekeleer, M., Ma, R., Hayden, M. R., Lupien, P. J. <strong>Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Quebec.</strong> Hum. Genet. 89: 671-675, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1511985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1511985</a>] [<a href="https://doi.org/10.1007/BF00221960" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1511985">Normand et al. (1992)</a> estimated that at least 31,000 persons in the province of Quebec carried the mutation. <a href="#93" class="mim-tip-reference" title="Wood, S., Schertzer, M., Hayden, M., Ma, Y. <strong>Support for founder effect for two lipoprotein lipase (LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene.</strong> Hum. Genet. 91: 312-316, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8099055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8099055</a>] [<a href="https://doi.org/10.1007/BF00217348" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8099055">Wood et al. (1993)</a> characterized 2 polymorphic GT microsatellites flanking the LPL gene and showed that the 2 very frequent French Canadian mutations were in complete linkage disequilibrium with specific LPL microsatellite haplotypes, indicating a founder effect within this population. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1511985+8099055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0010" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, ILE194THR
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs118204061 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204061;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs118204061?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204061" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204061" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001593 OR RCV001248903 OR RCV001388969 OR RCV003298025" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001593, RCV001248903, RCV001388969, RCV003298025" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001593...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 34-year-old white female with hyperchylomicronemia syndrome (<a href="/entry/238600">238600</a>), <a href="#21" class="mim-tip-reference" title="Dichek, H. L., Fojo, S. S., Beg, O. U., Skarlatos, S. I., Brunzell, J. D., Cutler, G. B., Jr., Brewer, H. B., Jr. <strong>Identification of 2 separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome.</strong> J. Biol. Chem. 266: 473-477, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1702428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1702428</a>]" pmid="1702428">Dichek et al. (1991)</a> found compound heterozygosity for 2 amino acid substitutions: a T-to-C transition at nucleotide 836 resulted in the substitution of threonine for isoleucine-194 (I194T), and a G-to-A transition at base 983 led to the substitution of histidine for arginine-243 (R243H; <a href="#0011">609708.0011</a>) and the loss of an HhaI restriction enzyme site. The woman had been screened for hypertriglyceridemia at birth, after an older sib had been found to have deficiency of LPL. Throughout childhood, she had had recurrent episodes of abdominal pain and pancreatitis, together with eruptive xanthomas, lipemia retinalis, and splenomegaly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1702428" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 unrelated patients, <a href="#45" class="mim-tip-reference" title="Henderson, H. E., Ma, Y., Hassan, M. F., Monsalve, M. V., Marais, A. D., Winkler, F., Gubernator, K., Peterson, J., Brunzell, J. D., Hayden, M. R. <strong>Amino acid substitution (ile194-to-thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands: support for a multicentric origin.</strong> J. Clin. Invest. 87: 2005-2011, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1674945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1674945</a>] [<a href="https://doi.org/10.1172/JCI115229" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1674945">Henderson et al. (1991)</a> found a T-to-C transition at codon 194 in exon 5 of the LPL gene, resulting in a substitution of threonine for isoleucine. The mutation was associated with 2 different DNA haplotypes, consistent with a multicentric origin of the mutation. One of these patients was later found to be a compound heterozygote (<a href="#0036">609708.0036</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1674945" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0011" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, ARG243HIS
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs118204062 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204062;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs118204062?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204062" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204062" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001594 OR RCV000497435 OR RCV001248901 OR RCV002415385" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001594, RCV000497435, RCV001248901, RCV002415385" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001594...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See <a href="#0010">609708.0010</a> and <a href="#21" class="mim-tip-reference" title="Dichek, H. L., Fojo, S. S., Beg, O. U., Skarlatos, S. I., Brunzell, J. D., Cutler, G. B., Jr., Brewer, H. B., Jr. <strong>Identification of 2 separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome.</strong> J. Biol. Chem. 266: 473-477, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1702428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1702428</a>]" pmid="1702428">Dichek et al. (1991)</a>. Also see <a href="#35" class="mim-tip-reference" title="Gotoda, T., Yamada, N., Kawamura, M., Kozaki, K., Mori, N., Ishibashi, S., Shimano, H., Takaku, F., Yazaki, Y., Furuichi, Y., Murase, T. <strong>Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.</strong> J. Clin. Invest. 88: 1856-1864, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1752947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1752947</a>] [<a href="https://doi.org/10.1172/JCI115507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1752947">Gotoda et al. (1991)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1702428+1752947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#65" class="mim-tip-reference" title="Ma, Y., Liu, M.-S., Chitayat, D., Bruin, T., Beisiegel, U., Benlian, P., Foubert, L., De Gennes, J. L., Funke, H., Forsythe, I., Blaichman, S., Papanikolaou, M., Erkelens, D. W., Kastelein, J., Brunzell, J. D., Hayden, M. R. <strong>Recurrent missense mutations at the first and second base of codon arg243 in human lipoprotein lipase in patients of different ancestries.</strong> Hum. Mutat. 3: 52-58, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7906986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7906986</a>] [<a href="https://doi.org/10.1002/humu.1380030109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7906986">Ma et al. (1994)</a> found this mutation in 2 unrelated cases, one Dutch and one Chinese. They also found a recurrent arg243-to-cys mutation (R243C; <a href="#0031">609708.0031</a>) occurring in the same CGC codon, indicating the high mutability of CpG dinucleotides within the LPL gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7906986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0012" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, GLY142GLU
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs118204063 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204063;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs118204063?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204063" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204063" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001596" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001596" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001596</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs with the chylomicronemia syndrome (<a href="/entry/238600">238600</a>), offspring of first-cousin parents, <a href="#1" class="mim-tip-reference" title="Ameis, D., Kobayashi, J., Davis, R. C., Ben-Zeev, O., Malloy, M. J., Kane, J. P., Lee, G., Wong, H., Havel, R. J., Schotz, M. C. <strong>Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.</strong> J. Clin. Invest. 87: 1165-1170, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2010533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2010533</a>] [<a href="https://doi.org/10.1172/JCI115114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2010533">Ameis et al. (1991)</a> demonstrated a G-to-A substitution at nucleotide 680 of the LPL gene resulting in replacement of glycine by glutamic acid at residue 142 of the mature LPL protein (G142E). The mutated LPL was not catalytically active nor was it efficiently secreted from the cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2010533" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Busca, R., Martinez, M., Vilella, E., Pognonec, P., Deeb, S., Auwerx, J., Reina, M., Vilaro, S. <strong>The mutation gly142-to-glu in human lipoprotein lipase produces a missorted protein that is diverted to lysosomes.</strong> J. Biol. Chem. 271: 2139-2146, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8567671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8567671</a>] [<a href="https://doi.org/10.1074/jbc.271.4.2139" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8567671">Busca et al. (1996)</a> mutated the human LPL cDNA by site-directed mutagenesis to produce the G142E substitution. By study of COS-1 cells transiently transfected with the mutant G142E lipoprotein lipase, they showed that the mutant enzyme was not efficiently secreted into the extracellular medium, but was missorted to lysosomes for intracellular degradation. This finding suggested to the authors that lysosomal missorting may be a mechanism of cell quality control of secreted LPL. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8567671" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0013" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, ASP156GLY
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs118204064 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204064;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001597" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001597" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001597</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 brothers of Turkish descent with type I hyperlipoproteinemia (<a href="/entry/238600">238600</a>), <a href="#25" class="mim-tip-reference" title="Faustinella, F., Chang, A., Van Biervliet, J. P., Rosseneu, M., Vinaimont, N., Smith, L. C., Chen, S.-H., Chan, L. <strong>Catalytic triad residue mutation (asp156-to-gly) causing familial lipoprotein lipase deficiency: co-inheritance with a nonsense mutation (ser447-to-ter) in a Turkish family.</strong> J. Biol. Chem. 266: 14418-14424, 1991. Note: Erratum: J. Biol. Chem. 267: 7194 only, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1907278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1907278</a>]" pmid="1907278">Faustinella et al. (1991)</a> found 2 mutations in the LPL gene: a missense mutation changing codon 156 from GAU to GGU predicting an asp156-to-gly substitution (D156G), and a nonsense mutation changing the codon for serine-447 from UCA to UGA (S447X; <a href="#0014">609708.0014</a>), predicting a truncated LPL protein that contains 446 instead of 448 amino acid residues. Both patients were homozygous for both mutations. The clinically unaffected parents and a sib were heterozygotes for both mutations. The functional significance of the mutations was studied by expressing mutant LPLs in vitro using a eukaryotic expression vector. A D156G mutation was found to be totally without enzyme activity, whereas mutations at the 447 and 448 positions had normal enzyme activity. Among 224 unrelated normal Caucasians, <a href="#25" class="mim-tip-reference" title="Faustinella, F., Chang, A., Van Biervliet, J. P., Rosseneu, M., Vinaimont, N., Smith, L. C., Chen, S.-H., Chan, L. <strong>Catalytic triad residue mutation (asp156-to-gly) causing familial lipoprotein lipase deficiency: co-inheritance with a nonsense mutation (ser447-to-ter) in a Turkish family.</strong> J. Biol. Chem. 266: 14418-14424, 1991. Note: Erratum: J. Biol. Chem. 267: 7194 only, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1907278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1907278</a>]" pmid="1907278">Faustinella et al. (1991)</a> found 36 who were heterozygous and 1 who was homozygous for the S447X mutation, indicating that it is a sequence polymorphism with no functional significance. Through comparison with pancreatic lipase, with which LPL shows high homology, <a href="#25" class="mim-tip-reference" title="Faustinella, F., Chang, A., Van Biervliet, J. P., Rosseneu, M., Vinaimont, N., Smith, L. C., Chen, S.-H., Chan, L. <strong>Catalytic triad residue mutation (asp156-to-gly) causing familial lipoprotein lipase deficiency: co-inheritance with a nonsense mutation (ser447-to-ter) in a Turkish family.</strong> J. Biol. Chem. 266: 14418-14424, 1991. Note: Erratum: J. Biol. Chem. 267: 7194 only, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1907278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1907278</a>]" pmid="1907278">Faustinella et al. (1991)</a> concluded that the catalytic triad of LPL corresponds to asp156/his241/ser132. The D156G mutant was the first naturally occurring mutant reported that involved a catalytic triad residue among the lipases and serine proteases. It gave strong support for the essential role of asp156 in enzyme catalysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1907278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0014" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong><div class="mim-changed mim-change">.0014 LPL POLYMORPHISM</div></strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, SER447TER (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs328;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs328</a>)
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs328 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs328;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs328?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs328" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs328" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000385586 OR RCV001511819 OR RCV001804709 OR RCV002390085 OR RCV002504735 OR RCV003974788" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000385586, RCV001511819, RCV001804709, RCV002390085, RCV002504735, RCV003974788" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000385586...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See <a href="#0013">609708.0013</a>. Although <a href="#25" class="mim-tip-reference" title="Faustinella, F., Chang, A., Van Biervliet, J. P., Rosseneu, M., Vinaimont, N., Smith, L. C., Chen, S.-H., Chan, L. <strong>Catalytic triad residue mutation (asp156-to-gly) causing familial lipoprotein lipase deficiency: co-inheritance with a nonsense mutation (ser447-to-ter) in a Turkish family.</strong> J. Biol. Chem. 266: 14418-14424, 1991. Note: Erratum: J. Biol. Chem. 267: 7194 only, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1907278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1907278</a>]" pmid="1907278">Faustinella et al. (1991)</a> considered this a polymorphism of no functional significance, <a href="#55" class="mim-tip-reference" title="Kobayashi, J., Nishida, T., Ameis, D., Stahnke, G., Schotz, M. C., Hashimoto, H., Fukamachi, I., Shirai, K., Saito, Y., Yoshida, S. <strong>A heterozygous mutation (the codon for ser477 to a stop codon) in lipoprotein lipase contributes to a defect in lipid interface recognition in a case with type I hyperlipidemia.</strong> Biochem. Biophys. Res. Commun. 182: 70-77, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1731801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1731801</a>] [<a href="https://doi.org/10.1016/s0006-291x(05)80113-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1731801">Kobayashi et al. (1992)</a>, who found it in heterozygous state in a patient with LPL deficiency (<a href="/entry/238600">238600</a>), thought it might contribute. Both parents had about half-normal LPL activity; hence, the heterozygous S447X mutation cannot be solely responsible for type I hyperlipidemia in that case. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1731801+1907278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0015" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, IVS2DS, G-A, +1
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1563569634 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1563569634;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1563569634" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1563569634" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001599 OR RCV001236175 OR RCV001537867 OR RCV002426478" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001599, RCV001236175, RCV001537867, RCV002426478" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001599...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In each of 5 unrelated Japanese patients with familial LPL deficiency (<a href="/entry/238600">238600</a>), <a href="#35" class="mim-tip-reference" title="Gotoda, T., Yamada, N., Kawamura, M., Kozaki, K., Mori, N., Ishibashi, S., Shimano, H., Takaku, F., Yazaki, Y., Furuichi, Y., Murase, T. <strong>Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.</strong> J. Clin. Invest. 88: 1856-1864, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1752947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1752947</a>] [<a href="https://doi.org/10.1172/JCI115507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1752947">Gotoda et al. (1991)</a> found homozygosity for a distinct point mutation dispersed throughout the LPL gene. Only one of these mutations had previously been described, the arg243-to-his mutation (R243H; <a href="#0011">609708.0011</a>). One of the other patients had a G-to-A transition at the first nucleotide of intron 2, which abolished normal splicing. See also <a href="#0008">609708.0008</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1752947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0016" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, TYR61TER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs118204065 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204065;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs118204065?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001600 OR RCV002453245" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001600, RCV002453245" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001600...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>One of 5 unrelated Japanese patients with familial LPL deficiency (<a href="/entry/238600">238600</a>) was shown by <a href="#35" class="mim-tip-reference" title="Gotoda, T., Yamada, N., Kawamura, M., Kozaki, K., Mori, N., Ishibashi, S., Shimano, H., Takaku, F., Yazaki, Y., Furuichi, Y., Murase, T. <strong>Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.</strong> J. Clin. Invest. 88: 1856-1864, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1752947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1752947</a>] [<a href="https://doi.org/10.1172/JCI115507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1752947">Gotoda et al. (1991)</a> to have a nonsense mutation in exon 3 (tyr61 to ter; Y61X). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1752947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 10-month-old boy with lipoprotein lipase deficiency, <a href="#36" class="mim-tip-reference" title="Gotoda, T., Yamada, N., Murase, T., Miyake, S., Murakami, R., Kawamura, M., Kozaki, K., Mori, N., Shimano, H., Shimada, M., Yazaki, Y. <strong>A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency.</strong> Biochim. Biophys. Acta 1138: 353-356, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1562620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1562620</a>] [<a href="https://doi.org/10.1016/0925-4439(92)90015-f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1562620">Gotoda et al. (1992)</a> found compound heterozygosity for the Y61X mutation and a frameshift mutation at nucleotide 916 resulting from deletion of a single guanine (G) base at that position (<a href="#0019">609708.0019</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1562620" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0017" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, TRP382TER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs118204066 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204066;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001601 OR RCV002504736" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001601, RCV002504736" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001601...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 1 of 5 unrelated Japanese patients with familial LPL deficiency (<a href="/entry/238600">238600</a>), <a href="#35" class="mim-tip-reference" title="Gotoda, T., Yamada, N., Kawamura, M., Kozaki, K., Mori, N., Ishibashi, S., Shimano, H., Takaku, F., Yazaki, Y., Furuichi, Y., Murase, T. <strong>Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.</strong> J. Clin. Invest. 88: 1856-1864, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1752947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1752947</a>] [<a href="https://doi.org/10.1172/JCI115507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1752947">Gotoda et al. (1991)</a> demonstrated homozygosity for a nonsense mutation in exon 8 (trp382 to ter; W382X). This mutation demonstrated the importance of the carboxy-terminal portion of the enzyme in the expression of LPL activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1752947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0018" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, ASP204GLU
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs118204067 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204067;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs118204067?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204067" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204067" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001592" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001592" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001592</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 1 of 5 unrelated Japanese patients with familial LPL deficiency (<a href="/entry/238600">238600</a>), <a href="#35" class="mim-tip-reference" title="Gotoda, T., Yamada, N., Kawamura, M., Kozaki, K., Mori, N., Ishibashi, S., Shimano, H., Takaku, F., Yazaki, Y., Furuichi, Y., Murase, T. <strong>Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.</strong> J. Clin. Invest. 88: 1856-1864, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1752947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1752947</a>] [<a href="https://doi.org/10.1172/JCI115507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1752947">Gotoda et al. (1991)</a> demonstrated homozygosity for a missense mutation, asp204 to glu (D204E), located in a strictly conserved amino acid. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1752947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0019" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
LPL-ARITA
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, 1-BP DEL, 916G
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1563575252 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1563575252;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1563575252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1563575252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001602 OR RCV000001603" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001602, RCV000001603" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001602...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 brothers with hyperchylomicronemia (<a href="/entry/238600">238600</a>), <a href="#84" class="mim-tip-reference" title="Takagi, A., Ikeda, Y., Tsutsumi, Z., Shoji, T., Yamamoto, A. <strong>Molecular studies on primary lipoprotein lipase (LPL) deficiency: one base deletion (G-916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript.</strong> J. Clin. Invest. 89: 581-591, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1737848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1737848</a>] [<a href="https://doi.org/10.1172/JCI115624" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1737848">Takagi et al. (1992)</a> found homozygosity for a mutation referred to as LPL-Arita: deletion of 1 base, G at nucleotide position 916 in exon 5 (the first position of ala221), which led to premature termination by a frameshift. No detectable LPL mRNA was identified. Heterozygous LPL-Arita-deficient subjects showed approximately half value of control LPL mass. The mutation resulted in the loss of an AluI restriction enzyme site. <a href="#7" class="mim-tip-reference" title="Bergeron, J., Normand, T., Bharucha, A., Ven Murthy, M. R., Julien, P., Gagne, C., Dionne, C., De Braekeleer, M., Brun, D., Hayden, M. R., Lupien, P. J. <strong>Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Quebec.</strong> Clin. Genet. 41: 206-210, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1576758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1576758</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03664.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1576758">Bergeron et al. (1992)</a> reported that, although the G188E (<a href="#0002">609708.0002</a>) mutation occurs in the largest absolute numbers among French Canadians as compared to other groups in the world, it accounts for only 24% of all the LPL mutant alleles in this population. The mutation was found to be more prevalent in western Quebec with the highest carrier rate in the Mauricie region. Genealogic reconstruction led to the recognition of 4 founders, all emigrants from France to Quebec in the 17th century. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1737848+1576758" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#36" class="mim-tip-reference" title="Gotoda, T., Yamada, N., Murase, T., Miyake, S., Murakami, R., Kawamura, M., Kozaki, K., Mori, N., Shimano, H., Shimada, M., Yazaki, Y. <strong>A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency.</strong> Biochim. Biophys. Acta 1138: 353-356, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1562620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1562620</a>] [<a href="https://doi.org/10.1016/0925-4439(92)90015-f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1562620">Gotoda et al. (1992)</a> found compound heterozygosity for a one-base deletion in the first nucleotide of codon 221 of the LPL gene and a Y61X mutation (<a href="#0016">609708.0016</a>). The deletion resulted in a shift of reading frame in the downstream region and the occurrence of a premature termination codon 3 residues downstream. Thus the resulting mutant LPL was a truncated protein with a net loss of 225 amino acid residues in the carboxy terminal region as well as alterations in its last 3 residues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1562620" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#50" class="mim-tip-reference" title="Kawashiri, M., Higashikata, T., Mizuno, M., Takata, M., Katsuda, S., Miwa, K., Nozue, T., Nohara, A., Inazu, A., Kobayashi, J., Koizumi, J., Mabuchi, H. <strong>Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL-Arita in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis.</strong> J. Clin. Endocr. Metab. 90: 6541-6544, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16174715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16174715</a>] [<a href="https://doi.org/10.1210/jc.2005-1098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16174715">Kawashiri et al. (2005)</a> reported a 22-year-old Japanese male with this mutation who had had no major pancreatic malformations, vascular complications, or severe glucose intolerance despite a 32-year clinical history of pancreatitis recurring more than 20 times. Based on the long-term observations of this patient, <a href="#50" class="mim-tip-reference" title="Kawashiri, M., Higashikata, T., Mizuno, M., Takata, M., Katsuda, S., Miwa, K., Nozue, T., Nohara, A., Inazu, A., Kobayashi, J., Koizumi, J., Mabuchi, H. <strong>Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL-Arita in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis.</strong> J. Clin. Endocr. Metab. 90: 6541-6544, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16174715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16174715</a>] [<a href="https://doi.org/10.1210/jc.2005-1098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16174715">Kawashiri et al. (2005)</a> proposed that LPL deficiency is not invariably associated with high mortality and that even with repeated episodes of acute pancreatitis, pancreatic function may be slow to decline. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16174715" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0020" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, ASP250ASN
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs118204068 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204068;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs118204068?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204068" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204068" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001604 OR RCV001059212 OR RCV002426479 OR RCV002476909" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001604, RCV001059212, RCV002426479, RCV002476909" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001604...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a French Canadian patient, <a href="#67" class="mim-tip-reference" title="Ma, Y., Wilson, B. I., Bijvoet, S., Henderson, H. E., Cramb, E., Roederer, G., Ven Murthy, M. R., Julien, P., Bakker, H. D., Kastelein, J. J. P., Brunzell, J. D., Hayden, M. R. <strong>A missense mutation (asp250-to-asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries.</strong> Genomics 13: 649-653, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1639392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1639392</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90136-g" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1639392">Ma et al. (1992)</a> found a G-to-A transition in exon 6 of the LPL gene, resulting in substitution of asparagine for aspartic acid at residue 250 (D250N), as the basis of familial chylomicronemia (<a href="/entry/238600">238600</a>). Using in vitro site-directed mutagenesis, they confirmed that the mutation caused a catalytically defective LPL protein. The D250N mutation was also found on the same haplotype in an LPL-deficient patient of Dutch ancestry, suggesting a common origin. The mutation altered a TaqI restriction site, thus allowing for rapid screening in patients with LPL deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1639392" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0021" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0021 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, TRP86ARG
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs118204069 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204069;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs118204069?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001605 OR RCV001197456 OR RCV001851556 OR RCV005049310" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001605, RCV001197456, RCV001851556, RCV005049310" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001605...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient of English ancestry with familial chylomicronemia caused by LPL deficiency (<a href="/entry/238600">238600</a>), <a href="#47" class="mim-tip-reference" title="Ishimura-Oka, K., Faustinella, F., Kihara, S., Smith, L. C., Oka, K., Chan, L. <strong>A missense mutation (trp86-to-arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia.</strong> Am. J. Hum. Genet. 50: 1275-1280, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1598907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1598907</a>]" pmid="1598907">Ishimura-Oka et al. (1992)</a> demonstrated compound heterozygosity for the gln106-to-ter mutation (Q106X; <a href="#0006">609708.0006</a>) and a new mutation: a T-to-C transition for codon 86 (TGG) at nucleotide 511, resulting in a trp86-to-arg substitution (W86R). The functional significance of the mutation was confirmed by in vitro expression and enzyme activity assays of the mutant LPL. The W86R mutation in exon 3 was the first natural missense mutation identified outside exons 4 through 6, which encompass the catalytic triad residues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1598907" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<a id="0022" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0022 REMOVED FROM DATABASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0023" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0023 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, TRP64TER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs118204070 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204070;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs118204070?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204070" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204070" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001606 OR RCV001385517 OR RCV001813730" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001606, RCV001385517, RCV001813730" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001606...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with lipoprotein lipase deficiency (<a href="/entry/238600">238600</a>), <a href="#83" class="mim-tip-reference" title="Sprecher, D. L., Kobayashi, J., Rymaszewski, M., Goldberg, I. J., Harris, B. V., Bellet, P. S., Ameis, D., Yunker, R. L., Black, D. M., Stein, E. A., Schotz, M. C., Wiginton, D. A. <strong>Trp64-to-nonsense mutation in the lipoprotein lipase gene.</strong> J. Lipid Res. 33: 859-866, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1512512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1512512</a>]" pmid="1512512">Sprecher et al. (1992)</a> found a G-to-A transition at nucleotide position 446 of exon 3 of the LPL gene resulting in a premature termination codon, trp64 to ter (W64X). The patient had the ile194-to-thr mutation (I194T; <a href="#0010">609708.0010</a>) in the other allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1512512" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0024" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0024 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, IVS1, G-C, +1
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs766134215 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs766134215;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs766134215?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs766134215" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs766134215" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001607" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001607" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001607</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient from a Southern Italian family with lipoprotein lipase deficiency (<a href="/entry/238600">238600</a>), <a href="#12" class="mim-tip-reference" title="Chimienti, G., Capurso, A., Resta, F., Pepe, G. <strong>A G-to-C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a Southern-Italian family.</strong> Biochem. Biophys. Res. Commun. 187: 620-627, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1530621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1530621</a>] [<a href="https://doi.org/10.1016/0006-291x(92)91240-q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1530621">Chimienti et al. (1992)</a> described homozygosity for a G-to-C transversion at the first nucleotide of intron 1 of the LPL gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1530621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0025" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0025 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, ALA334THR
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs118204071 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204071;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204071" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204071" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001608 OR RCV002247233" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001608, RCV002247233" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001608...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with type I hyperlipidemia (<a href="/entry/238600">238600</a>), <a href="#56" class="mim-tip-reference" title="Kobayashi, J., Sasaki, N., Tashiro, J., Inadera, H., Saito, Y., Yoshida, S. <strong>A missense mutation (ala334-to-thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia.</strong> Biochem. Biophys. Res. Commun. 191: 1046-1054, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8096693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8096693</a>] [<a href="https://doi.org/10.1006/bbrc.1993.1323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8096693">Kobayashi et al. (1993)</a> found a G-to-A transition at nucleotide position 1255 of the LPL gene resulting in a substitution of thr for ala334 (A334T). The patient was a 34-year-old woman whose fasting plasma triglyceride and cholesterol levels were 7,523 mg/dl and 818 mg/dl, respectively, at 35 weeks' gestation. The patient was homozygous. This was the first missense mutation identified in exon 7 of the LPL gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8096693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0026" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0026 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, SER172CYS
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs118204072 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204072;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs118204072?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204072" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204072" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001609" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001609" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001609</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#66" class="mim-tip-reference" title="Ma, Y., Liu, M.-S., Ginzinger, D., Frohlich, J., Brunzell, J. D., Hayden, M. R. <strong>Gene-environment interaction in the conversion of a mild-to-severe phenotype in a patient homozygous for a ser172-to-cys mutation in the lipoprotein lipase gene.</strong> J. Clin. Invest. 91: 1953-1958, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8486765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8486765</a>] [<a href="https://doi.org/10.1172/JCI116414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8486765">Ma et al. (1993)</a> described a ser172-to-cys (S172C) mutation in exon 5 of the LPL gene in a patient with mild hypertriglyceridemia aggravated by pregnancy. Normal pregnancy is associated with a 2- to 3-fold increase in plasma triglyceride levels, particularly in the third trimester, due both to the overproduction of VLDLs and to the possible suppression of lipoprotein lipase activity. The defect in this 30-year-old woman, first diagnosed during pregnancy after she developed pancreatitis, was the first example of partial LPL deficiency (<a href="/entry/238600">238600</a>). Her plasma triglyceride levels remained mildly elevated at approximately 300 mg/dl (3.4 mmol/liter) after the first pregnancy but after she became pregnant again rose to 1800 to 2000 mg/dl (20.2 to 22.5 mmol/liter). In vitro mutagenesis revealed that the S172C mutation resulted in a mutant LPL protein with residual activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8486765" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0027" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0027 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, ARG75SER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs118204073 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204073;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs118204073?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204073" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204073" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001610 OR RCV003555887" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001610, RCV003555887" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001610...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with type I hyperlipoproteinemia (<a href="/entry/238600">238600</a>) with chylomicronemia, pancreatitis, and noninsulin-dependent diabetes, <a href="#88" class="mim-tip-reference" title="Wilson, D. E., Hata, A., Kwong, L. K., Lingam, A., Shuhua, J., Ridinger, D. N., Yeager, C., Kaltenborn, K. C., Iverius, P.-H., Lalouel, J.-M. <strong>Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes.</strong> J. Clin. Invest. 92: 203-211, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8325986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8325986</a>] [<a href="https://doi.org/10.1172/JCI116551" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8325986">Wilson et al. (1993)</a> demonstrated compound heterozygosity for mutations in the LPL gene, a missense mutation (arg75 to ser; R75S) inherited through the paternal line and a truncation (tyr73 to ter; Y73X) inherited through the maternal line. NIDDM appeared to be segregating independently. They found that there were detectable amounts of catalytically competent R75S LPL and interpreted this to mean that destabilization of the active homodimer resulted from the missense mutation as with exon 5 mutants (<a href="#38" class="mim-tip-reference" title="Hata, A., Ridinger, D. N., Sutherland, S. D., Emi, M., Kwong, L. K., Shuhua, J., Lubbers, A., Guy-Grand, B., Basdevant, A., Iverius, P. H., Wilson, D. E., Lalouel, J.-M. <strong>Missense mutations in exon 5 of the human lipoprotein lipase gene: inactivation correlates with loss of dimerization.</strong> J. Biol. Chem. 267: 20132-20139, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1400331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1400331</a>]" pmid="1400331">Hata et al., 1992</a>). Subjects with NIDDM and wildtype LPL, and nondiabetic middle-aged carriers of the Y73X truncation had moderate hypertriglyceridemia and reduced high density lipoprotein cholesterol. A maternal aunt of the proband with NIDDM carried the truncation. Her phenotype (triglycerides of 5,300 mg/dl, eruptive xanthomatosis, and recurrent pancreatitis) was as severe as that in homozygotes or compound heterozygotes. <a href="#88" class="mim-tip-reference" title="Wilson, D. E., Hata, A., Kwong, L. K., Lingam, A., Shuhua, J., Ridinger, D. N., Yeager, C., Kaltenborn, K. C., Iverius, P.-H., Lalouel, J.-M. <strong>Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes.</strong> J. Clin. Invest. 92: 203-211, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8325986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8325986</a>] [<a href="https://doi.org/10.1172/JCI116551" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8325986">Wilson et al. (1993)</a> concluded that diabetic carriers of dysfunctional LPL alleles are at risk for severe lipemia, and that the physiologic defects in NIDDM may be additive or synergistic with heterozygous LPL deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1400331+8325986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0028" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0028 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, TYR73TER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs118204074 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204074;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs118204074?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001595 OR RCV003555886" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001595, RCV003555886" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001595...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>A Y73X mutation in the LPL gene was found by <a href="#88" class="mim-tip-reference" title="Wilson, D. E., Hata, A., Kwong, L. K., Lingam, A., Shuhua, J., Ridinger, D. N., Yeager, C., Kaltenborn, K. C., Iverius, P.-H., Lalouel, J.-M. <strong>Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes.</strong> J. Clin. Invest. 92: 203-211, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8325986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8325986</a>] [<a href="https://doi.org/10.1172/JCI116551" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8325986">Wilson et al. (1993)</a> in a compound heterozygote with type I hyperlipoproteinemia (<a href="/entry/238600">238600</a>) who had the R75S mutation (<a href="#0027">609708.0027</a>) on the other chromosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8325986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0029" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0029 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, GLY195GLU
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs118204075 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204075;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204075" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204075" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001611" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001611" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001611</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with LPL deficiency (<a href="/entry/238600">238600</a>), <a href="#38" class="mim-tip-reference" title="Hata, A., Ridinger, D. N., Sutherland, S. D., Emi, M., Kwong, L. K., Shuhua, J., Lubbers, A., Guy-Grand, B., Basdevant, A., Iverius, P. H., Wilson, D. E., Lalouel, J.-M. <strong>Missense mutations in exon 5 of the human lipoprotein lipase gene: inactivation correlates with loss of dimerization.</strong> J. Biol. Chem. 267: 20132-20139, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1400331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1400331</a>]" pmid="1400331">Hata et al. (1992)</a> found a G-to-A transition at nucleotide 839 in exon 5 of the LDL gene, which resulted in a substitution of glutamic acid for glycine at amino acid 195 (G195E). The patient was homozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1400331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0030" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0030 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, ASP180GLU
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs118204076 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204076;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs118204076?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204076" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204076" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001612 OR RCV001851557" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001612, RCV001851557" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001612...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 members of an Italian family affected with type I hyperlipoproteinemia (<a href="/entry/238600">238600</a>), <a href="#39" class="mim-tip-reference" title="Haubenwallner, S., Horl, G., Shachter, N. S., Presta, E., Fried, S. K., Hofler, G., Kostner, G. M., Breslow, J. L., Zechner, R. <strong>A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (asp180-to-glu) causes familial chylomicronemia (type I hyperlipoproteinemia).</strong> Genomics 18: 392-396, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8288243/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8288243</a>] [<a href="https://doi.org/10.1006/geno.1993.1481" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8288243">Haubenwallner et al. (1993)</a> found a C-to-G mutation in exon 5 of the LPL gene causing a highly conservative amino acid replacement of glutamic acid for aspartic acid at position 180 of the mature LPL protein (D180E). The mutation resulted in virtual absence of LPL enzyme activity and LPL enzyme mass in postheparin plasma. Both patients were homozygous for the mutation, whereas the parents were heterozygous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8288243" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0031" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0031 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, ARG243CYS
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs118204077 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204077;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs118204077?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001613 OR RCV001055155 OR RCV002415386 OR RCV003894783 OR RCV005049311" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001613, RCV001055155, RCV002415386, RCV003894783, RCV005049311" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001613...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 patients with familial chylomicronemia (<a href="/entry/238600">238600</a>), one of German and one of French descent, <a href="#65" class="mim-tip-reference" title="Ma, Y., Liu, M.-S., Chitayat, D., Bruin, T., Beisiegel, U., Benlian, P., Foubert, L., De Gennes, J. L., Funke, H., Forsythe, I., Blaichman, S., Papanikolaou, M., Erkelens, D. W., Kastelein, J., Brunzell, J. D., Hayden, M. R. <strong>Recurrent missense mutations at the first and second base of codon arg243 in human lipoprotein lipase in patients of different ancestries.</strong> Hum. Mutat. 3: 52-58, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7906986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7906986</a>] [<a href="https://doi.org/10.1002/humu.1380030109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7906986">Ma et al. (1994)</a> found an arg243-to-cys (R243C) substitution in the LPL gene. Haplotype analysis favored 2 separate origins for the substitution. Recurrent mutations resulting in an arg243-to-his substitution (<a href="#0011">609708.0011</a>) have also been observed. These mutations affect a CGC codon and support the high mutability of CpG dinucleotides within the LPL gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7906986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0032" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0032 COMBINED HYPERLIPIDEMIA, FAMILIAL, SUSCEPTIBILITY TO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, -39T-C, PROMOTER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2128835067 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2128835067;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2128835067" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2128835067" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001614 OR RCV004689400" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001614, RCV004689400" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001614...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#96" class="mim-tip-reference" title="Yang, W.-S., Nevin, D. N., Peng, R., Brunzell, J. D., Deeb, S. S. <strong>A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity.</strong> Proc. Nat. Acad. Sci. 92: 4462-4466, 1995. Note: Erratum: Proc. Nat. Acad. Sci. 93: 524 only, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7753827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7753827</a>] [<a href="https://doi.org/10.1073/pnas.92.10.4462" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7753827">Yang et al. (1995)</a> found that 1 of 20 patients with familial combined hyperlipidemia (FCHL; <a href="/entry/144250">144250</a>) and reduced levels of postheparin plasma LPL activity was compound heterozygous for 2 promoter mutations in the LPL gene: a T-to-C substitution at nucleotide -39 in the binding site of the transcription factor OCT1 (<a href="/entry/164175">164175</a>) and a T-to-G substitution at nucleotide -93 (<a href="#0038">609708.0038</a>). The transcriptional activity of the -39 mutant promoter was less than 15% of wildtype, and that of the -93 mutant promoter was less than 50% of wildtype, as determined by transfection studies in a human macrophage-like cell line. This decrease in promoter activity was observed in undifferentiated as well as in phorbol ester-differentiated cells. Furthermore, the inductive affect of elevating the levels of intracellular cAMP was equally reduced. The lipid and lipoprotein profiles of heterozygous relative of LPL-deficient probands often resemble those of patients with a mild form of FCHL. Elevated apolipoprotein B, triglyceride and/or cholesterol are features of FCHL. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7753827" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0033" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0033 COMBINED HYPERLIPIDEMIA, FAMILIAL, SUSCEPTIBILITY TO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, ASN291SER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs268 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs268;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs268?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs268" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs268" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001615 OR RCV000781944 OR RCV000988041 OR RCV001356263 OR RCV002222335 OR RCV002371753 OR RCV002467488" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001615, RCV000781944, RCV000988041, RCV001356263, RCV002222335, RCV002371753, RCV002467488" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001615...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 20 of 169 unrelated male patients suffering from familial combined hyperlipidemia (FCHL; <a href="/entry/144250">144250</a>), <a href="#78" class="mim-tip-reference" title="Reymer, P. W. A., Groenemeyer, B. E., Gagne, E., Miao, L., Appelman, E. E. G., Seidel, J. C., Kromhout, D., Bijvoet, S. M., van de Oever, K., Bruin, T., Hayden, M. R., Kastelein, J. J. P. <strong>A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia.</strong> Hum. Molec. Genet. 4: 1543-1549, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541837</a>] [<a href="https://doi.org/10.1093/hmg/4.9.1543" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8541837">Reymer et al. (1995)</a> found a nucleotide substitution in exon 6 of the LPL gene resulting in an asn291-to-ser substitution (N291S). This mutation was also present in 15 male controls, albeit at a lower frequency: 4.6% in controls versus 11.8% in FCHL patients (p less than 0.02). An association was demonstrated between the N291S substitution and decreased HDL cholesterol. FCHL patients carrying this mutation showed decreased HDL cholesterol and increased triglyceride levels compared to noncarriers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8541837" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0034" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0034 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, LEU365VAL
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs118204078 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204078;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204078" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204078" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001616" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001616" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001616</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Italian (Apulia) family with lipoprotein lipase deficiency (<a href="/entry/238600">238600</a>), <a href="#76" class="mim-tip-reference" title="Pepe, G., Chimienti, G., Resta, F., Di Perna, V., Tarricone, C., Lovecchio, M., Colacicco, A. M., Capurso, A. <strong>A new Italian case of lipoprotein lipase deficiency: a leu365-to-val change resulting in loss of enzyme activity.</strong> Biochem. Biophys. Res. Commun. 199: 570-576, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8135797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8135797</a>] [<a href="https://doi.org/10.1006/bbrc.1994.1266" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8135797">Pepe et al. (1994)</a> described a C-to-G transversion in exon 8 of the LPL gene, which changed leucine to valine at position 365 (L365V), causing a severe mass reduction and loss of enzymatic activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8135797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0035" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0035 COMBINED HYPERLIPIDEMIA, FAMILIAL, SUSCEPTIBILITY TO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, ASP9ASN
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1801177 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1801177;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1801177?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1801177" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1801177" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001617 OR RCV000157298 OR RCV000352575 OR RCV000454647 OR RCV000733476 OR RCV002408446 OR RCV003924794" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001617, RCV000157298, RCV000352575, RCV000454647, RCV000733476, RCV002408446, RCV003924794" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001617...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#72" class="mim-tip-reference" title="Nevin, D. N., Brunzell, J. D., Deeb, S. S. <strong>The LPL gene in individuals with familial combined hyperlipidemia and decreased LPL activity.</strong> Arterioscler. Thromb. 14: 869-873, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8199176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8199176</a>] [<a href="https://doi.org/10.1161/01.atv.14.6.869" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8199176">Nevin et al. (1994)</a> reported that mutations in the LPL gene, including D9N, are present in a subgroup of FCHL patients (<a href="/entry/144250">144250</a>). <a href="#78" class="mim-tip-reference" title="Reymer, P. W. A., Groenemeyer, B. E., Gagne, E., Miao, L., Appelman, E. E. G., Seidel, J. C., Kromhout, D., Bijvoet, S. M., van de Oever, K., Bruin, T., Hayden, M. R., Kastelein, J. J. P. <strong>A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia.</strong> Hum. Molec. Genet. 4: 1543-1549, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541837</a>] [<a href="https://doi.org/10.1093/hmg/4.9.1543" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8541837">Reymer et al. (1995)</a> claimed that 20% of Dutch hyperlipidemic individuals have the N291S mutation (<a href="#0033">609708.0033</a>). <a href="#17" class="mim-tip-reference" title="De Bruin, T. W. A., Mailly, F., Van Barlingen, H. H. J. J., Fisher, R., Castro Cabezas, M., Talmud, P., Dallinga-Thie, G. M., Humphries, S. E. <strong>Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia.</strong> Europ. J. Clin. Invest. 26: 631-639, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8872057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8872057</a>] [<a href="https://doi.org/10.1111/j.1365-2362.1996.tb02146.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8872057">De Bruin et al. (1996)</a> screened a group of 28 probands with familial combined hyperlipidemia and group of 91 population controls for the 2 LPL gene mutations, D9N and N291S. In this way, 2 pedigrees from probands with the D9N mutation and 2 pedigrees from probands with the N291S mutation were studied, representing a total of 24 subjects. Both LPL gene mutations were associated with a significant effect on plasma lipids and apolipoproteins. Presence of the D9N mutation (n = 7) was associated with hypertriglyceridemia and reduced plasma high-density lipoprotein cholesterol concentrations. LPL-D9N carriers had higher diastolic blood pressure than noncarriers. Linkage analysis revealed no significant relationship between the D9N or N291S LPL gene mutations and the FCH phenotype (hypertriglyceridemia, hypercholesterolemia, or increased apo-B concentrations). <a href="#17" class="mim-tip-reference" title="De Bruin, T. W. A., Mailly, F., Van Barlingen, H. H. J. J., Fisher, R., Castro Cabezas, M., Talmud, P., Dallinga-Thie, G. M., Humphries, S. E. <strong>Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia.</strong> Europ. J. Clin. Invest. 26: 631-639, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8872057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8872057</a>] [<a href="https://doi.org/10.1111/j.1365-2362.1996.tb02146.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8872057">De Bruin et al. (1996)</a> concluded that the LPL gene did not represent the major single gene causing familial combined hyperlipidemia in the 4 pedigrees studied, but that the D9N and N291S mutations had significant additional effects on lipid and apolipoprotein phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8541837+8872057+8199176" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#92" class="mim-tip-reference" title="Wittrup, H. H., Tybjaerg-Hansen, A., Steffensen, R., Deeb, S. S., Brunzell, J. D., Jensen, G., Nordestgaard, B. G. <strong>Mutations in the lipoprotein lipase gene associated with ischemic heart disease in men: the Copenhagen City Heart Study.</strong> Arterioscler. Thromb. Vasc. Biol. 19: 1535-1540, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364086</a>] [<a href="https://doi.org/10.1161/01.atv.19.6.1535" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10364086">Wittrup et al. (1999)</a> undertook to test the hypothesis that the D9N substitution and the -93T-G mutation (<a href="#0038">609708.0038</a>) in the promoter of the LPL gene affect plasma lipid levels and thereby the risk of IHD. They genotyped 9,033 men and women from a general population sample and 940 patients with IHD. The frequency of both the G allele and the asn9 allele in the general population sample was approximately 0.015 for both men and women. These 2 mutations appeared together in 95% of carriers. The average triglyceride-raising effect associated with double heterozygosity for the 2 mutations was 0.28 mmol/L (p = 0.004) and 0.16 mmol/L (p = 0.10) in men and women, respectively. Of the overall risk of IHD in men in the general population, the fraction attributable to double heterozygosity was 3%, similar to the 5% attributable to diabetes mellitus. The results demonstrated that the D9N substitution is in linkage disequilibrium with the -93T-G mutation and that the double-heterozygous carrier status is associated with elevated plasma triglycerides and an increased risk of IHD in men. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10364086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Boer, J. M. A., Kuivenhoven, J. A., Feskens, E. J. M., Schouten, E. G., Havekes, L. M., Seidell, J. C., Kastelein, J. J. P., Kromhout, D. <strong>Physical activity modulates the effect of a lipoprotein lipase mutation (D9N) on plasma lipids and lipoproteins.</strong> Clin. Genet. 56: 158-163, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10517255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10517255</a>] [<a href="https://doi.org/10.1034/j.1399-0004.1999.560212.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10517255">Boer et al. (1999)</a> studied the interaction between the common D9N mutation in the LPL gene and physical activity, as well as other lifestyle factors, on lipid traits in a population-based sample of 379 Dutch men and women. Nonfasting blood samples were used for determination of lipid traits and the D9N genotype. Fifteen subjects (4%) were found to have the mutation; all 15 had higher levels of total cholesterol, apoB, and triglycerides as compared to noncarriers. While no interactions with overweight, alcohol consumption, and smoking were found, a strong interaction between the D9N mutation and physical activity was apparent. The 5 physically inactive D9N carriers had significantly higher total cholesterol and apoB levels as compared to noncarriers, whereas their HDL cholesterol concentrations were lower. The same was not the case for the 10 physically active carriers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10517255" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0036" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0036 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, CYS418TYR
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs118204079 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204079;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204079" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204079" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001618" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001618" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001618</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#44" class="mim-tip-reference" title="Henderson, H. E., Hassan, F., Marais, D., Hayden, M. R. <strong>A new mutation destroying disulphide bridging in the C-terminal domain of lipoprotein lipase.</strong> Biochem. Biophys. Res. Commun. 227: 189-194, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8858123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8858123</a>] [<a href="https://doi.org/10.1006/bbrc.1996.1487" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8858123">Henderson et al. (1996)</a> reported the discovery of a second allelic variant of LPL in a patient previously described with an ile194-to-thr (I194T; <a href="#0010">609708.0010</a>) mutation. This patient, a South African male of Dutch and Malay ancestry, was diagnosed in childhood as LPL deficient (<a href="/entry/238600">238600</a>) and was diagnosed after puberty with hypertriglyceridemia. He had no detectable LPL activity. DNA analysis revealed a G-to-A transition at nucleotide 1508 resulting in a cys418-to-tyr substitution (C418Y). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8858123" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#44" class="mim-tip-reference" title="Henderson, H. E., Hassan, F., Marais, D., Hayden, M. R. <strong>A new mutation destroying disulphide bridging in the C-terminal domain of lipoprotein lipase.</strong> Biochem. Biophys. Res. Commun. 227: 189-194, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8858123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8858123</a>] [<a href="https://doi.org/10.1006/bbrc.1996.1487" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8858123">Henderson et al. (1996)</a> mutated the human LPL cDNA by site-directed mutagenesis to produce the C418Y substitution, a C438S substitution, and a C418S/C438S double mutant. By studying COS cells transiently transfected with these mutants, they showed that the C418Y mutation had 48% of normal activity while the C438S and C418S/C438S double mutant had 76% and 78% of normal activity, respectively. These decreased levels of activity were accounted for by the lower protein mass levels of the mutants rather than by decreased enzymatic activities. <a href="#44" class="mim-tip-reference" title="Henderson, H. E., Hassan, F., Marais, D., Hayden, M. R. <strong>A new mutation destroying disulphide bridging in the C-terminal domain of lipoprotein lipase.</strong> Biochem. Biophys. Res. Commun. 227: 189-194, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8858123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8858123</a>] [<a href="https://doi.org/10.1006/bbrc.1996.1487" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8858123">Henderson et al. (1996)</a> stated that their in vitro findings agree with those of <a href="#62" class="mim-tip-reference" title="Lo, J. Y., Smith, L. C., Chan, L. <strong>Lipoprotein lipase: role of intramolecular disulfide bonds in enzyme catalysis.</strong> Biochem. Biophys. Res. Commun. 206: 266-271, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7818530/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7818530</a>] [<a href="https://doi.org/10.1006/bbrc.1995.1037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7818530">Lo et al. (1995)</a>; however, their results did not explain why their I194T/C418Y patient (<a href="#0010">609708.0010</a>, <a href="#0036">609708.0036</a>) had no detectable LPL activity. In vitro transfection experiments discounted a dominant-negative effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8858123+7818530" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0037" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0037 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, ILE225THR
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs118204080 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204080;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs118204080?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204080" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204080" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001619 OR RCV001039273 OR RCV005041965" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001619, RCV001039273, RCV005041965" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001619...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with chylomicronemia (<a href="/entry/238600">238600</a>), <a href="#42" class="mim-tip-reference" title="Henderson, H. E., Bijvoet, S. M., Mannens, M. A. M. M., Bruin, T., Erkelens, D. W., Hayden, M. R., Kastelein, J. J. P. <strong>Ile225-to-thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event.</strong> Am. J. Med. Genet. 78: 313-316, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9714430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9714430</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19980724)78:4<313::aid-ajmg1>3.0.co;2-m" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9714430">Henderson et al. (1998)</a> found compound heterozygosity for mutations in the LPL gene: arg243 to his (R243H; <a href="#0011">609708.0011</a>) and ile225 to thr (I225T). The latter was the first and only mutation identified in the loop region of LPL. Both parents of the propositus were screened for the presence of these 2 mutations; although the R243H mutation was found in the father, the I225T mutation was not found in the maternal DNA. Maternity was confirmed by polymorphic markers. Therefore, <a href="#42" class="mim-tip-reference" title="Henderson, H. E., Bijvoet, S. M., Mannens, M. A. M. M., Bruin, T., Erkelens, D. W., Hayden, M. R., Kastelein, J. J. P. <strong>Ile225-to-thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event.</strong> Am. J. Med. Genet. 78: 313-316, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9714430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9714430</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19980724)78:4<313::aid-ajmg1>3.0.co;2-m" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9714430">Henderson et al. (1998)</a> concluded that this represents a new mutation, the first to be reported in the LPL gene. The patient first presented at the age of 19 years with acute epigastric pain caused by pancreatitis and an underlying chylomicronemia (fasting triglyceride more than 25 mmol/L). Between the ages of 19 and 25 years, he was hospitalized for pancreatitis at least once a year. The patient was a Dutch citizen. The R243H mutation had been described in persons of Chinese, Japanese, and Italian descent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9714430" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0038" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0038 COMBINED HYPERLIPIDEMIA, FAMILIAL, SUSCEPTIBILITY TO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, -93T-G, PROMOTER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1800590 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1800590;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1800590?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1800590" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1800590" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000326637 OR RCV001512925 OR RCV001823726" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000326637, RCV001512925, RCV001823726" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000326637...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>While examining 762 Dutch males with angiographically diagnosed coronary artery disease and 296 healthy normolipidemic Dutch males, <a href="#48" class="mim-tip-reference" title="Kastelein, J. J. P., Groenemeyer, B. E., Hallman, D. M., Henderson, H., Reymer, P. W. A., Gagne, S. E., Jansen, H., Seidell, J. C., Kromhout, D., Jukema, J. W., Bruschke, A. V. G., Boerwinkle, E., Hayden, M. R., The Regress Study Group. <strong>The asn9 variant of lipoprotein lipase is associated with the -93G promoter mutation and an increased risk of coronary artery disease.</strong> Clin. Genet. 53: 27-33, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9550358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9550358</a>] [<a href="https://doi.org/10.1034/j.1399-0004.1998.531530106.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9550358">Kastelein et al. (1998)</a> found that the D9N mutation in exon 2 of the LPL gene (<a href="#0035">609708.0035</a>) was associated with a second mutation, a T-to-G transversion at position -93 of the proximal promoter region. The 2 mutations exhibited strong linkage disequilibrium, and a higher proportion of cases (4.86%) than controls (1.37%) carried the combined mutation. In the combined sample of cases and controls, adjusted mean plasma total cholesterol levels were significantly higher in the combined mutation carriers than in noncarriers, while mean HDL levels were lower in carriers than in noncarriers. Logistic regression revealed a significant odds ratio for the combined mutation in coronary artery disease cases relative to controls (odds ratio 5.36 with a 95% confidence interval of 1.57 to 18.24), with age, body mass index, smoking, and plasma total- and HDL-cholesterol levels included in the model. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9550358" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a large Utah kindred with familial dyslipidemia (<a href="/entry/144250">144250</a>) ascertained through a proband with coronary heart disease, <a href="#80" class="mim-tip-reference" title="Samuels, M. E., Forbey, K. C., Reid, J. E., Abkevich, V., Bulka, K., Wardell, B. R., Bowen, B. R., Hopkins, P. N., Hunt, S. C., Ballinger, D. G., Skolnick, M. H., Wagner, S. <strong>Identification of a common variant in the lipoprotein lipase gene in a large Utah kindred ascertained for coronary heart disease: the -93G/D9N variant predisposes to low HDL-C/high triglycerides.</strong> Clin. Genet. 59: 88-98, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11260209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11260209</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2001.590205.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11260209">Samuels et al. (2001)</a> identified the -93G/D9N (<a href="#0035">609708.0035</a>) variant haplotype. In this family the variant showed high penetrance for a hypoalphalipoproteinemia phenotype, but was also associated with hypertriglyceridemia and elevated insulin levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11260209" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0039" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0039 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
LIPOPROTEIN LIPASE (OLBIA)
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, TYR302TER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs118204081 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204081;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001621 OR RCV000001622" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001621, RCV000001622" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001621...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a young Sardinian boy from Olbia with lipoprotein lipase deficiency (<a href="/entry/238600">238600</a>), <a href="#8" class="mim-tip-reference" title="Bertolini, S., Simone, M. L., Pes, G. M., Ghisellini, M., Rolleri, M., Bellocchio, A., Elicio, N., Masturzo, P., Calandra, S. <strong>Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (tyr302-to-term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL-Olbia).</strong> Clin. Genet. 57: 140-147, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10735636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10735636</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2000.570209.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10735636">Bertolini et al. (2000)</a> found a nonsense mutation (tyr302 to ter; Y302X) in exon 6 of the LPL gene. The patient presented with hepatosplenomegaly and hyperlipidemia at the age of 7 months. He was also a carrier of beta-0-thalassemia (HBB; <a href="/entry/141900#0312">141900.0312</a>). The parents came from the same district of northwest Sardinia. The Y302X change was due to homozygosity for a C-to-A transversion which eliminated an RsaI restriction site, which made rapid screening of the family members possible. Nine heterozygotes and 1 additional homozygote were identified. The homozygote was the proband's paternal grandmother who had shown the first clinical manifestation (recurrent pancreatitis) at the age of 54 years. Heterozygotes showed a mild dyslipidemic phenotype characterized by a reduction of high density lipoprotein cholesterol (HDL-C) levels, HDL-C/total cholesterol ratio, and low density lipoprotein (LDL) size, associated with a variable increase of triglyceride levels. Five of the LPL heterozygotes were found to be heterozygous also for beta-0-thalassemia due to the Q39X mutation in the HBB gene. In the carriers of both mutations, plasma HDL-C levels were higher and plasma triglycerides tended to be lower than in carriers of the LPL mutation alone. The Y302X mutation encoded a truncated protein of 301 amino acids that was thought not to be secreted by LPL-producing cells. This was said to be the first mutation of the LPL gene found in Sardinians. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10735636" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0040" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0040 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, CYS239TRP
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs118204082 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204082;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs118204082?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118204082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001623" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001623" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001623</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#46" class="mim-tip-reference" title="Hoffmann, M. M., Jacob, S., Luft, D., Schmulling, R.-M., Rett, K., Marz, W., Haring, H.-U., Matthaei, S. <strong>Type I hyperlipoproteinemia due to a novel loss of function mutation of lipoprotein lipase, cys239-trp, associated with recurrent severe pancreatitis.</strong> J. Clin. Endocr. Metab. 85: 4795-4798, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11134145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11134145</a>] [<a href="https://doi.org/10.1210/jcem.85.12.7069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11134145">Hoffmann et al. (2000)</a> studied the molecular pathogenesis of type I hyperlipoproteinemia (<a href="/entry/238600">238600</a>) in a patient suffering from recurrent severe pancreatitis. Apolipoprotein CII concentration was normal as well as apolipoprotein CII-activated LPL in an in vitro assay. Direct sequencing of all 10 exons of the LPL gene revealed that the patient was homozygous for a cys239-to-trp (C239W) mutation in exon 6. The mutation prevents the formation of the second disulfide bridge of LPL, which is an essential part of the lid covering the catalytic center. Consequently, misfolded LPL is rapidly degraded within the cells, causing the absence of LPL immunoreactive protein in the plasma of the patient. After initiation of heparin therapy, the patient experienced no more episodes of pancreatitis, although heparin therapy did not affect serum triglyceride levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11134145" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0041" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0041 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, 1-BP DEL, CODON 172
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001624" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001624" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001624</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with LPL deficiency (<a href="/entry/238600">238600</a>) and severe hypertriglyceridemia with recurrent pancreatitis, <a href="#77" class="mim-tip-reference" title="Pruneta-Deloche, V., Marcais, C., Perrot, L., Sassolas, A., Delay, M., Estour, B., Lagarde, M., Moulin, P. <strong>Combination of circulating antilipoprotein lipase (anti-LPL) antibody and heterozygous S172fsX179 mutation of LPL gene leading to chronic hyperchylomicronemia.</strong> J. Clin. Endocr. Metab. 90: 3995-3998, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15840743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15840743</a>] [<a href="https://doi.org/10.1210/jc.2005-0205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15840743">Pruneta-Deloche et al. (2005)</a> detected a heterozygous 1-bp deletion at the second nucleotide of codon 172 of lipoprotein lipase, which resulted in frameshift, premature termination (Ser172fsTer179), and an inactive peptide. The mutation was associated with an antihuman LPL IgG. This autoantibody partially inhibited wildtype LPL activity in vitro. Furthermore, the patient's plasma triglyceride concentrations were efficiently decreased under immunosuppressive treatment, and this was confirmed by sequential withdrawal/reintroduction tests. The patient presented with severe unmanageable type V hyperlipoproteinemia with fasting chylomicronemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15840743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0042" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0042 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 11</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, A-G (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs326;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs326</a>)
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs326 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs326;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs326?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs326" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs326" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001625 OR RCV001618206" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001625, RCV001618206" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001625...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an association study of 7 HDL metabolism genes in participants in the Dallas Heart Study and in 849 African American men and women from Maywood, Illinois, <a href="#82" class="mim-tip-reference" title="Spirin, V., Schmidt, S., Pertsemlidis, A., Cooper, R. S., Cohen, J. C., Sunyaev, S. R. <strong>Common single-nucleotide polymorphisms act in concert to affect plasma levels of high-density lipoprotein cholesterol.</strong> Am. J. Hum. Genet. 81: 1298-1303, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17952847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17952847</a>] [<a href="https://doi.org/10.1086/522497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17952847">Spirin et al. (2007)</a> identified a SNP of the LPL gene, <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs326;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs326</a>, that was associated with incremental changes in HDL cholesterol levels in 3 independent samples (see HDLCQ11, <a href="/entry/238600">238600</a>). This SNP achieved a P value of 3.49 x 10(-8) in analysis of covariance in the entire sample in a model that included race, sex, age, and body mass index (BMI). The A allele was associated with lowering of HDL cholesterol. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17952847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#79" class="mim-tip-reference" title="Richardson, K., Nettleton, J. A., Rotllan, N., Tanaka, T., Smith, C. E., Lai, C.-Q., Parnell, L. D., Lee, Y.-C., Lahti, J., Lemaitre, R. N., Manichaikul, A., Keller, M., and 34 others. <strong>Gain-of-function lipoprotein lipase variant {dbSNP rs13702} modulates lipid traits through disruption of a microRNA-410 seed site.</strong> Am. J. Hum. Genet. 92: 5-14, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23246289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23246289</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23246289[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23246289">Richardson et al. (2013)</a> showed that <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs326;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs326</a> is in linkage disequilibrium with <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs13702;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs13702</a> (<a href="#0043">609708.0043</a>), which is the functional variant in this LD region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23246289" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0043" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0043 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 11</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
LPL, T-C (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs13702;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs13702</a>)
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs13702 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs13702;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs13702?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs13702" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs13702" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000033176 OR RCV000353989 OR RCV001519438" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033176, RCV000353989, RCV001519438" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033176...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#79" class="mim-tip-reference" title="Richardson, K., Nettleton, J. A., Rotllan, N., Tanaka, T., Smith, C. E., Lai, C.-Q., Parnell, L. D., Lee, Y.-C., Lahti, J., Lemaitre, R. N., Manichaikul, A., Keller, M., and 34 others. <strong>Gain-of-function lipoprotein lipase variant {dbSNP rs13702} modulates lipid traits through disruption of a microRNA-410 seed site.</strong> Am. J. Hum. Genet. 92: 5-14, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23246289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23246289</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23246289[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23246289">Richardson et al. (2013)</a> identified the SNP <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs13702;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs13702</a> as the strongest functional candidate within a large linkage disequilibrium (LD) block at the LPL locus identified in genomewide association studies. The SNP <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs13702;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs13702</a> showed significant association with triglyceride levels (p = 3.182 x 10(-42)) and HDL cholesterol levels (p = 1.316 x 10(-32)), with each copy of the minor allele showing a 0.60 mmol/l lower triglyceride and a 0.041 mmol/l higher HDL (see HDLCQ11, <a href="/entry/238600">238600</a>). The effect of this variant on both triglyceride and HDL levels was consistent across 10 participating cohorts. The <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs13702;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs13702</a> minor C allele abolishes the response of a functional mIR410 (<a href="/entry/615036">615036</a>) recognition element in the human LPL 3-prime untranslated region. <a href="#79" class="mim-tip-reference" title="Richardson, K., Nettleton, J. A., Rotllan, N., Tanaka, T., Smith, C. E., Lai, C.-Q., Parnell, L. D., Lee, Y.-C., Lahti, J., Lemaitre, R. N., Manichaikul, A., Keller, M., and 34 others. <strong>Gain-of-function lipoprotein lipase variant {dbSNP rs13702} modulates lipid traits through disruption of a microRNA-410 seed site.</strong> Am. J. Hum. Genet. 92: 5-14, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23246289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23246289</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23246289[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23246289">Richardson et al. (2013)</a> showed that human LPL transcripts harboring the <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs13702;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs13702</a> major T allele are targeted and their translation partially inhibited by mIR410, and that this interaction is abrogated in transcripts containing the minor C allele. <a href="#79" class="mim-tip-reference" title="Richardson, K., Nettleton, J. A., Rotllan, N., Tanaka, T., Smith, C. E., Lai, C.-Q., Parnell, L. D., Lee, Y.-C., Lahti, J., Lemaitre, R. N., Manichaikul, A., Keller, M., and 34 others. <strong>Gain-of-function lipoprotein lipase variant {dbSNP rs13702} modulates lipid traits through disruption of a microRNA-410 seed site.</strong> Am. J. Hum. Genet. 92: 5-14, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23246289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23246289</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23246289[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23246289">Richardson et al. (2013)</a> also showed a gene-by-diet interaction between <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs13702;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs13702</a> and polyunsaturated fatty acid intake on triglyceride and HDL levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23246289" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="references"class="mim-anchor"></a>
|
|
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
|
|
<ol>
|
|
|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Ameis1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ameis, D., Kobayashi, J., Davis, R. C., Ben-Zeev, O., Malloy, M. J., Kane, J. P., Lee, G., Wong, H., Havel, R. J., Schotz, M. C.
|
|
<strong>Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.</strong>
|
|
J. Clin. Invest. 87: 1165-1170, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2010533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2010533</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2010533" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI115114" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Aulchenko2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Aulchenko, Y. S., Ripatti, S., Lindqvist, I., Boomsma, D., Heid, I. M., Pramstaller, P. P., Penninx, B. W. J. H., Janssens, A. C. J. W., Wilson, W. F., Spector, T., Martin, N. G., Pedersen, N. L.
|
|
<strong>{and 45 others}: Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.</strong>
|
|
Nature Genet. 41: 47-55, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19060911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19060911</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19060911[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19060911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng.269" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Beg1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Beg, O. U., Meng, M. S., Skarlatos, S. I., Previato, L., Brunzell, J. D., Brewer, H. B., Jr., Fojo, S. S.
|
|
<strong>Lipoprotein lipase(Bethesda): a single amino acid substitution (ala176-to-thr) leads to abnormal heparin binding and loss of enzymic activity.</strong>
|
|
Proc. Nat. Acad. Sci. 87: 3474-3478, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2110364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2110364</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2110364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.87.9.3474" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Beigneux2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Beigneux, A. P., Davies, B. S. J., Gin, P., Weinstein, M. M., Farber, E., Qiao, X., Peale, F., Bunting, S., Walzem, R. L., Wong, J. S., Blaner, W. S., Ding, Z.-M., Melford, K., Wongsiriroj, N., Shu, X., de Sauvage, F., Ryan, R. O., Fong, L. G., Bensadoun, A., Young, S. G.
|
|
<strong>Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons.</strong>
|
|
Cell Metab. 5: 279-291, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17403372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17403372</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17403372[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17403372" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.cmet.2007.02.002" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Benlian1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Benlian, P., De Gennes, J. L., Foubert, L., Zhang, H., Gagne, S. E., Hayden, M.
|
|
<strong>Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene.</strong>
|
|
New Eng. J. Med. 335: 848-854, 1996. Note: Erratum: New Eng. J. Med. 336: 451 only, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8778602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8778602</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8778602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM199609193351203" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Benlian1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Benlian, P., Foubert, L., Gagne, E., Bernard, L., De Gennes, J. L., Langlois, S., Robinson, W., Hayden, M.
|
|
<strong>Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.</strong>
|
|
Am. J. Hum. Genet. 59: 431-436, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8755931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8755931</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8755931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Bergeron1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bergeron, J., Normand, T., Bharucha, A., Ven Murthy, M. R., Julien, P., Gagne, C., Dionne, C., De Braekeleer, M., Brun, D., Hayden, M. R., Lupien, P. J.
|
|
<strong>Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Quebec.</strong>
|
|
Clin. Genet. 41: 206-210, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1576758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1576758</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1576758" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03664.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Bertolini2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bertolini, S., Simone, M. L., Pes, G. M., Ghisellini, M., Rolleri, M., Bellocchio, A., Elicio, N., Masturzo, P., Calandra, S.
|
|
<strong>Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (tyr302-to-term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL-Olbia).</strong>
|
|
Clin. Genet. 57: 140-147, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10735636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10735636</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10735636" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1034/j.1399-0004.2000.570209.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Boer1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Boer, J. M. A., Kuivenhoven, J. A., Feskens, E. J. M., Schouten, E. G., Havekes, L. M., Seidell, J. C., Kastelein, J. J. P., Kromhout, D.
|
|
<strong>Physical activity modulates the effect of a lipoprotein lipase mutation (D9N) on plasma lipids and lipoproteins.</strong>
|
|
Clin. Genet. 56: 158-163, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10517255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10517255</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10517255" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1034/j.1399-0004.1999.560212.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Busca1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Busca, R., Martinez, M., Vilella, E., Pognonec, P., Deeb, S., Auwerx, J., Reina, M., Vilaro, S.
|
|
<strong>The mutation gly142-to-glu in human lipoprotein lipase produces a missorted protein that is diverted to lysosomes.</strong>
|
|
J. Biol. Chem. 271: 2139-2146, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8567671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8567671</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8567671" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1074/jbc.271.4.2139" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Chen2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chen, Y., Zhu, J., Lum, P. Y., Yang, X., Pinto, S., MacNeil, D. J., Zhang, C., Lamb, J., Edwards, S., Sieberts, S. K., Leonardson, A., Castellini, L. W., and 10 others.
|
|
<strong>Variations in DNA elucidate molecular networks that cause disease.</strong>
|
|
Nature 452: 429-435, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18344982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18344982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18344982[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18344982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nature06757" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Chimienti1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chimienti, G., Capurso, A., Resta, F., Pepe, G.
|
|
<strong>A G-to-C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a Southern-Italian family.</strong>
|
|
Biochem. Biophys. Res. Commun. 187: 620-627, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1530621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1530621</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1530621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0006-291x(92)91240-q" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Clark1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Clark, A. G., Weiss, K. M., Nickerson, D. A., Taylor, S. L., Buchanan, A., Stengard, J., Salomaa, V., Vartiainen, E., Perola, M., Boerwinkle, E., Sing, C. F.
|
|
<strong>Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase.</strong>
|
|
Am. J. Hum. Genet. 63: 595-612, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683608</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9683608" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/301977" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Clee2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Clee, S. M., Loubser, O., Collins, J., Kastelein, J. J. P., Hayden, M. R.
|
|
<strong>The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides, and reduced risk of coronary artery disease.</strong>
|
|
Clin. Genet. 60: 293-300, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11683775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11683775</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11683775" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1034/j.1399-0004.2001.600407.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Davies2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Davies, B. S. J., Goulbourne, C. N., Barnes, R. H., II, Turlo, K. A., Gin, P., Vaughan, S., Vaux, D. J., Bensadoun, A., Beigneux, A. P., Fong, L. G., Young, S. G.
|
|
<strong>Assessing mechanisms of GPIHBP1 and lipoprotein lipase movement across endothelial cells.</strong>
|
|
J. Lipid Res. 53: 2690-2697, 2012.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23008484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23008484</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23008484[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23008484" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1194/jlr.M031559" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="De Braekeleer1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
De Braekeleer, M., Dionne, C., Gagne, C., Julien, P., Brun, D., Ven Murthy, M. R., Lupien, P.-J.
|
|
<strong>Founder effect in familial hyperchylomicronemia among French Canadians of Quebec.</strong>
|
|
Hum. Hered. 41: 168-173, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1937490/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1937490</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1937490" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1159/000153996" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="De Bruin1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
De Bruin, T. W. A., Mailly, F., Van Barlingen, H. H. J. J., Fisher, R., Castro Cabezas, M., Talmud, P., Dallinga-Thie, G. M., Humphries, S. E.
|
|
<strong>Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia.</strong>
|
|
Europ. J. Clin. Invest. 26: 631-639, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8872057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8872057</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8872057" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1365-2362.1996.tb02146.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Deeb1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Deeb, S. S., Peng, R.
|
|
<strong>Structure of the human lipoprotein lipase gene.</strong>
|
|
Biochemistry 28: 4131-4135, 1989. Note: Erratum: Biochemistry 28: 6786 only, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2765475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2765475</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2765475" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1021/bi00436a001" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Devlin1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Devlin, R. H., Deeb, S., Brunzell, J., Hayden, M. R.
|
|
<strong>Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency.</strong>
|
|
Am. J. Hum. Genet. 46: 112-119, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2294743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2294743</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2294743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Devlin1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Devlin, R., Henderson, H., Monsalve, V., Brunzell, J., Deeb, S., Hayden, M. R.
|
|
<strong>The molecular biology of hypertriglyceridemia: characterization of mutations in patients with lipoprotein lipase deficiency.(Abstract)</strong>
|
|
Am. J. Hum. Genet. 45 (suppl.): A4, 1989.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Dichek1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dichek, H. L., Fojo, S. S., Beg, O. U., Skarlatos, S. I., Brunzell, J. D., Cutler, G. B., Jr., Brewer, H. B., Jr.
|
|
<strong>Identification of 2 separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome.</strong>
|
|
J. Biol. Chem. 266: 473-477, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1702428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1702428</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1702428" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Emi1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Emi, M., Asaoka, H., Matsumoto, A., Itakura, H., Kurihara, Y., Wada, Y., Kanamori, H., Yazaki, Y., Takahashi, E., Lepert, M., Lalouel, J.-M., Kodama, T., Mukai, T.
|
|
<strong>Structure, organization, and chromosomal mapping of the human macrophage scavenger receptor gene.</strong>
|
|
J. Biol. Chem. 268: 2120-2125, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8093617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8093617</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8093617" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Emi1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Emi, M., Hata, A., Robertson, M., Iverius, P.-H., Hegele, R., Lalouel, J.-M.
|
|
<strong>Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene.</strong>
|
|
Am. J. Hum. Genet. 47: 107-111, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2349938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2349938</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2349938" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Emi1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Emi, M., Wilson, D. E., Iverius, P.-H., Wu, L., Hata, A., Hegele, R., Williams, R. R., Lalouel, J.-M.
|
|
<strong>Missense mutation (gly-to-glu188) of human lipoprotein lipase imparting functional deficiency.</strong>
|
|
J. Biol. Chem. 265: 5910-5916, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1969408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1969408</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1969408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Faustinella1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Faustinella, F., Chang, A., Van Biervliet, J. P., Rosseneu, M., Vinaimont, N., Smith, L. C., Chen, S.-H., Chan, L.
|
|
<strong>Catalytic triad residue mutation (asp156-to-gly) causing familial lipoprotein lipase deficiency: co-inheritance with a nonsense mutation (ser447-to-ter) in a Turkish family.</strong>
|
|
J. Biol. Chem. 266: 14418-14424, 1991. Note: Erratum: J. Biol. Chem. 267: 7194 only, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1907278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1907278</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1907278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Fisher1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fisher, R. M., Humphries, S. E., Talmud, P. J.
|
|
<strong>Common variation in the lipoprotein lipase gene: effects on plasma lipids and risk of atherosclerosis.</strong>
|
|
Atherosclerosis 135: 145-159, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9430364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9430364</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9430364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0021-9150(97)00199-8" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Frikke-Schmidt2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Frikke-Schmidt, R., Sing, C. F., Nordestgaard, B. G., Steffensen, R., Tybjaerg-Hansen, A.
|
|
<strong>Subsets of SNPs define rare genotype classes that predict ischemic heart disease.</strong>
|
|
Hum. Genet. 120: 865-877, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17006673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17006673</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17006673[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17006673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s00439-006-0233-y" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Funke1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Funke, H., Klug, J., Assmann, G.
|
|
<strong>Hind III RFLP in the lipoprotein lipase gene, (LPL).</strong>
|
|
Nucleic Acids Res. 15: 9102, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2891110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2891110</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2891110" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/nar/15.21.9102" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Funke1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Funke, H., Reckwerth, A., Stapenhorst, D., Schulze Beiering, M., Jansen, M., Assmann, G.
|
|
<strong>Bst NI (Eco RII) RFLP in the lipoprotein lipase gene (LPL).</strong>
|
|
Nucleic Acids Res. 16: 2741, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2896338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2896338</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2896338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/nar/16.6.2741" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Gagne1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gagne, C., Brun, L. D., Julien, P., Moorjani, S., Lupien, P. J.
|
|
<strong>Primary lipoprotein lipase activity deficiency: clinical investigation of a French Canadian population.</strong>
|
|
Canad. Med. Assoc. J. 140: 405-411, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2914262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2914262</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2914262" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Gilbert2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gilbert, B., Rouis, M., Griglio, S., de Lumley, L., Laplaud, P.-M.
|
|
<strong>Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation gly88-to-glu in the human LPL gene and review of reported mutations: 75% are clustered in exons 5 and 6.</strong>
|
|
Ann. Genet. 44: 25-32, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11334614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11334614</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11334614" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0003-3995(01)01037-1" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Ginzinger1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ginzinger, D. G., Lewis, M. E. S., Ma, Y., Jones, B. R., Liu, G., Jones, S. D., Hayden, M. R.
|
|
<strong>A mutation in the lipoprotein lipase gene is the molecular basis of chylomicronemia in a colony of domestic cats.</strong>
|
|
J. Clin. Invest. 97: 1257-1266, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8636438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8636438</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8636438" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI118541" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Goodarzi2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Goodarzi, M. O., Taylor, K. D., Guo, X., Hokanson, J. E., Haffner, S. M., Cui, J., Chen, Y.-D. I., Wagenknecht, L. E., Bergman, R. N., Rotter, J. I.
|
|
<strong>Haplotypes in the lipoprotein lipase gene influence fasting insulin and discovery of a new risk haplotype.</strong>
|
|
J. Clin. Endocr. Metab. 92: 293-296, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17032721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17032721</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17032721" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jc.2006-1195" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Goodarzi2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Goodarzi, M. O., Wong, H., Quinones, M. J., Taylor, K. D., Guo, X., Castellani, L. W., Antoine, H. J., Yang, H., Hsueh, W. A., Rotter, J. I.
|
|
<strong>The 3-prime untranslated region of the lipoprotein lipase gene: haplotype structure and association with post-heparin plasma lipase activity.</strong>
|
|
J. Clin. Endocr. Metab. 90: 4816-4823, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15928243/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15928243</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15928243" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jc.2005-0389" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Gotoda1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gotoda, T., Yamada, N., Kawamura, M., Kozaki, K., Mori, N., Ishibashi, S., Shimano, H., Takaku, F., Yazaki, Y., Furuichi, Y., Murase, T.
|
|
<strong>Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.</strong>
|
|
J. Clin. Invest. 88: 1856-1864, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1752947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1752947</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1752947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI115507" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="Gotoda1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gotoda, T., Yamada, N., Murase, T., Miyake, S., Murakami, R., Kawamura, M., Kozaki, K., Mori, N., Shimano, H., Shimada, M., Yazaki, Y.
|
|
<strong>A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency.</strong>
|
|
Biochim. Biophys. Acta 1138: 353-356, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1562620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1562620</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1562620" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0925-4439(92)90015-f" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="37" class="mim-anchor"></a>
|
|
<a id="Hata1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hata, A., Emi, M., Luc, G., Basdevant, A., Gambert, P., Iverius, P.-H., Lalouel, J.-M.
|
|
<strong>Compound heterozygote for lipoprotein lipase deficiency: ser-to-thr(244) and transition in 3-prime splice site of intron 2 (AG-to-AA) in the lipoprotein lipase gene.</strong>
|
|
Am. J. Hum. Genet. 47: 721-726, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2121025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2121025</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2121025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="38" class="mim-anchor"></a>
|
|
<a id="Hata1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hata, A., Ridinger, D. N., Sutherland, S. D., Emi, M., Kwong, L. K., Shuhua, J., Lubbers, A., Guy-Grand, B., Basdevant, A., Iverius, P. H., Wilson, D. E., Lalouel, J.-M.
|
|
<strong>Missense mutations in exon 5 of the human lipoprotein lipase gene: inactivation correlates with loss of dimerization.</strong>
|
|
J. Biol. Chem. 267: 20132-20139, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1400331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1400331</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1400331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="39" class="mim-anchor"></a>
|
|
<a id="Haubenwallner1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Haubenwallner, S., Horl, G., Shachter, N. S., Presta, E., Fried, S. K., Hofler, G., Kostner, G. M., Breslow, J. L., Zechner, R.
|
|
<strong>A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (asp180-to-glu) causes familial chylomicronemia (type I hyperlipoproteinemia).</strong>
|
|
Genomics 18: 392-396, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8288243/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8288243</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8288243" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/geno.1993.1481" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="40" class="mim-anchor"></a>
|
|
<a id="Heinzmann1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Heinzmann, C., Ladias, J., Antonarakis, S., Kirchgessner, T., Schotz, M., Lusis, A. J.
|
|
<strong>RFLP for the human lipoprotein lipase (LPL) gene: HindIII.</strong>
|
|
Nucleic Acids Res. 15: 6763, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2888089/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2888089</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2888089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/nar/15.16.6763" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="41" class="mim-anchor"></a>
|
|
<a id="Heizmann1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Heizmann, C., Kirchgessner, T., Kwiterovich, P. O., Ladias, J. A., Derby, C., Antonarakis, S. E., Lusis, A. J.
|
|
<strong>DNA polymorphism haplotypes of the human lipoprotein lipase gene: possible association with high density lipoprotein levels.</strong>
|
|
Hum. Genet. 86: 578-584, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1673959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1673959</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1673959" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00201544" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="42" class="mim-anchor"></a>
|
|
<a id="Henderson1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Henderson, H. E., Bijvoet, S. M., Mannens, M. A. M. M., Bruin, T., Erkelens, D. W., Hayden, M. R., Kastelein, J. J. P.
|
|
<strong>Ile225-to-thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event.</strong>
|
|
Am. J. Med. Genet. 78: 313-316, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9714430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9714430</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9714430" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(sici)1096-8628(19980724)78:4<313::aid-ajmg1>3.0.co;2-m" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="43" class="mim-anchor"></a>
|
|
<a id="Henderson1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Henderson, H. E., Hassan, F., Berger, G. M. B., Hayden, M. R.
|
|
<strong>The lipoprotein lipase gly188-to-glu mutation in South Africans of Indian descent: evidence suggesting common origins and an increased frequency.</strong>
|
|
J. Med. Genet. 29: 119-122, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1351946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1351946</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1351946" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.29.2.119" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="44" class="mim-anchor"></a>
|
|
<a id="Henderson1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Henderson, H. E., Hassan, F., Marais, D., Hayden, M. R.
|
|
<strong>A new mutation destroying disulphide bridging in the C-terminal domain of lipoprotein lipase.</strong>
|
|
Biochem. Biophys. Res. Commun. 227: 189-194, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8858123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8858123</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8858123" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/bbrc.1996.1487" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="45" class="mim-anchor"></a>
|
|
<a id="Henderson1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Henderson, H. E., Ma, Y., Hassan, M. F., Monsalve, M. V., Marais, A. D., Winkler, F., Gubernator, K., Peterson, J., Brunzell, J. D., Hayden, M. R.
|
|
<strong>Amino acid substitution (ile194-to-thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands: support for a multicentric origin.</strong>
|
|
J. Clin. Invest. 87: 2005-2011, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1674945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1674945</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1674945" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI115229" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="46" class="mim-anchor"></a>
|
|
<a id="Hoffmann2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hoffmann, M. M., Jacob, S., Luft, D., Schmulling, R.-M., Rett, K., Marz, W., Haring, H.-U., Matthaei, S.
|
|
<strong>Type I hyperlipoproteinemia due to a novel loss of function mutation of lipoprotein lipase, cys239-trp, associated with recurrent severe pancreatitis.</strong>
|
|
J. Clin. Endocr. Metab. 85: 4795-4798, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11134145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11134145</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11134145" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jcem.85.12.7069" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="47" class="mim-anchor"></a>
|
|
<a id="Ishimura-Oka1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ishimura-Oka, K., Faustinella, F., Kihara, S., Smith, L. C., Oka, K., Chan, L.
|
|
<strong>A missense mutation (trp86-to-arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia.</strong>
|
|
Am. J. Hum. Genet. 50: 1275-1280, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1598907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1598907</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1598907" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="48" class="mim-anchor"></a>
|
|
<a id="Kastelein1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kastelein, J. J. P., Groenemeyer, B. E., Hallman, D. M., Henderson, H., Reymer, P. W. A., Gagne, S. E., Jansen, H., Seidell, J. C., Kromhout, D., Jukema, J. W., Bruschke, A. V. G., Boerwinkle, E., Hayden, M. R., The Regress Study Group.
|
|
<strong>The asn9 variant of lipoprotein lipase is associated with the -93G promoter mutation and an increased risk of coronary artery disease.</strong>
|
|
Clin. Genet. 53: 27-33, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9550358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9550358</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9550358" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1034/j.1399-0004.1998.531530106.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="49" class="mim-anchor"></a>
|
|
<a id="Kathiresan2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kathiresan, S., Melander, O., Anevski, D., Guiducci, C., Burtt, N. P., Roos, C., Hirschhorn, J. N., Berglund, G., Hedblad, B., Groop, L., Altshuler, D. M., Newton-Cheh, C., Orho-Melander, M.
|
|
<strong>Polymorphisms associated with cholesterol and risk of cardiovascular events.</strong>
|
|
New Eng. J. Med. 358: 1240-1249, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18354102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18354102</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18354102" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJMoa0706728" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="50" class="mim-anchor"></a>
|
|
<a id="Kawashiri2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kawashiri, M., Higashikata, T., Mizuno, M., Takata, M., Katsuda, S., Miwa, K., Nozue, T., Nohara, A., Inazu, A., Kobayashi, J., Koizumi, J., Mabuchi, H.
|
|
<strong>Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL-Arita in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis.</strong>
|
|
J. Clin. Endocr. Metab. 90: 6541-6544, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16174715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16174715</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16174715" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jc.2005-1098" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="51" class="mim-anchor"></a>
|
|
<a id="Kim2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kim, M. S., Wang, F., Puthanveetil, P., Kewalramani, G., Hosseini-Beheshti, E., Ng, N., Wang, Y., Kumar, U., Innis, S., Proud, C. G., Abrahani, A., Rodrigues, B.
|
|
<strong>Protein kinase D is a key regulator of cardiomyocyte lipoprotein lipase secretion after diabetes.</strong>
|
|
Circ. Res. 103: 252-260, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18583709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18583709</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18583709" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1161/CIRCRESAHA.108.178681" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="52" class="mim-anchor"></a>
|
|
<a id="Kim2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kim, Y. J., Go, M. J., Hu, C., Hong, C. B., Kim, Y. K., Lee, J. Y., Hwang, J.-Y., Oh, J. H., Kim, D.-J., Kim, N. H., Kim, S., Hong, E. J., and 22 others.
|
|
<strong>Large-scale genome-wide association studies in east Asians identify new genetic loci influencing metabolic traits.</strong>
|
|
Nature Genet. 43: 990-995, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21909109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21909109</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21909109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng.939" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="53" class="mim-anchor"></a>
|
|
<a id="Kirchgessner1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kirchgessner, T. G., Chuat, J.-C., Heinzmann, C., Etienne, J., Guilhot, S., Svenson, K., Ameis, D., Pilon, C., d'Auriol, L., Andalibi, A., Schotz, M. C., Galibert, F., Lusis, A. J.
|
|
<strong>Organization of the human lipoprotein lipase gene and evolution of the lipase gene family.</strong>
|
|
Proc. Nat. Acad. Sci. 86: 9647-9651, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2602366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2602366</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2602366" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.86.24.9647" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="54" class="mim-anchor"></a>
|
|
<a id="Kirchgessner1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kirchgessner, T. G., Svenson, K. L., Lusis, A. J., Schotz, M. C.
|
|
<strong>The sequence of cDNA encoding lipoprotein lipase: a member of a lipase gene family.</strong>
|
|
J. Biol. Chem. 262: 8463-8466, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3597382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3597382</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3597382" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="55" class="mim-anchor"></a>
|
|
<a id="Kobayashi1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kobayashi, J., Nishida, T., Ameis, D., Stahnke, G., Schotz, M. C., Hashimoto, H., Fukamachi, I., Shirai, K., Saito, Y., Yoshida, S.
|
|
<strong>A heterozygous mutation (the codon for ser477 to a stop codon) in lipoprotein lipase contributes to a defect in lipid interface recognition in a case with type I hyperlipidemia.</strong>
|
|
Biochem. Biophys. Res. Commun. 182: 70-77, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1731801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1731801</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1731801" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0006-291x(05)80113-5" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="56" class="mim-anchor"></a>
|
|
<a id="Kobayashi1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kobayashi, J., Sasaki, N., Tashiro, J., Inadera, H., Saito, Y., Yoshida, S.
|
|
<strong>A missense mutation (ala334-to-thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia.</strong>
|
|
Biochem. Biophys. Res. Commun. 191: 1046-1054, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8096693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8096693</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8096693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/bbrc.1993.1323" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="57" class="mim-anchor"></a>
|
|
<a id="Langlois1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Langlois, S., Deeb, S., Brunzell, J. D., Kastelein, J. J., Hayden, M. R.
|
|
<strong>A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency.</strong>
|
|
Proc. Nat. Acad. Sci. 86: 948-952, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2536938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2536938</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2536938" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.86.3.948" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="58" class="mim-anchor"></a>
|
|
<a id="Langlois1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Langlois, S., Deeb, S., Brunzell, J., Kastelein, J. J., Hayden, M. R.
|
|
<strong>A unique insertion accounts for a significant proportion of the mutations in the lipoprotein lipase (LPL) gene.(Abstract)</strong>
|
|
Am. J. Hum. Genet. 43: A191, 1988.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="59" class="mim-anchor"></a>
|
|
<a id="Levak-Frank1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Levak-Frank, S., Radner, H., Walsh, A., Stollberger, R., Knipping, G., Hoefler, G., Sattler, W., Weinstock, P. H., Breslow, J. L., Zechner, R.
|
|
<strong>Muscle-specific overexpression of lipoprotein lipase causes a severe myopathy characterized by proliferation of mitochondria and peroxisomes in transgenic mice.</strong>
|
|
J. Clin. Invest. 96: 976-986, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7635990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7635990</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7635990" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI118145" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="60" class="mim-anchor"></a>
|
|
<a id="Li1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Li, S., Oka, K., Galton, D., Stocks, J.
|
|
<strong>Pvu-II RFLP at the human lipoprotein lipase (LPL) gene locus.</strong>
|
|
Nucleic Acids Res. 16: 2358, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2895912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2895912</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2895912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/nar/16.5.2358" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="61" class="mim-anchor"></a>
|
|
<a id="Ling2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ling, C., Svensson, L., Oden, B., Weijdegard, B., Eden, B., Eden, S., Billig, H.
|
|
<strong>Identification of functional prolactin (PRL) receptor gene expression: PRL inhibits lipoprotein lipase activity in human white adipose tissue.</strong>
|
|
J. Clin. Endocr. Metab. 88: 1804-1808, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12679477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12679477</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12679477" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jc.2002-021137" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="62" class="mim-anchor"></a>
|
|
<a id="Lo1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lo, J. Y., Smith, L. C., Chan, L.
|
|
<strong>Lipoprotein lipase: role of intramolecular disulfide bonds in enzyme catalysis.</strong>
|
|
Biochem. Biophys. Res. Commun. 206: 266-271, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7818530/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7818530</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7818530" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/bbrc.1995.1037" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="63" class="mim-anchor"></a>
|
|
<a id="Lopez-Miranda2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lopez-Miranda, J., Cruz, G., Gomez, P., Marin, C., Paz, E., Perez-Martinez, P., Fuentes, F. J., Ordovas, J. M., Perez-Jimenez, F.
|
|
<strong>The influence of lipoprotein lipase gene variation on postprandial lipoprotein metabolism.</strong>
|
|
J. Clin. Endocr. Metab. 89: 4721-4728, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15356086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15356086</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15356086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jc.2003-031642" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="64" class="mim-anchor"></a>
|
|
<a id="Ma1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ma, Y., Henderson, H. E., Ven Murthy, M. R., Roederer, G., Monsalve, M. V., Clarke, L. A., Normand, T., Julien, P., Gagne, C., Lambert, M., Davignon, J., Lupien, P. J., Brunzell, J., Hayden, M. R.
|
|
<strong>A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians.</strong>
|
|
New Eng. J. Med. 324: 1761-1766, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2038366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2038366</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2038366" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM199106203242502" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="65" class="mim-anchor"></a>
|
|
<a id="Ma1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ma, Y., Liu, M.-S., Chitayat, D., Bruin, T., Beisiegel, U., Benlian, P., Foubert, L., De Gennes, J. L., Funke, H., Forsythe, I., Blaichman, S., Papanikolaou, M., Erkelens, D. W., Kastelein, J., Brunzell, J. D., Hayden, M. R.
|
|
<strong>Recurrent missense mutations at the first and second base of codon arg243 in human lipoprotein lipase in patients of different ancestries.</strong>
|
|
Hum. Mutat. 3: 52-58, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7906986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7906986</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7906986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/humu.1380030109" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="66" class="mim-anchor"></a>
|
|
<a id="Ma1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ma, Y., Liu, M.-S., Ginzinger, D., Frohlich, J., Brunzell, J. D., Hayden, M. R.
|
|
<strong>Gene-environment interaction in the conversion of a mild-to-severe phenotype in a patient homozygous for a ser172-to-cys mutation in the lipoprotein lipase gene.</strong>
|
|
J. Clin. Invest. 91: 1953-1958, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8486765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8486765</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8486765" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI116414" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="67" class="mim-anchor"></a>
|
|
<a id="Ma1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ma, Y., Wilson, B. I., Bijvoet, S., Henderson, H. E., Cramb, E., Roederer, G., Ven Murthy, M. R., Julien, P., Bakker, H. D., Kastelein, J. J. P., Brunzell, J. D., Hayden, M. R.
|
|
<strong>A missense mutation (asp250-to-asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries.</strong>
|
|
Genomics 13: 649-653, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1639392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1639392</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1639392" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0888-7543(92)90136-g" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="68" class="mim-anchor"></a>
|
|
<a id="Mailly1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mailly, F., Palmen, J., Muller, D. P. R., Gibbs, T., Lloyd, J., Brunzell, J., Durrington, P., Mitropoulos, K., Betteridge, J., Watts, G., Lithell, H., Angelico, F., Humphries, S. E., Talmud, P. J.
|
|
<strong>Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy.</strong>
|
|
Hum. Mutat. 10: 465-473, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9401010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9401010</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9401010" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)10:6<465::AID-HUMU8>3.0.CO;2-C" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="69" class="mim-anchor"></a>
|
|
<a id="Mattei1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mattei, M. G., Etienne, J., Chuat, J. C., Nguyen, V. C., Brault, D., Bernheim, A., Galibert, F.
|
|
<strong>Assignment of the human lipoprotein lipase (LPL) gene to chromosome band 8p22.</strong>
|
|
Cytogenet. Cell Genet. 63: 45-46, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8449037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8449037</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8449037" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1159/000133499" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="70" class="mim-anchor"></a>
|
|
<a id="Miesenbock1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Miesenbock, G., Holzl, B., Foger, B., Brandstatter, E., Paulweber, B., Sandhofer, F., Patsch, J. R.
|
|
<strong>Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities.</strong>
|
|
J. Clin. Invest. 91: 448-455, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8432854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8432854</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8432854" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI116222" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="71" class="mim-anchor"></a>
|
|
<a id="Monsalve1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Monsalve, M. V., Henderson, H., Roederer, G., Julien, P., Deeb, S., Kastelein, J. J. P., Peritz, L., Devlin, R., Bruin, T., Murthy, M. R. V., Gagne, C., Davignon, J., Lupien, P. J., Brunzell, J. D., Hayden, M. R.
|
|
<strong>A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries.</strong>
|
|
J. Clin. Invest. 86: 728-734, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1975597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1975597</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1975597" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI114769" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="72" class="mim-anchor"></a>
|
|
<a id="Nevin1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nevin, D. N., Brunzell, J. D., Deeb, S. S.
|
|
<strong>The LPL gene in individuals with familial combined hyperlipidemia and decreased LPL activity.</strong>
|
|
Arterioscler. Thromb. 14: 869-873, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8199176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8199176</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8199176" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1161/01.atv.14.6.869" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="73" class="mim-anchor"></a>
|
|
<a id="Nickerson1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nickerson, D. A., Taylor, S. L., Weiss, K. M., Clark, A. G., Hutchinson, R. G., Stengard, J., Salomaa, V., Vartiainen, E., Boerwinkle, E., Sing, C. F.
|
|
<strong>DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene.</strong>
|
|
Nature Genet. 19: 233-240, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662394</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9662394" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/907" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="74" class="mim-anchor"></a>
|
|
<a id="Normand1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Normand, T., Bergeron, J., Fernandez-Margallo, T., Bharucha, A., Ven Murthy, M. R., Julien, P., Gagne, C., Dionne, C., De Braekeleer, M., Ma, R., Hayden, M. R., Lupien, P. J.
|
|
<strong>Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Quebec.</strong>
|
|
Hum. Genet. 89: 671-675, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1511985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1511985</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1511985" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00221960" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="75" class="mim-anchor"></a>
|
|
<a id="Paulweber1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Paulweber, B., Wiebusch, H., Miesenboeck, G., Funke, H., Assmann, G., Hoelzl, B., Sippl, M. J., Friedl, W., Patsch, J. R., Sandhofer, F.
|
|
<strong>Molecular basis of lipoprotein lipase deficiency in two Austrian families with type I hyperlipoproteinemia.</strong>
|
|
Atherosclerosis 86: 239-250, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1872917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1872917</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1872917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0021-9150(91)90220-w" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="76" class="mim-anchor"></a>
|
|
<a id="Pepe1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pepe, G., Chimienti, G., Resta, F., Di Perna, V., Tarricone, C., Lovecchio, M., Colacicco, A. M., Capurso, A.
|
|
<strong>A new Italian case of lipoprotein lipase deficiency: a leu365-to-val change resulting in loss of enzyme activity.</strong>
|
|
Biochem. Biophys. Res. Commun. 199: 570-576, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8135797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8135797</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8135797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/bbrc.1994.1266" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="77" class="mim-anchor"></a>
|
|
<a id="Pruneta-Deloche2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pruneta-Deloche, V., Marcais, C., Perrot, L., Sassolas, A., Delay, M., Estour, B., Lagarde, M., Moulin, P.
|
|
<strong>Combination of circulating antilipoprotein lipase (anti-LPL) antibody and heterozygous S172fsX179 mutation of LPL gene leading to chronic hyperchylomicronemia.</strong>
|
|
J. Clin. Endocr. Metab. 90: 3995-3998, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15840743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15840743</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15840743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jc.2005-0205" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="78" class="mim-anchor"></a>
|
|
<a id="Reymer1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Reymer, P. W. A., Groenemeyer, B. E., Gagne, E., Miao, L., Appelman, E. E. G., Seidel, J. C., Kromhout, D., Bijvoet, S. M., van de Oever, K., Bruin, T., Hayden, M. R., Kastelein, J. J. P.
|
|
<strong>A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia.</strong>
|
|
Hum. Molec. Genet. 4: 1543-1549, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541837</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8541837" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/4.9.1543" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="79" class="mim-anchor"></a>
|
|
<a id="Richardson2013" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Richardson, K., Nettleton, J. A., Rotllan, N., Tanaka, T., Smith, C. E., Lai, C.-Q., Parnell, L. D., Lee, Y.-C., Lahti, J., Lemaitre, R. N., Manichaikul, A., Keller, M., and 34 others.
|
|
<strong>Gain-of-function lipoprotein lipase variant {dbSNP rs13702} modulates lipid traits through disruption of a microRNA-410 seed site.</strong>
|
|
Am. J. Hum. Genet. 92: 5-14, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23246289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23246289</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23246289[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23246289" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ajhg.2012.10.020" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="80" class="mim-anchor"></a>
|
|
<a id="Samuels2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Samuels, M. E., Forbey, K. C., Reid, J. E., Abkevich, V., Bulka, K., Wardell, B. R., Bowen, B. R., Hopkins, P. N., Hunt, S. C., Ballinger, D. G., Skolnick, M. H., Wagner, S.
|
|
<strong>Identification of a common variant in the lipoprotein lipase gene in a large Utah kindred ascertained for coronary heart disease: the -93G/D9N variant predisposes to low HDL-C/high triglycerides.</strong>
|
|
Clin. Genet. 59: 88-98, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11260209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11260209</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11260209" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1034/j.1399-0004.2001.590205.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="81" class="mim-anchor"></a>
|
|
<a id="Sparkes1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sparkes, R. S., Zollman, S., Klisak, I., Kirchgessner, T. G., Komaromy, M. C., Mohandas, T., Schotz, M. C., Lusis, A. J.
|
|
<strong>Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21.</strong>
|
|
Genomics 1: 138-144, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3692485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3692485</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3692485" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0888-7543(87)90005-x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="82" class="mim-anchor"></a>
|
|
<a id="Spirin2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Spirin, V., Schmidt, S., Pertsemlidis, A., Cooper, R. S., Cohen, J. C., Sunyaev, S. R.
|
|
<strong>Common single-nucleotide polymorphisms act in concert to affect plasma levels of high-density lipoprotein cholesterol.</strong>
|
|
Am. J. Hum. Genet. 81: 1298-1303, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17952847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17952847</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17952847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/522497" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="83" class="mim-anchor"></a>
|
|
<a id="Sprecher1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sprecher, D. L., Kobayashi, J., Rymaszewski, M., Goldberg, I. J., Harris, B. V., Bellet, P. S., Ameis, D., Yunker, R. L., Black, D. M., Stein, E. A., Schotz, M. C., Wiginton, D. A.
|
|
<strong>Trp64-to-nonsense mutation in the lipoprotein lipase gene.</strong>
|
|
J. Lipid Res. 33: 859-866, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1512512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1512512</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1512512" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="84" class="mim-anchor"></a>
|
|
<a id="Takagi1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Takagi, A., Ikeda, Y., Tsutsumi, Z., Shoji, T., Yamamoto, A.
|
|
<strong>Molecular studies on primary lipoprotein lipase (LPL) deficiency: one base deletion (G-916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript.</strong>
|
|
J. Clin. Invest. 89: 581-591, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1737848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1737848</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1737848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI115624" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="85" class="mim-anchor"></a>
|
|
<a id="Weinstock1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Weinstock, P. H., Bisgaier, C. L., Aalto-Setala, K., Radner, H., Ramakrishnan, R., Levak-Frank, S., Essenburg, A. D., Zechner, R., Breslow, J. L.
|
|
<strong>Severe hypertriglyceridemia, reduced high density lipoprotein, and neonatal death in lipoprotein lipase knockout mice: mild hypertriglyceridemia with impaired very low density lipoprotein clearance in heterozygotes.</strong>
|
|
J. Clin. Invest. 96: 2555-2568, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8675619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8675619</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8675619" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI118319" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="86" class="mim-anchor"></a>
|
|
<a id="Wilson1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wilson, D. E., Edwards, C. Q., Chan, I.-F.
|
|
<strong>Phenotypic heterogeneity in the extended pedigree of a proband with lipoprotein lipase deficiency.</strong>
|
|
Metabolism 32: 1107-1114, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6645961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6645961</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6645961" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0026-0495(83)90056-2" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="87" class="mim-anchor"></a>
|
|
<a id="Wilson1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wilson, D. E., Emi, M., Iverius, P.-H., Hata, A., Wu, L. L., Hillas, E., Williams, R. R., Lalouel, J.-M.
|
|
<strong>Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation.</strong>
|
|
J. Clin. Invest. 86: 735-750, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2394828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2394828</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2394828" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI114770" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="88" class="mim-anchor"></a>
|
|
<a id="Wilson1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wilson, D. E., Hata, A., Kwong, L. K., Lingam, A., Shuhua, J., Ridinger, D. N., Yeager, C., Kaltenborn, K. C., Iverius, P.-H., Lalouel, J.-M.
|
|
<strong>Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes.</strong>
|
|
J. Clin. Invest. 92: 203-211, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8325986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8325986</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8325986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI116551" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="89" class="mim-anchor"></a>
|
|
<a id="Wion1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wion, K. L., Kirchgessner, T. G., Lusis, A. J., Schotz, M. C., Lawn, R. M.
|
|
<strong>Human lipoprotein lipase complementary DNA sequence.</strong>
|
|
Science 235: 1638-1641, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3823907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3823907</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3823907" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.3823907" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="90" class="mim-anchor"></a>
|
|
<a id="Wittrup2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wittrup, H. H., Andersen, R. V., Tybjaerg-Hansen, A., Jensen, G. B., Nordestgaard, B. G.
|
|
<strong>Combined analysis of six lipoprotein lipase genetic variants on triglycerides, high-density lipoprotein, and ischemic heart disease: cross-sectional, prospective, and case-control studies from the Copenhagen City Heart Study.</strong>
|
|
J. Clin. Endocr. Metab. 91: 1438-1445, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16418216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16418216</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16418216" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jc.2005-1725" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="91" class="mim-anchor"></a>
|
|
<a id="Wittrup1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wittrup, H. H., Tybjaerg-Hansen, A., Abildgaard, S., Steffensen, R., Schnohr, P., Nordestgaard, B. G.
|
|
<strong>A common substitution (asn291ser) in lipoprotein lipase is associated with increased risk of ischemic heart disease.</strong>
|
|
J. Clin. Invest. 99: 1606-1613, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9120004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9120004</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9120004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI119323" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="92" class="mim-anchor"></a>
|
|
<a id="Wittrup1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wittrup, H. H., Tybjaerg-Hansen, A., Steffensen, R., Deeb, S. S., Brunzell, J. D., Jensen, G., Nordestgaard, B. G.
|
|
<strong>Mutations in the lipoprotein lipase gene associated with ischemic heart disease in men: the Copenhagen City Heart Study.</strong>
|
|
Arterioscler. Thromb. Vasc. Biol. 19: 1535-1540, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364086</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10364086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1161/01.atv.19.6.1535" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="93" class="mim-anchor"></a>
|
|
<a id="Wood1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wood, S., Schertzer, M., Hayden, M., Ma, Y.
|
|
<strong>Support for founder effect for two lipoprotein lipase (LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene.</strong>
|
|
Hum. Genet. 91: 312-316, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8099055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8099055</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8099055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00217348" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="94" class="mim-anchor"></a>
|
|
<a id="Yagyu2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yagyu, H., Chen, G., Yokoyama, M., Hirata, K., Augustus, A., Kako, Y., Seo, T., Hu, Y., Lutz, E. P., Merkel, M., Bensadoun, A., Homma, S., Goldberg, I. J.
|
|
<strong>Lipoprotein lipase (LpL) on the surface of cardiomyocytes increases lipid uptake and produces a cardiomyopathy.</strong>
|
|
J. Clin. Invest. 111: 419-426, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12569168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12569168</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12569168[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12569168" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI16751" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="95" class="mim-anchor"></a>
|
|
<a id="Yang2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yang, W., Huang, J., Ge, D., Yao, C., Duan, X., Shen, Y., Qiang, B., Gu, D.
|
|
<strong>Lipoprotein lipase gene is in linkage with blood pressure phenotypes in Chinese pedigrees.</strong>
|
|
Hum. Genet. 115: 8-12, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15127290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15127290</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15127290" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s00439-004-1108-8" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="96" class="mim-anchor"></a>
|
|
<a id="Yang1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yang, W.-S., Nevin, D. N., Peng, R., Brunzell, J. D., Deeb, S. S.
|
|
<strong>A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity.</strong>
|
|
Proc. Nat. Acad. Sci. 92: 4462-4466, 1995. Note: Erratum: Proc. Nat. Acad. Sci. 93: 524 only, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7753827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7753827</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7753827" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.92.10.4462" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="97" class="mim-anchor"></a>
|
|
<a id="Zhao2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Zhao, T., Guo, J., Li, H., Huang, W., Xian, X., Ross, C. J. D., Hayden, M. R., Wen, Z., Liu, G.
|
|
<strong>Hemorheological abnormalities in lipoprotein lipase deficient mice with severe hypertriglyceridemia.</strong>
|
|
Biochem. Biophys. Res. Commun. 341: 1066-1071, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16460682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16460682</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16460682" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.bbrc.2006.01.067" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="contributors" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="mim-text-font">
|
|
<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Patricia A. Hartz - updated : 1/31/2014
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseContributors">
|
|
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Ada Hamosh - updated : 2/25/2013<br>Ada Hamosh - updated : 6/26/2012<br>Ada Hamosh - updated : 1/21/2010<br>Patricia A. Hartz - updated : 8/31/2009<br>Marla J. F. O'Neill - updated : 2/12/2009<br>Ada Hamosh - updated : 5/23/2008<br>Ada Hamosh - updated : 4/1/2008<br>John A. Phillips, III - updated : 12/17/2007<br>Victor A. McKusick - updated : 11/28/2007<br>Victor A. McKusick - updated : 9/18/2007<br>John A. Phillips, III - updated : 5/22/2007<br>John A. Phillips, III - updated : 5/15/2007<br>John A. Phillips, III - updated : 3/19/2007<br>Marla J. F. O'Neill - updated : 11/30/2006<br>John A. Phillips, III - updated : 10/19/2006<br>Marla J. F. O'Neill - updated : 9/8/2006
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="creationDate" class="mim-anchor"></a>
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Anne M. Stumpf : 11/14/2005
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="editHistory" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 01/07/2025
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
|
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 09/25/2022<br>carol : 06/04/2019<br>carol : 05/30/2019<br>carol : 05/15/2019<br>carol : 05/14/2019<br>carol : 06/29/2018<br>alopez : 12/11/2017<br>carol : 06/13/2016<br>alopez : 2/24/2015<br>carol : 2/19/2014<br>mgross : 1/31/2014<br>mgross : 1/31/2014<br>alopez : 2/26/2013<br>terry : 2/25/2013<br>terry : 8/17/2012<br>terry : 7/6/2012<br>alopez : 6/27/2012<br>terry : 6/26/2012<br>carol : 5/16/2012<br>terry : 10/26/2011<br>alopez : 5/20/2011<br>joanna : 4/27/2010<br>alopez : 1/21/2010<br>alopez : 1/21/2010<br>mgross : 9/4/2009<br>terry : 8/31/2009<br>carol : 4/21/2009<br>carol : 2/13/2009<br>carol : 2/12/2009<br>alopez : 5/28/2008<br>terry : 5/23/2008<br>carol : 4/1/2008<br>carol : 12/17/2007<br>alopez : 12/13/2007<br>terry : 11/28/2007<br>alopez : 11/12/2007<br>alopez : 9/20/2007<br>terry : 9/18/2007<br>alopez : 5/22/2007<br>alopez : 5/15/2007<br>carol : 3/19/2007<br>carol : 11/30/2006<br>alopez : 10/19/2006<br>wwang : 9/12/2006<br>terry : 9/8/2006<br>alopez : 11/15/2005<br>alopez : 11/15/2005<br>alopez : 11/14/2005
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="container visible-print-block">
|
|
|
|
<div class="row">
|
|
|
|
|
|
|
|
<div class="col-md-8 col-md-offset-1">
|
|
|
|
<div>
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
<strong>*</strong> 609708
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
LIPOPROTEIN LIPASE; LPL
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: LPL</em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 267435002, 275598004, 403827000;
|
|
|
|
|
|
<strong>ICD10CM:</strong> E78.3;
|
|
|
|
|
|
<strong>ICD9CM:</strong> 272.3;
|
|
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 8p21.3
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 8:19,939,253-19,967,259 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
8p21.3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
[High density lipoprotein cholesterol level QTL 11]
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
238600
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Combined hyperlipidemia, familial
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
144250
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Lipoprotein lipase deficiency
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
238600
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Lipoprotein lipase has been difficult to purify, and its protein sequence remained undetermined until it could be deduced from the nucleotide sequence of its cDNA. Wion et al. (1987) elucidated the cDNA sequence of human LPL. The gene encodes a protein of 475 amino acids that becomes a mature protein of 448 residues after cleavage of a signal peptide. Analysis of the sequence indicated that human lipoprotein lipase, hepatic lipase (151670), and pancreatic lipase (246600) are members of a gene family. Kirchgessner et al. (1987) isolated and sequenced cDNA for lipoprotein lipase. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Deeb and Peng (1989) found that the LPL gene contains 10 exons spanning 30 kb; the last exon encodes the long (1,948-bp) untranslated 3-prime end of 2 mRNA species, of about 3.35 and 3.75 kb, that result from alternative use of 2 polyadenylation signals (Wion et al., 1987). </p><p>Kirchgessner et al. (1989) demonstrated that the first exon encodes the 5-prime untranslated region, the signal peptide, and the first 2 amino acids of the mature protein. The next 8 exons encode the remaining 446 amino acids, and the tenth exon encodes the long 3-prime untranslated region of 1,948 nucleotides. </p><p>Monsalve et al. (1990) stated that the LPL gene contains 10 exons spanning about 30 kb, with exon 10 specifying the entire 3-prime untranslated sequence (Deeb and Peng, 1989). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Sparkes et al. (1987) used a cDNA probe for lipoprotein lipase to map the LPL gene to 8p22 by Southern blot analysis of somatic cell hybrids and by in situ hybridization. Mattei et al. (1993) likewise used in situ hybridization to map the LPL gene to 8p22. Linkage studies by Emi et al. (1993) indicated that the LPL gene is located about 11 cM proximal to the MSR1 locus (153622), which is also located in the 8p22 band. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Ling et al. (2003) demonstrated that PRL (176760) directly affects and inhibits the LPL activity in human adipose tissue via functional PRL receptors (176761), suggesting an important role for PRL in regulating adipose tissue metabolism during lactation. </p><p>Lipoprotein lipase contains 4 disulfide bridges, 3 of which stabilize the folding of the N-terminal section, with the fourth being in the smaller C-terminal domain. Lo et al. (1995) examined the role of disulfide bridging in the functional stability of LPL in vitro by generating variants with individually substituted cysteine pairs. While disulfide bridging in the N-terminal domain was found to be critical for catalytic function, substitution of the C-terminal disulfide seemed to have minimal effect on lipolytic activity, suggesting to the authors that the 2 domains can function independently in enzyme catalysis. </p><p>The diabetic heart switches to exclusively using fatty acid for energy and does so by multiple mechanisms including hydrolysis of lipoproteins by LPL positioned at the vascular lumen. Using a rat model of diabetes, Kim et al. (2008) showed that the increase in Lpl paralleled phosphorylation of Hsp25 (HSPB1; 602195), decreasing its association with protein kinase C (PKC)-delta (PRKCD; 176977) and allowing PKC-delta to activate protein kinase D (PKD, or PRKD1; 605435), which regulates fission of vesicles from the Golgi membrane. Incubating control rat myocytes with high glucose and palmitic acid also increased phosphorylation of Hsp25, PKC-delta, and PKD and induced LPL activity in a pattern similar to that seen with diabetes. Kim et al. (2008) concluded that, in diabetes, PKD control of LPL requires dissociation of HSP25 from PKC-delta, association between PKC-delta and PKD, and vesicle fission. </p><p>Dietary fats are packaged by intestine into triglyceride-rich lipoproteins called chylomicrons. The triglycerides in chylomicrons are hydrolyzed by LPL along the luminal surface of capillaries, mainly in heart, skeletal muscle, and adipose tissue. Beigneux et al. (2007) showed that transfection of mouse Gpihbp1 (612757) in CHO cells conferred the ability to bind LPL and chylomicrons. Binding of LPL to Gpihbp1 was eliminated by heparin, which releases LPL from endothelial cells, and cell surface Gpihbp1 was released by phospholipase C (see PLCG1; 172420). </p><p>Using cells grown on transwells, Davies et al. (2012) found that mouse Gpihbp1 could transport human LPL across rat heart endothelial cells in either the basolateral-to-apical direction or the apical-to-basolateral direction. Electron microscopy of rat and mouse cells revealed localization of Gpihbp1 and LPL in invaginations of the plasma membrane and in cytoplasmic vesicles. Inhibition of vesicular transport inhibited LPL internalization, whereas LPL internalization remained intact in mouse endothelial cells lacking caveolin-1 (CAV1; 601047). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Funke et al. (1987, 1988), Heinzmann et al. (1987), and Li et al. (1988) identified RFLPs related to the LPL gene. </p><p>Henderson et al. (1991) identified the gene mutation in 116 of 150 mutant alleles in 75 separate probands with documented LPL deficiency (238600). </p><p>Although heterozygotes do not usually display the gross phenotypic features of lipoprotein lipase deficiency such as chylomicronemia, xanthomata, or episodes of abdominal pain, they have only half-normal LPL activity, which might not suffice to keep the plasma triglyceride concentration within normal limits when stress is placed on the plasma lipid transport system. Wilson et al. (1990) found that heterozygotes for a gly188-to-glu mutation (609708.0002) in the LPL gene were prone to moderate fasting hypertriglyceridemia if secondary factors such as obesity, hyperinsulinemia, or use of lipid-raising drugs were superimposed on the genetic defect. In members of 2 Austrian families with the same missense mutation at codon 188, Miesenbock et al. (1993) found that, even in the absence of such secondary factors, a trivial challenge like postprandial lipemia can uncover heterozygous carriage of a defective LPL gene. They referred to the metabolic handicap as 'impaired TG tolerance.' </p><p>Heizmann et al. (1991) studied DNA polymorphism haplotypes and found possibly significant associations between them and levels of high density lipoprotein (HDL) cholesterol and total plasma cholesterol. In contrast to a previous report, they found no significant associations with levels of plasma triglycerides. </p><p>Benlian et al. (1996) reported a female patient with familial chylomicronemia resulting from complete LPL deficiency due to homozygosity for a frameshift mutation in exon 2 of the LPL gene. The child had normal development. The father was a heterozygous carrier of the mutation, and no gene mutation was detected in the mother. The proband was homozygous for 17 informative markers spanning both arms of chromosome 8 and specifically for the haplotype containing the paternally derived LPL gene. This showed that homozygosity for the defective mutation resulted from a complete paternal isodisomy for chromosome 8. Benlian et al. (1996) noted also that this was the first report of uniparental disomy unmasked by LPL deficiency and that the case described by them indicated that normal development can occur with 2 paternally derived copies of chromosome 8. </p><p>Benlian et al. (1996) described 4 patients (2 men and 2 women) with missense mutations that profoundly impaired lipolysis but preserved the mass of lipoprotein lipase. In the 4, there were signs and symptoms of atherosclerosis before the age of 55. One of the patients was a 54-year-old female who since childhood had had episodes of abdominal pain induced by high intake of fat. She was a compound heterozygote for 2 known mutations: gly188 to glu (609708.0002) and arg243 to cys (609708.0031). The authors commented that lipoprotein lipase deficiency did not provide complete protection against atherosclerosis, as had been stated by others. </p><p>Wittrup et al. (1997) tested 9,214 men and women from a general population sample and 948 patients with ischemic heart disease (IHD) for the asn291-to-ser substitution (609708.0033) in lipoprotein lipase. The allele frequency in the general population was 0.024 and 0.026 for women and men, respectively. In comparison with noncarriers, female heterozygous probands had increased plasma triglycerides, while HDL cholesterol was reduced in both female and male carriers. A similar phenotype was found in 6 homozygous carriers. On multiple logistic regression analysis, plasma triglycerides and HDL cholesterol were independent predictors of IHD in both genders. On univariate analysis, odds ratios for IHD in probands were 1.89 in women and 0.90 in men, and on multivariate analysis were 1.98 in women and 1.02 in men. This study demonstrated that a single common mutation in the LPL gene is associated with elevated plasma triglycerides and reduced HDL cholesterol levels, whereby carriers, in particular women, seem to be predisposed to IHD. </p><p>Mailly et al. (1997) cataloged the LPL gene mutations identified in 20 unrelated patients from the UK, Sweden, and Italy. Mailly et al. (1997) identified the mutation in 29 of 40 (72.5%) alleles. The gly188-to-glu mutation (609708.0002) described by Monsalve et al. (1990) was found in 7 individuals (12 of 40 alleles). In addition, 3 patients were heterozygous for the 2-kb insertion described by Langlois et al. (1989). </p><p>Nickerson et al. (1998) reported the complete sequence of a fraction of the LPL gene in 71 individuals (142 chromosomes) from 3 populations that may have different histories affecting the organization of the sequence variation. They found that 88 sites in this 9.7 kb varied among individuals from these 3 populations. Of these, 79 were single-nucleotide polymorphisms (SNPs) and 9 sites involved insertion-deletion variations. The average nucleotide diversity across the region was 0.2% (or on average 1 variable site every 500 bp). At 34 of these sites the variation was found in only 1 of the populations, reflecting the different population and mutational histories. If LPL is a typical human gene, the pattern of sequence variation that exists in introns as well as exons, even for the smaller number of samples considered here, will present challenges for the identification of sites, or combinations of sites, that influence variation in risk of disease in the population at large. LPL had been chosen for study because it is a candidate susceptibility gene for cardiovascular disease. </p><p>In a patient with type I hyperlipoproteinemia (238600) suffering from recurrent severe pancreatitis, Hoffmann et al. (2000) found a cys239-to-trp mutation in exon 6 of the LPL gene (609708.0040). The mutation prevents the formation of the second disulfide bridge of LPL, which is an essential part of the lid covering the catalytic center. </p><p>Clee et al. (2001) stated that 3 common SNPs had been identified in the coding region of the LPL gene that are associated with small changes in enzyme function and affect plasma high density lipoprotein cholesterol (HDL-C) and triglyceride (TG) levels and the severity of coronary artery disease. The N291S (609708.0033) and D9N (609708.0035) substitutions have carrier frequencies of approximately 2 to 5% and 1 to 4% in populations of European descent, respectively. These variants have been reported in association with hyperlipidemia, specifically, increased TG and decreased HDL-C. In many studies, carriers of these variants have been found to have an increased risk of coronary artery disease and an increased risk of cerebrovascular disease. The third common variant of LPL, S447X (609708.0014), results in the generation of a premature stop codon, truncating the last 2 amino acids of the mature LPL protein. This variant has been reported at carrier frequencies of approximately 10 to 25% (Fisher et al., 1997), with even higher frequencies in some populations. Clee et al. (2001) reported that carriers of the S447X variant had decreased TG and a trend toward decreased vascular disease compared to noncarriers. Also, carriers of this SNP had decreased diastolic blood pressure compared to noncarriers, evident in both men and women, youths and adults, with similar trends for systolic blood pressure. Furthermore, the decrease in blood pressure appeared to be independent of the decrease in TG, suggesting that the LPL protein may have a direct influence on the vascular wall. </p><p>Gilbert et al. (2001) found reports of 221 mutations involved in familial LPL deficiency. The G188E mutation in exon 5 (609708.0002) was found in 23.5% of cases and 74.6% of the mutations were clustered in exons 5 and 6. Based on these observations, Gilbert et al. (2001) proposed a method of screening for mutations in this gene. </p><p>Yang et al. (2004) tested the relationship between polymorphisms in the LPL gene region and essential hypertension (145500) in 148 Chinese hypertensive families, using variance component and sib-pair linkage models. Linkage evidence with systolic blood pressure and diastolic blood pressure was observed with 7 flanking microsatellite markers of the LPL gene, with a maximum 2-point LOD score of 2.68 and a maximum multipoint LOD score (MLS) of 2.37 for systolic blood pressure and a maximum MLS of 1.54 for diastolic blood pressure. </p><p>Lopez-Miranda et al. (2004) evaluated whether the association of LPL HindIII (H1/H2) and S447X (609708.0014) polymorphisms may explain the variability observed during postprandial lipemia. Fifty-one healthy male volunteers (26 with the H2S447 genotype, 15 with the H1X447 genotype, and 10 with the H1S447 genotype) were subjected to a vitamin A-fat load test of 1 gram of fat per kg of body weight and 60,000 IU vitamin A. Carriers of the H1 allele presented a lower postprandial lipemic response than subjects with the homozygous H2S447 genotype. There was a delayed postprandial clearance of triacylglycerol-rich lipoproteins of intestinal origin in subjects with the H2S447 genotype compared with H1X447 subjects. Lopez-Miranda et al. (2004) concluded that the modifications observed in postprandial lipoprotein metabolism in young normolipemic males with LPL polymorphism could be involved in the lower risk of coronary artery disease associated with the H1X447 genotype. </p><p>Goodarzi et al. (2005) sequenced exon 10 of the LPL gene and identified 15 variants. Thirteen of these variants were genotyped in large-scale along with the 6 SNPs spanning intron 7 to intron 9. LPL haplotypes and their relative frequencies in Mexican-Americans were determined. The fourth most common haplotype based on 19 SNPs (haplotype 19-4) was associated with increased LPL activity as well as multiple phenotypes related to the metabolic syndrome. The authors concluded that these results supported the possibility that variation in the 3-prime untranslated region of LPL affects LPL expression and activity, consequently influencing risk of atherosclerosis and insulin resistance, and provides important tools for further dissection of LPL regulation. </p><p>Goodarzi et al. (2007) replicated LPL haplotype association with insulin sensitivity/resistance. The haplotype structure was identical with that observed in prior studies. Among 978 phenotyped subjects, haplotype 1 was associated with decreased fasting insulin (p = 0.01), and haplotype 4 was associated with increased fasting insulin (p = 0.02) and increased visceral fat mass (p = 0.002). They concluded that this study independently replicates their prior results of LPL haplotypes 1 and 4 as associated with measures of insulin sensitivity and resistance, respectively. </p><p>Wittrup et al. (2006) studied the effects of 6 common genetic variants in LPL on triglycerides, HDL cholesterol, and risk of ischemic heart disease (IHD). The study used 3 different designs, cross-sectional, prospective, and case-control, and involved members of the Danish general population participating in the Copenhagen City Heart Study. Genetic variation in LDL was associated with differences in plasma triglycerides greater than 1 mmol/liter and differences in HDL cholesterol greater than 0.5 mmol/liter. When analyzed prospectively, heterozygotes and homozygotes who carried both asp9-to-asn (609708.0035) and -93G (609708.0038) had a 1.6-fold risk of IHD compared with noncarriers. The combination of asn9 and -93G heterozygosity or homozygosity with apolipoprotein E (107741) epsilon-32 or epsilon-43 genotypes conferred 2.5-fold IHD risk. </p><p>Frikke-Schmidt et al. (2007) presented evidence that combinations of SNPs in APOE (107741) and LPL identify subgroups of individuals at substantially increased risk of ischemic heart disease beyond that associated with smoking, diabetes, and hypertension. </p><p><strong><em>High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 11</em></strong></p><p>
|
|
In an evaluation of the hypothesis that multiple HDL cholesterol levels reflect the cumulative contributions of multiple common DNA sequence variants, each of which has a small effect, Spirin et al. (2007) identified a single-nucleotide polymorphism (SNP) of the LPL gene (118470.0042) that acts in concert with other SNPs in the PLTP (172425.0001) and CETP (118470.0005) genes to affect plasma levels of HDL cholesterol (see HDLCQ11, 238600). </p><p>Kathiresan et al. (2008) studied SNPs in 9 genes in 5,414 subjects from the cardiovascular cohort of the Malmo Diet and Cancer Study. All 9 SNPs, including rs328 of LPL, had previously been associated with elevated LDL or lower HDL. Kathiresan et al. (2008) replicated the associations with each SNP and created a genotype score on the basis of the number of unfavorable alleles. With increasing genotype scores, the level of LDL cholesterol increased, whereas the level of HDL cholesterol decreased. At 10-year follow-up, the genotype score was found to be an independent risk factor for incident cardiovascular disease (myocardial infarction, ischemic stroke, or death from coronary heart disease); the score did not improve risk discrimination but modestly improved clinical risk reclassification for individual subjects beyond standard clinical factors. </p><p>Aulchenko et al. (2009) reported the first genomewide association (GWA) study of loci affecting total cholesterol, LDL cholesterol, HDL cholesterol, and triglycerides sampled randomly from 16 population-based cohorts and genotyped using mainly the Illumina HumanHap300-Duo platform. This study included a total of 17,797 to 22,562 individuals aged 18 to 104 years from geographic regions spanning from the Nordic countries to southern Europe. Aulchenko et al. (2009) established 22 loci associated with serum lipid levels at a genomewide significance level (P less than 5 x 10(-8)), including 16 loci that were identified by previous GWA studies. This included 2 SNPs near the LPL gene, rs2083637 (p = 5.5 x 10(-18) for HDL cholesterol) and rs10096633 (p = 6.1 x 10(-16) for HDL cholesterol). </p><p>Kim et al. (2011) conducted a metaanalysis combining Korean genomewide association results from the KARE project (n = 8,842) and the HEXA shared control study (n = 3,703), and verified the associations of the loci selected from the discovery metaanalysis in the replication stage (30,395 individuals from the BioBank Japan genomewide association study and individuals comprising the Health2 and Shanghai Jiao Tong University Diabetes cohorts). Kim et al. (2011) identified a SNP on chromosome 8p21.3, rs10503669 (chr8:19,891,970, NCBI36), as significantly associated with triglyceride levels (p = 6.84 x 10(-39)) and HDL cholesterol (p = 8.04 x 10(-43)). </p><p>Richardson et al. (2013) investigated the association of the lipoprotein lipase variant rs13702 (see 609708.0043) with plasma lipids and explored its potential for functionality. The rs13702 minor allele C had been predicted to disrupt a microRNA recognition element seed site (MRESS) for the human microRNA-410 (miR410; 615036). Furthermore, rs13702 is in linkage disequilibrium (LD) with several SNPs identified by genomewide association studies (GWAS). Richardson et al. (2013) performed a metaanalysis across 10 cohorts of participants that showed a statistically significant association of rs13702 with triacylglycerols (TAG, or triglycerides) (p = 3.18 x 10(-42)) and high-density lipoprotein cholesterol (HDLC) (p = 1.316 x 10(-32)), with each copy of a minor allele associated with 0.060 mmol/l lower triglycerides and 0.041 mmol/l higher HDL. Richardson et al. (2013) showed that an LPL 3-prime untranslated region (UTR) luciferase reporter carrying the rs13702 major T allele was reduced by 40% in response to a miR410 mimic. Richardson et al. (2013) also evaluated the interaction between intake of dietary fatty acids and rs13702. Metaanalysis demonstrated a significant interaction between rs13702 and dietary polyunsaturated fatty acid (PUFA) with respect to triglyceride concentrations (p = 0.00153), with the magnitude of the inverse association between dietary PUFA intake and triglyceride concentration showing a -0.007 mmol/l greater reduction. Richardson et al. (2013) concluded that rs13702 induces the allele-specific regulation of LPL by miR410 in humans. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Population Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Pursuant to the report by Nickerson et al. (1998), the same group (Clark et al., 1998) analyzed the haplotype structure and population genetic inferences that could be derived from the nucleotide sequence variation found in LPL. They concluded that variation in the defined region of LPL may depart from the variation expected under a simple, neutral model, owing to complex historical patterns of population founding, drift, selection, and recombination. The findings suggested to them that the design and interpretation of disease association studies may not be as straightforward as often is assumed. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>To study the effects of increased free fatty acid (FFA) uptake in muscle tissue, Levak-Frank et al. (1995) generated transgenic mice carrying a human LPL minigene driven by the promoter of the muscle creatine kinase gene (123310). In these mice, human LPL was expressed in skeletal muscle and cardiac muscle, but not in other tissues. In 3 independent transgenic mouse lines, the authors detected decreased plasma triglyceride levels, elevated FFA uptake by muscle tissue, weight loss, and premature death in proportion to the level of LPL overexpression. The animals developed severe myopathy characterized by muscle fiber degeneration, fiber atrophy, glycogen storage, and extensive proliferation of mitochondria and peroxisomes. The extensive proliferation suggested to Levak-Frank et al. (1995) that FFA plays an important role in the biogenesis of these organelles. The experiments indicated that LPL is rate-limiting for the supply of muscle tissue with triglyceride-derived FFA. The authors concluded that improper regulation of muscle LPL can lead to major pathologic changes and may be important in the pathogenesis of some human myopathies. </p><p>In further transgenic studies, Weinstock et al. (1995) demonstrated that homozygous knockout mice have, at birth, 3-fold higher triglycerides and 7-fold higher VLDL cholesterol levels than controls. When permitted to suckle, LPL-deficient mice become pale, than cyanotic, and finally die at approximately 18 hours of age. Before death, triglyceride levels are severely elevated. Capillaries and tissues of homozygous knockout mice are engorged with chylomicrons. This is especially significant in the lung where marginated chylomicrons prevent red cell contact with the endothelium, a phenomenon that is presumably the cause of cyanosis and death in these mice. Homozygous knockout mice also have diminished adipose tissue stores, as well as decreased intracellular fat droplets. By crossbreeding with transgenic mice expressing human LPL driven by a muscle-specific promoter, mouse lines were generated that expressed LPL exclusively in muscle tissue. This tissue-specific LPL expression rescued the LPL knockout mice and normalized their lipoprotein pattern. Heterozygous LPL knockout mice survived to adulthood and had mild hypertriglyceridemia. In vivo turnover studies demonstrated that heterozygous knockout mice had impaired VLDL clearance (fractional catabolic rate) but no increase in transport rate. These observations provided to the authors an explanation for the tendency of heterozygous relatives of type I hyperlipoproteinemic probands to be hypertriglyceridemic. </p><p>Ginzinger et al. (1996) studied a domestic cat colony with chylomicronemia and other phenotypic features shared with human LPL deficiency. They showed that the affected cats had a nucleotide change resulting in a substitution of arginine for glycine at residue 412 in exon 8 of the LPL gene. In vitro mutagenesis and expression studies, in addition to segregation analysis, showed that this mutation is the cause of LPL deficiency in this cat colony. Reduced body mass and growth rates and increased stillbirth rates were observed in cats homozygous for the mutation. The authors noted that the cat model should be useful for in vivo investigation of the relationship between triglyceride-rich lipoproteins and atherogenic risk and for the assessment of new approaches for treatment of LPL deficiency, including gene therapy. </p><p>Yagyu et al. (2003) generated transgenic mice in which human LPL was expressed and anchored to the cardiomyocyte surface. More lipid accumulated in hearts expressing the transgene, and myocytes were enlarged and exhibited abnormal architecture. Hearts of transgenic mice were dilated and left ventricular systolic function was impaired. Yagyu et al. (2003) concluded that LPL expressed on the surface of cardiomyocytes can increase lipid uptake and produce cardiomyopathy. </p><p>Zhao et al. (2006) generated Lpl-deficient mice that were rescued from neonatal death by intramuscular injection of an adenoviral vector coding a human LPL mutant. The Lpl-deficient mice developed severe hypertriglyceridemia, causing a significant increase in plasma viscosity. Changes in erythrocytes were observed, including decreased deformability, electrophoresis rate, and membrane fluidity, and increased osmotic fragility. Electron microscopy revealed deformed erythrocytes with protrusions and indistinct concavity; analysis of erythrocyte membrane lipids showed decreased cholesterol and phospholipid content but an unaltered ratio of the 2 substances. Zhao et al. (2006) concluded that severe hypertriglyceridemia can lead to significant impairment of blood flow, which may play a role in the pathogenesis of hyperlipidemic pancreatitis and atherosclerosis. </p><p>Chen et al. (2008) developed an alternative to the classic forward genetics approach for dissecting complex disease traits where, instead of identifying susceptibility genes directly affected by variations in DNA, they identified gene networks that are perturbed by susceptibility loci and that in turn lead to disease. Application of this method to liver and adipose gene expression data generated from a segregating mouse population resulted in the identification of a macrophage-enriched metabolic network (MEMN) supported as having a causal relationship with disease traits associated with metabolic syndrome (see 605552). Three genes in this network, LPL, lactamase beta (LACTB; 608440), and protein phosphatase 1-like (PPM1L; 611931), were validated as previously unknown obesity genes, strengthening the association between this network and metabolic disease traits. Given the prediction that LPL and LACTB have a causal relationship with obesity, Chen et al. (2008) recorded weight, fat mass, and lean mass for Lpl heterozygous null mice, Lactb transgenic mice, and wildtype littermate controls every 2 weeks starting at 11 weeks of age using quantitative nuclear magnetic resonance (NMR). As predicted, the growth curves for the Lpl heterozygous null and Lactb transgenic animals were significantly different from those of controls, with the fat mass/lean mass ratio difference generally increasing over time. At the final quantitative NMR measurement the fat mass/lean mass ratios in the Lpl heterozygous null mouse and the Lactb transgenic mice were increased by 22% and 20%, respectively, over the wildtype controls (p = 1.09 x 10(-5) and p = 4.48 x 10(-5)), respectively. LPL is the principle enzyme responsible for the hydrolysis of circulating triglycerides and is active in differentiated macrophages, consistent with its presence in the MEMN. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>43 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, ALA176THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204056,
|
|
|
|
|
|
|
|
ClinVar: RCV000001583
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>This mutation is sometimes called LPL-Bethesda.</p><p>In the proband from a Bethesda, Maryland, kindred with lipoprotein lipase deficiency (238600), Beg et al. (1990) demonstrated a G-to-A substitution at nucleotide 781 in the fifth exon of the LPL gene, which resulted in an ala-to-thr substitution at residue 176 (A176T). The patient showed what Beg et al. (1990) referred to as the chylomicronemia syndrome. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, GLY188GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204057,
|
|
|
|
|
|
gnomAD: rs118204057,
|
|
|
|
|
|
ClinVar: RCV000001586, RCV000521241, RCV000763181, RCV001248904, RCV002362549, RCV003415622
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with lipoprotein lipase deficiency (238600) reported by Wilson et al. (1983), Emi et al. (1990) demonstrated homozygosity a G-to-A transition at nucleotide 818 in exon 5 of the LPL gene, resulting in a gly188-to-glu (G188E) substitution in the mature protein. The substitution was demonstrated by a study of LPL cDNA prepared from the adipose tissue of the patient. Hybridization of genomic DNA with allele-specific oligonucleotides confirmed the patient's homozygosity and showed the carrier status for this mutation among relatives of the patient in whom the mutation was associated with hypertriglyceridemia. </p><p>Monsalve et al. (1990) found the same mutation in 21 of 88 LPL alleles assessed. The 21 alleles came from 13 unrelated probands with LPL deficiency of French Canadian, English, Polish, German, Dutch, and East Indian ancestry. The mutation altered an AvaII restriction site and allowed a rapid screening test. The mutation occurred on the same haplotype in all the unrelated affected persons, suggesting a common origin. The amino acid substitution lies within the longest segment of homology for LPL in different species and results in a protein that is catalytically defective. Haplotype analysis suggested that at least 2 other mutations underlie the high frequency of LPL deficiency in French Canadians in Quebec (Gagne et al., 1989), where the carrier frequency is as high as 1 in 40 in some areas. The presence of the same haplotype background in the non-European cases from the vicinity of Bombay where no European admixture could be identified is surprising. </p><p>Homozygosity for the G188E mutation results in class I LPL deficiency, i.e., there is absence of enzyme protein. By hybridization of DNA from multiple family members with allele-specific probes for the G188E mutation, Wilson et al. (1990) detected 29 relatives of a homozygous proband who were carriers of the mutant allele. They found that these individuals were prone to a form of familial hypertriglyceridemia that was age modulated, with conspicuous difference between carriers and noncarriers observed only after age 40. Obesity, hyperinsulinemia, and lipid-raising drug use were aggravating factors. </p><p>Paulweber et al. (1991) found the same mutation in 2 Austrian families with type I hyperlipoproteinemia. Henderson et al. (1992) assessed 16 South African LPL-deficient patients from 9 separate kindreds with the G188E mutation. Nine of the 16 were homozygous for the mutation and were from 4 families, all of Indian descent. Their ancestors originated from villages close to Bombay, India, which suggested a common ancestral mutation, particularly because the mutant allele in each family carried the identical RFLP haplotype. </p><p>Gilbert et al. (2001) identified homozygosity for the G188E mutation in a 2-year-old patient presenting classic features of familial LPL deficiency including undetectable LPL activity. They found reports of 221 mutations involved in this disorder. The G188E mutation was found in 23.5% of cases. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, INS
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000001584
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Langlois et al. (1988) described an insertion in the LPL gene as a frequent cause of deficiency (238600). The insertion appeared to have arisen by some mechanism other than transposition of mobile L1 repetitive elements. Specifically, Langlois et al. (1989) used an LPL cDNA clone to study affected persons in 11 families. Four families of different ancestry were found to carry a similar insertion in their LPL gene. Detailed restriction mapping of the insertion showed that it was not likely to be a duplication of neighboring DNA, nor was it similar to the consensus sequence of human L1 repetitive elements. In a person of Malay extraction, the offspring of a consanguineous mating, a 5-bp insertion in exon 3, leading to an altered reading frame and premature stop codon in exon 4, was found. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, 2-KB DUP
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000001585
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Devlin et al. (1989, 1990) found that approximately 25% of patients of European extraction with lipoprotein lipase deficiency (238600) have a 2-kb direct tandem duplication in the LPL gene between exon 6 and an Alu element within intron 6. Since this appears in persons of different European ancestries, the mutation probably predates the spread of the individual populations. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, 6-KB DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000001587
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 1 family with lipoprotein lipase deficiency (238600), Devlin et al. (1989, 1990) found a 6-kb deletion in the LPL gene, with breakpoints in introns 2 and 5. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, GLN106TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204058,
|
|
|
|
|
|
gnomAD: rs118204058,
|
|
|
|
|
|
ClinVar: RCV000001588, RCV001385518
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In the DNA from a male patient of German and Polish ancestry who had lipoprotein lipase deficiency (238600), Emi et al. (1990) detected a C-to-T transition in the LPL gene leading to the substitution of a stop signal for the codon that normally determines a glutamine at position 106 of the mature enzyme (Q106X). Hybridization with allele-specific oligonucleotides at this position established that the patient was homozygous for this mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, SER244THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204059,
|
|
|
|
|
|
|
|
ClinVar: RCV000001589
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>By cloning and sequencing the translated exons and intron-exon boundaries of the lipoprotein lipase gene in a patient of French descent who had the chylomicronemia syndrome (238600), Hata et al. (1990) found compound heterozygosity for 2 nucleotide substitutions: one was a missense mutation, the substitution of threonine for serine-244 (S244T), resulting from a TCC-to-ACC change, while the other was an AG-to-AA transition in the 3-prime splice site of intron 2 (609708.0008). The functional significance of the S244T substitution was established by in vitro expression in cultured mammalian cells. According to studies of De Braekeleer et al. (1991), the birthplaces of 58 French Canadian carriers of familial hyperchylomicronemia in eastern Quebec cluster in 3 regions. No founder common to all of them could be found. Three sets of founders were identified, 1 for each region, with little overlap between regions. Presumably more than one mutation was introduced by French immigrants in the 17th century. Perche, a region situated between Paris and Normandy, appeared to be the most likely center of diffusion of at least one of these mutations. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, IVS2DS, G-A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1563572716,
|
|
|
|
|
|
|
|
ClinVar: RCV000001590
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See 609708.0007 for discussion of the 3-prime splice site mutation discovered by Hata et al. (1990) in a compound heterozygote. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, PRO207LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204060,
|
|
|
|
|
|
gnomAD: rs118204060,
|
|
|
|
|
|
ClinVar: RCV000001591, RCV001253353, RCV001851555, RCV002362550, RCV003964785, RCV005049309
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Ma et al. (1991) described a missense mutation at residue 207 of LPL that accounts for approximately 73% of mutant alleles in the French Canadian patients with LPL deficiency (238600). In vitro mutagenesis studies confirmed that this mutation causes catalytically defective LPL. Sequence analysis of exon 5 showed a C-to-T transition at nucleotide 875 which resulted in an amino acid substitution of leucine for proline-207 (P207L). The mutation was easily detected by dot-blot analysis, providing definitive DNA diagnosis and identification of heterozygotes. </p><p>The P207L mutation is the most frequent mutation in the French Canadian population, representing 72.1% of the mutant alleles in LPL-deficient patients (Normand et al., 1992). The next most frequent mutation, G188E (609708.0002), was found in 24.3% of mutant alleles. Genealogic reconstruction of French Canadian LPL-deficient patients pointed to 16 founders of P207L, all of whom migrated to Quebec in the early 17th century from the northwestern part of France, especially from the region of Perche. Most of the carriers of this mutation are at present found in the Charlevoix, Saguenay-Lac-Saint-Jean regions of eastern Quebec. Based on the number of homozygotes so far identified, Normand et al. (1992) estimated that at least 31,000 persons in the province of Quebec carried the mutation. Wood et al. (1993) characterized 2 polymorphic GT microsatellites flanking the LPL gene and showed that the 2 very frequent French Canadian mutations were in complete linkage disequilibrium with specific LPL microsatellite haplotypes, indicating a founder effect within this population. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, ILE194THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204061,
|
|
|
|
|
|
gnomAD: rs118204061,
|
|
|
|
|
|
ClinVar: RCV000001593, RCV001248903, RCV001388969, RCV003298025
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 34-year-old white female with hyperchylomicronemia syndrome (238600), Dichek et al. (1991) found compound heterozygosity for 2 amino acid substitutions: a T-to-C transition at nucleotide 836 resulted in the substitution of threonine for isoleucine-194 (I194T), and a G-to-A transition at base 983 led to the substitution of histidine for arginine-243 (R243H; 609708.0011) and the loss of an HhaI restriction enzyme site. The woman had been screened for hypertriglyceridemia at birth, after an older sib had been found to have deficiency of LPL. Throughout childhood, she had had recurrent episodes of abdominal pain and pancreatitis, together with eruptive xanthomas, lipemia retinalis, and splenomegaly. </p><p>In 3 unrelated patients, Henderson et al. (1991) found a T-to-C transition at codon 194 in exon 5 of the LPL gene, resulting in a substitution of threonine for isoleucine. The mutation was associated with 2 different DNA haplotypes, consistent with a multicentric origin of the mutation. One of these patients was later found to be a compound heterozygote (609708.0036). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, ARG243HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204062,
|
|
|
|
|
|
gnomAD: rs118204062,
|
|
|
|
|
|
ClinVar: RCV000001594, RCV000497435, RCV001248901, RCV002415385
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See 609708.0010 and Dichek et al. (1991). Also see Gotoda et al. (1991). </p><p>Ma et al. (1994) found this mutation in 2 unrelated cases, one Dutch and one Chinese. They also found a recurrent arg243-to-cys mutation (R243C; 609708.0031) occurring in the same CGC codon, indicating the high mutability of CpG dinucleotides within the LPL gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, GLY142GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204063,
|
|
|
|
|
|
gnomAD: rs118204063,
|
|
|
|
|
|
ClinVar: RCV000001596
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs with the chylomicronemia syndrome (238600), offspring of first-cousin parents, Ameis et al. (1991) demonstrated a G-to-A substitution at nucleotide 680 of the LPL gene resulting in replacement of glycine by glutamic acid at residue 142 of the mature LPL protein (G142E). The mutated LPL was not catalytically active nor was it efficiently secreted from the cells. </p><p>Busca et al. (1996) mutated the human LPL cDNA by site-directed mutagenesis to produce the G142E substitution. By study of COS-1 cells transiently transfected with the mutant G142E lipoprotein lipase, they showed that the mutant enzyme was not efficiently secreted into the extracellular medium, but was missorted to lysosomes for intracellular degradation. This finding suggested to the authors that lysosomal missorting may be a mechanism of cell quality control of secreted LPL. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, ASP156GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204064,
|
|
|
|
|
|
|
|
ClinVar: RCV000001597
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 brothers of Turkish descent with type I hyperlipoproteinemia (238600), Faustinella et al. (1991) found 2 mutations in the LPL gene: a missense mutation changing codon 156 from GAU to GGU predicting an asp156-to-gly substitution (D156G), and a nonsense mutation changing the codon for serine-447 from UCA to UGA (S447X; 609708.0014), predicting a truncated LPL protein that contains 446 instead of 448 amino acid residues. Both patients were homozygous for both mutations. The clinically unaffected parents and a sib were heterozygotes for both mutations. The functional significance of the mutations was studied by expressing mutant LPLs in vitro using a eukaryotic expression vector. A D156G mutation was found to be totally without enzyme activity, whereas mutations at the 447 and 448 positions had normal enzyme activity. Among 224 unrelated normal Caucasians, Faustinella et al. (1991) found 36 who were heterozygous and 1 who was homozygous for the S447X mutation, indicating that it is a sequence polymorphism with no functional significance. Through comparison with pancreatic lipase, with which LPL shows high homology, Faustinella et al. (1991) concluded that the catalytic triad of LPL corresponds to asp156/his241/ser132. The D156G mutant was the first naturally occurring mutant reported that involved a catalytic triad residue among the lipases and serine proteases. It gave strong support for the essential role of asp156 in enzyme catalysis. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 LPL POLYMORPHISM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, SER447TER ({dbSNP rs328})
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs328,
|
|
|
|
|
|
gnomAD: rs328,
|
|
|
|
|
|
ClinVar: RCV000385586, RCV001511819, RCV001804709, RCV002390085, RCV002504735, RCV003974788
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See 609708.0013. Although Faustinella et al. (1991) considered this a polymorphism of no functional significance, Kobayashi et al. (1992), who found it in heterozygous state in a patient with LPL deficiency (238600), thought it might contribute. Both parents had about half-normal LPL activity; hence, the heterozygous S447X mutation cannot be solely responsible for type I hyperlipidemia in that case. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, IVS2DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1563569634,
|
|
|
|
|
|
|
|
ClinVar: RCV000001599, RCV001236175, RCV001537867, RCV002426478
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In each of 5 unrelated Japanese patients with familial LPL deficiency (238600), Gotoda et al. (1991) found homozygosity for a distinct point mutation dispersed throughout the LPL gene. Only one of these mutations had previously been described, the arg243-to-his mutation (R243H; 609708.0011). One of the other patients had a G-to-A transition at the first nucleotide of intron 2, which abolished normal splicing. See also 609708.0008. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, TYR61TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204065,
|
|
|
|
|
|
gnomAD: rs118204065,
|
|
|
|
|
|
ClinVar: RCV000001600, RCV002453245
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>One of 5 unrelated Japanese patients with familial LPL deficiency (238600) was shown by Gotoda et al. (1991) to have a nonsense mutation in exon 3 (tyr61 to ter; Y61X). </p><p>In a 10-month-old boy with lipoprotein lipase deficiency, Gotoda et al. (1992) found compound heterozygosity for the Y61X mutation and a frameshift mutation at nucleotide 916 resulting from deletion of a single guanine (G) base at that position (609708.0019). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, TRP382TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204066,
|
|
|
|
|
|
|
|
ClinVar: RCV000001601, RCV002504736
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 1 of 5 unrelated Japanese patients with familial LPL deficiency (238600), Gotoda et al. (1991) demonstrated homozygosity for a nonsense mutation in exon 8 (trp382 to ter; W382X). This mutation demonstrated the importance of the carboxy-terminal portion of the enzyme in the expression of LPL activity. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, ASP204GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204067,
|
|
|
|
|
|
gnomAD: rs118204067,
|
|
|
|
|
|
ClinVar: RCV000001592
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 1 of 5 unrelated Japanese patients with familial LPL deficiency (238600), Gotoda et al. (1991) demonstrated homozygosity for a missense mutation, asp204 to glu (D204E), located in a strictly conserved amino acid. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
LPL-ARITA
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, 1-BP DEL, 916G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1563575252,
|
|
|
|
|
|
|
|
ClinVar: RCV000001602, RCV000001603
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 brothers with hyperchylomicronemia (238600), Takagi et al. (1992) found homozygosity for a mutation referred to as LPL-Arita: deletion of 1 base, G at nucleotide position 916 in exon 5 (the first position of ala221), which led to premature termination by a frameshift. No detectable LPL mRNA was identified. Heterozygous LPL-Arita-deficient subjects showed approximately half value of control LPL mass. The mutation resulted in the loss of an AluI restriction enzyme site. Bergeron et al. (1992) reported that, although the G188E (609708.0002) mutation occurs in the largest absolute numbers among French Canadians as compared to other groups in the world, it accounts for only 24% of all the LPL mutant alleles in this population. The mutation was found to be more prevalent in western Quebec with the highest carrier rate in the Mauricie region. Genealogic reconstruction led to the recognition of 4 founders, all emigrants from France to Quebec in the 17th century. </p><p>Gotoda et al. (1992) found compound heterozygosity for a one-base deletion in the first nucleotide of codon 221 of the LPL gene and a Y61X mutation (609708.0016). The deletion resulted in a shift of reading frame in the downstream region and the occurrence of a premature termination codon 3 residues downstream. Thus the resulting mutant LPL was a truncated protein with a net loss of 225 amino acid residues in the carboxy terminal region as well as alterations in its last 3 residues. </p><p>Kawashiri et al. (2005) reported a 22-year-old Japanese male with this mutation who had had no major pancreatic malformations, vascular complications, or severe glucose intolerance despite a 32-year clinical history of pancreatitis recurring more than 20 times. Based on the long-term observations of this patient, Kawashiri et al. (2005) proposed that LPL deficiency is not invariably associated with high mortality and that even with repeated episodes of acute pancreatitis, pancreatic function may be slow to decline. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, ASP250ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204068,
|
|
|
|
|
|
gnomAD: rs118204068,
|
|
|
|
|
|
ClinVar: RCV000001604, RCV001059212, RCV002426479, RCV002476909
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a French Canadian patient, Ma et al. (1992) found a G-to-A transition in exon 6 of the LPL gene, resulting in substitution of asparagine for aspartic acid at residue 250 (D250N), as the basis of familial chylomicronemia (238600). Using in vitro site-directed mutagenesis, they confirmed that the mutation caused a catalytically defective LPL protein. The D250N mutation was also found on the same haplotype in an LPL-deficient patient of Dutch ancestry, suggesting a common origin. The mutation altered a TaqI restriction site, thus allowing for rapid screening in patients with LPL deficiency. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0021 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, TRP86ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204069,
|
|
|
|
|
|
gnomAD: rs118204069,
|
|
|
|
|
|
ClinVar: RCV000001605, RCV001197456, RCV001851556, RCV005049310
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient of English ancestry with familial chylomicronemia caused by LPL deficiency (238600), Ishimura-Oka et al. (1992) demonstrated compound heterozygosity for the gln106-to-ter mutation (Q106X; 609708.0006) and a new mutation: a T-to-C transition for codon 86 (TGG) at nucleotide 511, resulting in a trp86-to-arg substitution (W86R). The functional significance of the mutation was confirmed by in vitro expression and enzyme activity assays of the mutant LPL. The W86R mutation in exon 3 was the first natural missense mutation identified outside exons 4 through 6, which encompass the catalytic triad residues. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0022 REMOVED FROM DATABASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0023 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, TRP64TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204070,
|
|
|
|
|
|
gnomAD: rs118204070,
|
|
|
|
|
|
ClinVar: RCV000001606, RCV001385517, RCV001813730
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with lipoprotein lipase deficiency (238600), Sprecher et al. (1992) found a G-to-A transition at nucleotide position 446 of exon 3 of the LPL gene resulting in a premature termination codon, trp64 to ter (W64X). The patient had the ile194-to-thr mutation (I194T; 609708.0010) in the other allele. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0024 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, IVS1, G-C, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs766134215,
|
|
|
|
|
|
gnomAD: rs766134215,
|
|
|
|
|
|
ClinVar: RCV000001607
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient from a Southern Italian family with lipoprotein lipase deficiency (238600), Chimienti et al. (1992) described homozygosity for a G-to-C transversion at the first nucleotide of intron 1 of the LPL gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0025 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, ALA334THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204071,
|
|
|
|
|
|
|
|
ClinVar: RCV000001608, RCV002247233
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with type I hyperlipidemia (238600), Kobayashi et al. (1993) found a G-to-A transition at nucleotide position 1255 of the LPL gene resulting in a substitution of thr for ala334 (A334T). The patient was a 34-year-old woman whose fasting plasma triglyceride and cholesterol levels were 7,523 mg/dl and 818 mg/dl, respectively, at 35 weeks' gestation. The patient was homozygous. This was the first missense mutation identified in exon 7 of the LPL gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0026 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, SER172CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204072,
|
|
|
|
|
|
gnomAD: rs118204072,
|
|
|
|
|
|
ClinVar: RCV000001609
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Ma et al. (1993) described a ser172-to-cys (S172C) mutation in exon 5 of the LPL gene in a patient with mild hypertriglyceridemia aggravated by pregnancy. Normal pregnancy is associated with a 2- to 3-fold increase in plasma triglyceride levels, particularly in the third trimester, due both to the overproduction of VLDLs and to the possible suppression of lipoprotein lipase activity. The defect in this 30-year-old woman, first diagnosed during pregnancy after she developed pancreatitis, was the first example of partial LPL deficiency (238600). Her plasma triglyceride levels remained mildly elevated at approximately 300 mg/dl (3.4 mmol/liter) after the first pregnancy but after she became pregnant again rose to 1800 to 2000 mg/dl (20.2 to 22.5 mmol/liter). In vitro mutagenesis revealed that the S172C mutation resulted in a mutant LPL protein with residual activity. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0027 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, ARG75SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204073,
|
|
|
|
|
|
gnomAD: rs118204073,
|
|
|
|
|
|
ClinVar: RCV000001610, RCV003555887
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with type I hyperlipoproteinemia (238600) with chylomicronemia, pancreatitis, and noninsulin-dependent diabetes, Wilson et al. (1993) demonstrated compound heterozygosity for mutations in the LPL gene, a missense mutation (arg75 to ser; R75S) inherited through the paternal line and a truncation (tyr73 to ter; Y73X) inherited through the maternal line. NIDDM appeared to be segregating independently. They found that there were detectable amounts of catalytically competent R75S LPL and interpreted this to mean that destabilization of the active homodimer resulted from the missense mutation as with exon 5 mutants (Hata et al., 1992). Subjects with NIDDM and wildtype LPL, and nondiabetic middle-aged carriers of the Y73X truncation had moderate hypertriglyceridemia and reduced high density lipoprotein cholesterol. A maternal aunt of the proband with NIDDM carried the truncation. Her phenotype (triglycerides of 5,300 mg/dl, eruptive xanthomatosis, and recurrent pancreatitis) was as severe as that in homozygotes or compound heterozygotes. Wilson et al. (1993) concluded that diabetic carriers of dysfunctional LPL alleles are at risk for severe lipemia, and that the physiologic defects in NIDDM may be additive or synergistic with heterozygous LPL deficiency. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0028 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, TYR73TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204074,
|
|
|
|
|
|
gnomAD: rs118204074,
|
|
|
|
|
|
ClinVar: RCV000001595, RCV003555886
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>A Y73X mutation in the LPL gene was found by Wilson et al. (1993) in a compound heterozygote with type I hyperlipoproteinemia (238600) who had the R75S mutation (609708.0027) on the other chromosome. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0029 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, GLY195GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204075,
|
|
|
|
|
|
|
|
ClinVar: RCV000001611
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with LPL deficiency (238600), Hata et al. (1992) found a G-to-A transition at nucleotide 839 in exon 5 of the LDL gene, which resulted in a substitution of glutamic acid for glycine at amino acid 195 (G195E). The patient was homozygous for the mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0030 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, ASP180GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204076,
|
|
|
|
|
|
gnomAD: rs118204076,
|
|
|
|
|
|
ClinVar: RCV000001612, RCV001851557
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 members of an Italian family affected with type I hyperlipoproteinemia (238600), Haubenwallner et al. (1993) found a C-to-G mutation in exon 5 of the LPL gene causing a highly conservative amino acid replacement of glutamic acid for aspartic acid at position 180 of the mature LPL protein (D180E). The mutation resulted in virtual absence of LPL enzyme activity and LPL enzyme mass in postheparin plasma. Both patients were homozygous for the mutation, whereas the parents were heterozygous. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0031 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, ARG243CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204077,
|
|
|
|
|
|
gnomAD: rs118204077,
|
|
|
|
|
|
ClinVar: RCV000001613, RCV001055155, RCV002415386, RCV003894783, RCV005049311
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 patients with familial chylomicronemia (238600), one of German and one of French descent, Ma et al. (1994) found an arg243-to-cys (R243C) substitution in the LPL gene. Haplotype analysis favored 2 separate origins for the substitution. Recurrent mutations resulting in an arg243-to-his substitution (609708.0011) have also been observed. These mutations affect a CGC codon and support the high mutability of CpG dinucleotides within the LPL gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0032 COMBINED HYPERLIPIDEMIA, FAMILIAL, SUSCEPTIBILITY TO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, -39T-C, PROMOTER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2128835067,
|
|
|
|
|
|
|
|
ClinVar: RCV000001614, RCV004689400
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Yang et al. (1995) found that 1 of 20 patients with familial combined hyperlipidemia (FCHL; 144250) and reduced levels of postheparin plasma LPL activity was compound heterozygous for 2 promoter mutations in the LPL gene: a T-to-C substitution at nucleotide -39 in the binding site of the transcription factor OCT1 (164175) and a T-to-G substitution at nucleotide -93 (609708.0038). The transcriptional activity of the -39 mutant promoter was less than 15% of wildtype, and that of the -93 mutant promoter was less than 50% of wildtype, as determined by transfection studies in a human macrophage-like cell line. This decrease in promoter activity was observed in undifferentiated as well as in phorbol ester-differentiated cells. Furthermore, the inductive affect of elevating the levels of intracellular cAMP was equally reduced. The lipid and lipoprotein profiles of heterozygous relative of LPL-deficient probands often resemble those of patients with a mild form of FCHL. Elevated apolipoprotein B, triglyceride and/or cholesterol are features of FCHL. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0033 COMBINED HYPERLIPIDEMIA, FAMILIAL, SUSCEPTIBILITY TO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, ASN291SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs268,
|
|
|
|
|
|
gnomAD: rs268,
|
|
|
|
|
|
ClinVar: RCV000001615, RCV000781944, RCV000988041, RCV001356263, RCV002222335, RCV002371753, RCV002467488
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 20 of 169 unrelated male patients suffering from familial combined hyperlipidemia (FCHL; 144250), Reymer et al. (1995) found a nucleotide substitution in exon 6 of the LPL gene resulting in an asn291-to-ser substitution (N291S). This mutation was also present in 15 male controls, albeit at a lower frequency: 4.6% in controls versus 11.8% in FCHL patients (p less than 0.02). An association was demonstrated between the N291S substitution and decreased HDL cholesterol. FCHL patients carrying this mutation showed decreased HDL cholesterol and increased triglyceride levels compared to noncarriers. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0034 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, LEU365VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204078,
|
|
|
|
|
|
|
|
ClinVar: RCV000001616
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Italian (Apulia) family with lipoprotein lipase deficiency (238600), Pepe et al. (1994) described a C-to-G transversion in exon 8 of the LPL gene, which changed leucine to valine at position 365 (L365V), causing a severe mass reduction and loss of enzymatic activity. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0035 COMBINED HYPERLIPIDEMIA, FAMILIAL, SUSCEPTIBILITY TO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, ASP9ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1801177,
|
|
|
|
|
|
gnomAD: rs1801177,
|
|
|
|
|
|
ClinVar: RCV000001617, RCV000157298, RCV000352575, RCV000454647, RCV000733476, RCV002408446, RCV003924794
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Nevin et al. (1994) reported that mutations in the LPL gene, including D9N, are present in a subgroup of FCHL patients (144250). Reymer et al. (1995) claimed that 20% of Dutch hyperlipidemic individuals have the N291S mutation (609708.0033). De Bruin et al. (1996) screened a group of 28 probands with familial combined hyperlipidemia and group of 91 population controls for the 2 LPL gene mutations, D9N and N291S. In this way, 2 pedigrees from probands with the D9N mutation and 2 pedigrees from probands with the N291S mutation were studied, representing a total of 24 subjects. Both LPL gene mutations were associated with a significant effect on plasma lipids and apolipoproteins. Presence of the D9N mutation (n = 7) was associated with hypertriglyceridemia and reduced plasma high-density lipoprotein cholesterol concentrations. LPL-D9N carriers had higher diastolic blood pressure than noncarriers. Linkage analysis revealed no significant relationship between the D9N or N291S LPL gene mutations and the FCH phenotype (hypertriglyceridemia, hypercholesterolemia, or increased apo-B concentrations). De Bruin et al. (1996) concluded that the LPL gene did not represent the major single gene causing familial combined hyperlipidemia in the 4 pedigrees studied, but that the D9N and N291S mutations had significant additional effects on lipid and apolipoprotein phenotype. </p><p>Wittrup et al. (1999) undertook to test the hypothesis that the D9N substitution and the -93T-G mutation (609708.0038) in the promoter of the LPL gene affect plasma lipid levels and thereby the risk of IHD. They genotyped 9,033 men and women from a general population sample and 940 patients with IHD. The frequency of both the G allele and the asn9 allele in the general population sample was approximately 0.015 for both men and women. These 2 mutations appeared together in 95% of carriers. The average triglyceride-raising effect associated with double heterozygosity for the 2 mutations was 0.28 mmol/L (p = 0.004) and 0.16 mmol/L (p = 0.10) in men and women, respectively. Of the overall risk of IHD in men in the general population, the fraction attributable to double heterozygosity was 3%, similar to the 5% attributable to diabetes mellitus. The results demonstrated that the D9N substitution is in linkage disequilibrium with the -93T-G mutation and that the double-heterozygous carrier status is associated with elevated plasma triglycerides and an increased risk of IHD in men. </p><p>Boer et al. (1999) studied the interaction between the common D9N mutation in the LPL gene and physical activity, as well as other lifestyle factors, on lipid traits in a population-based sample of 379 Dutch men and women. Nonfasting blood samples were used for determination of lipid traits and the D9N genotype. Fifteen subjects (4%) were found to have the mutation; all 15 had higher levels of total cholesterol, apoB, and triglycerides as compared to noncarriers. While no interactions with overweight, alcohol consumption, and smoking were found, a strong interaction between the D9N mutation and physical activity was apparent. The 5 physically inactive D9N carriers had significantly higher total cholesterol and apoB levels as compared to noncarriers, whereas their HDL cholesterol concentrations were lower. The same was not the case for the 10 physically active carriers. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0036 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, CYS418TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204079,
|
|
|
|
|
|
|
|
ClinVar: RCV000001618
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Henderson et al. (1996) reported the discovery of a second allelic variant of LPL in a patient previously described with an ile194-to-thr (I194T; 609708.0010) mutation. This patient, a South African male of Dutch and Malay ancestry, was diagnosed in childhood as LPL deficient (238600) and was diagnosed after puberty with hypertriglyceridemia. He had no detectable LPL activity. DNA analysis revealed a G-to-A transition at nucleotide 1508 resulting in a cys418-to-tyr substitution (C418Y). </p><p>Henderson et al. (1996) mutated the human LPL cDNA by site-directed mutagenesis to produce the C418Y substitution, a C438S substitution, and a C418S/C438S double mutant. By studying COS cells transiently transfected with these mutants, they showed that the C418Y mutation had 48% of normal activity while the C438S and C418S/C438S double mutant had 76% and 78% of normal activity, respectively. These decreased levels of activity were accounted for by the lower protein mass levels of the mutants rather than by decreased enzymatic activities. Henderson et al. (1996) stated that their in vitro findings agree with those of Lo et al. (1995); however, their results did not explain why their I194T/C418Y patient (609708.0010, 609708.0036) had no detectable LPL activity. In vitro transfection experiments discounted a dominant-negative effect. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0037 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, ILE225THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204080,
|
|
|
|
|
|
gnomAD: rs118204080,
|
|
|
|
|
|
ClinVar: RCV000001619, RCV001039273, RCV005041965
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with chylomicronemia (238600), Henderson et al. (1998) found compound heterozygosity for mutations in the LPL gene: arg243 to his (R243H; 609708.0011) and ile225 to thr (I225T). The latter was the first and only mutation identified in the loop region of LPL. Both parents of the propositus were screened for the presence of these 2 mutations; although the R243H mutation was found in the father, the I225T mutation was not found in the maternal DNA. Maternity was confirmed by polymorphic markers. Therefore, Henderson et al. (1998) concluded that this represents a new mutation, the first to be reported in the LPL gene. The patient first presented at the age of 19 years with acute epigastric pain caused by pancreatitis and an underlying chylomicronemia (fasting triglyceride more than 25 mmol/L). Between the ages of 19 and 25 years, he was hospitalized for pancreatitis at least once a year. The patient was a Dutch citizen. The R243H mutation had been described in persons of Chinese, Japanese, and Italian descent. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0038 COMBINED HYPERLIPIDEMIA, FAMILIAL, SUSCEPTIBILITY TO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, -93T-G, PROMOTER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1800590,
|
|
|
|
|
|
gnomAD: rs1800590,
|
|
|
|
|
|
ClinVar: RCV000326637, RCV001512925, RCV001823726
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>While examining 762 Dutch males with angiographically diagnosed coronary artery disease and 296 healthy normolipidemic Dutch males, Kastelein et al. (1998) found that the D9N mutation in exon 2 of the LPL gene (609708.0035) was associated with a second mutation, a T-to-G transversion at position -93 of the proximal promoter region. The 2 mutations exhibited strong linkage disequilibrium, and a higher proportion of cases (4.86%) than controls (1.37%) carried the combined mutation. In the combined sample of cases and controls, adjusted mean plasma total cholesterol levels were significantly higher in the combined mutation carriers than in noncarriers, while mean HDL levels were lower in carriers than in noncarriers. Logistic regression revealed a significant odds ratio for the combined mutation in coronary artery disease cases relative to controls (odds ratio 5.36 with a 95% confidence interval of 1.57 to 18.24), with age, body mass index, smoking, and plasma total- and HDL-cholesterol levels included in the model. </p><p>In a large Utah kindred with familial dyslipidemia (144250) ascertained through a proband with coronary heart disease, Samuels et al. (2001) identified the -93G/D9N (609708.0035) variant haplotype. In this family the variant showed high penetrance for a hypoalphalipoproteinemia phenotype, but was also associated with hypertriglyceridemia and elevated insulin levels. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0039 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
LIPOPROTEIN LIPASE (OLBIA)
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, TYR302TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204081,
|
|
|
|
|
|
|
|
ClinVar: RCV000001621, RCV000001622
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a young Sardinian boy from Olbia with lipoprotein lipase deficiency (238600), Bertolini et al. (2000) found a nonsense mutation (tyr302 to ter; Y302X) in exon 6 of the LPL gene. The patient presented with hepatosplenomegaly and hyperlipidemia at the age of 7 months. He was also a carrier of beta-0-thalassemia (HBB; 141900.0312). The parents came from the same district of northwest Sardinia. The Y302X change was due to homozygosity for a C-to-A transversion which eliminated an RsaI restriction site, which made rapid screening of the family members possible. Nine heterozygotes and 1 additional homozygote were identified. The homozygote was the proband's paternal grandmother who had shown the first clinical manifestation (recurrent pancreatitis) at the age of 54 years. Heterozygotes showed a mild dyslipidemic phenotype characterized by a reduction of high density lipoprotein cholesterol (HDL-C) levels, HDL-C/total cholesterol ratio, and low density lipoprotein (LDL) size, associated with a variable increase of triglyceride levels. Five of the LPL heterozygotes were found to be heterozygous also for beta-0-thalassemia due to the Q39X mutation in the HBB gene. In the carriers of both mutations, plasma HDL-C levels were higher and plasma triglycerides tended to be lower than in carriers of the LPL mutation alone. The Y302X mutation encoded a truncated protein of 301 amino acids that was thought not to be secreted by LPL-producing cells. This was said to be the first mutation of the LPL gene found in Sardinians. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0040 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, CYS239TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204082,
|
|
|
|
|
|
gnomAD: rs118204082,
|
|
|
|
|
|
ClinVar: RCV000001623
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Hoffmann et al. (2000) studied the molecular pathogenesis of type I hyperlipoproteinemia (238600) in a patient suffering from recurrent severe pancreatitis. Apolipoprotein CII concentration was normal as well as apolipoprotein CII-activated LPL in an in vitro assay. Direct sequencing of all 10 exons of the LPL gene revealed that the patient was homozygous for a cys239-to-trp (C239W) mutation in exon 6. The mutation prevents the formation of the second disulfide bridge of LPL, which is an essential part of the lid covering the catalytic center. Consequently, misfolded LPL is rapidly degraded within the cells, causing the absence of LPL immunoreactive protein in the plasma of the patient. After initiation of heparin therapy, the patient experienced no more episodes of pancreatitis, although heparin therapy did not affect serum triglyceride levels. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0041 LIPOPROTEIN LIPASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, 1-BP DEL, CODON 172
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000001624
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with LPL deficiency (238600) and severe hypertriglyceridemia with recurrent pancreatitis, Pruneta-Deloche et al. (2005) detected a heterozygous 1-bp deletion at the second nucleotide of codon 172 of lipoprotein lipase, which resulted in frameshift, premature termination (Ser172fsTer179), and an inactive peptide. The mutation was associated with an antihuman LPL IgG. This autoantibody partially inhibited wildtype LPL activity in vitro. Furthermore, the patient's plasma triglyceride concentrations were efficiently decreased under immunosuppressive treatment, and this was confirmed by sequential withdrawal/reintroduction tests. The patient presented with severe unmanageable type V hyperlipoproteinemia with fasting chylomicronemia. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0042 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 11</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, A-G ({dbSNP rs326})
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs326,
|
|
|
|
|
|
gnomAD: rs326,
|
|
|
|
|
|
ClinVar: RCV000001625, RCV001618206
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an association study of 7 HDL metabolism genes in participants in the Dallas Heart Study and in 849 African American men and women from Maywood, Illinois, Spirin et al. (2007) identified a SNP of the LPL gene, rs326, that was associated with incremental changes in HDL cholesterol levels in 3 independent samples (see HDLCQ11, 238600). This SNP achieved a P value of 3.49 x 10(-8) in analysis of covariance in the entire sample in a model that included race, sex, age, and body mass index (BMI). The A allele was associated with lowering of HDL cholesterol. </p><p>Richardson et al. (2013) showed that rs326 is in linkage disequilibrium with rs13702 (609708.0043), which is the functional variant in this LD region. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0043 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 11</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LPL, T-C ({dbSNP rs13702})
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs13702,
|
|
|
|
|
|
gnomAD: rs13702,
|
|
|
|
|
|
ClinVar: RCV000033176, RCV000353989, RCV001519438
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Richardson et al. (2013) identified the SNP rs13702 as the strongest functional candidate within a large linkage disequilibrium (LD) block at the LPL locus identified in genomewide association studies. The SNP rs13702 showed significant association with triglyceride levels (p = 3.182 x 10(-42)) and HDL cholesterol levels (p = 1.316 x 10(-32)), with each copy of the minor allele showing a 0.60 mmol/l lower triglyceride and a 0.041 mmol/l higher HDL (see HDLCQ11, 238600). The effect of this variant on both triglyceride and HDL levels was consistent across 10 participating cohorts. The rs13702 minor C allele abolishes the response of a functional mIR410 (615036) recognition element in the human LPL 3-prime untranslated region. Richardson et al. (2013) showed that human LPL transcripts harboring the rs13702 major T allele are targeted and their translation partially inhibited by mIR410, and that this interaction is abrogated in transcripts containing the minor C allele. Richardson et al. (2013) also showed a gene-by-diet interaction between rs13702 and polyunsaturated fatty acid intake on triglyceride and HDL levels. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ameis, D., Kobayashi, J., Davis, R. C., Ben-Zeev, O., Malloy, M. J., Kane, J. P., Lee, G., Wong, H., Havel, R. J., Schotz, M. C.
|
|
<strong>Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.</strong>
|
|
J. Clin. Invest. 87: 1165-1170, 1991.
|
|
|
|
|
|
[PubMed: 2010533]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI115114]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Aulchenko, Y. S., Ripatti, S., Lindqvist, I., Boomsma, D., Heid, I. M., Pramstaller, P. P., Penninx, B. W. J. H., Janssens, A. C. J. W., Wilson, W. F., Spector, T., Martin, N. G., Pedersen, N. L.
|
|
<strong>{and 45 others}: Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.</strong>
|
|
Nature Genet. 41: 47-55, 2009.
|
|
|
|
|
|
[PubMed: 19060911]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng.269]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Beg, O. U., Meng, M. S., Skarlatos, S. I., Previato, L., Brunzell, J. D., Brewer, H. B., Jr., Fojo, S. S.
|
|
<strong>Lipoprotein lipase(Bethesda): a single amino acid substitution (ala176-to-thr) leads to abnormal heparin binding and loss of enzymic activity.</strong>
|
|
Proc. Nat. Acad. Sci. 87: 3474-3478, 1990.
|
|
|
|
|
|
[PubMed: 2110364]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.87.9.3474]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Beigneux, A. P., Davies, B. S. J., Gin, P., Weinstein, M. M., Farber, E., Qiao, X., Peale, F., Bunting, S., Walzem, R. L., Wong, J. S., Blaner, W. S., Ding, Z.-M., Melford, K., Wongsiriroj, N., Shu, X., de Sauvage, F., Ryan, R. O., Fong, L. G., Bensadoun, A., Young, S. G.
|
|
<strong>Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons.</strong>
|
|
Cell Metab. 5: 279-291, 2007.
|
|
|
|
|
|
[PubMed: 17403372]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.cmet.2007.02.002]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Benlian, P., De Gennes, J. L., Foubert, L., Zhang, H., Gagne, S. E., Hayden, M.
|
|
<strong>Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene.</strong>
|
|
New Eng. J. Med. 335: 848-854, 1996. Note: Erratum: New Eng. J. Med. 336: 451 only, 1997.
|
|
|
|
|
|
[PubMed: 8778602]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM199609193351203]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Benlian, P., Foubert, L., Gagne, E., Bernard, L., De Gennes, J. L., Langlois, S., Robinson, W., Hayden, M.
|
|
<strong>Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.</strong>
|
|
Am. J. Hum. Genet. 59: 431-436, 1996.
|
|
|
|
|
|
[PubMed: 8755931]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bergeron, J., Normand, T., Bharucha, A., Ven Murthy, M. R., Julien, P., Gagne, C., Dionne, C., De Braekeleer, M., Brun, D., Hayden, M. R., Lupien, P. J.
|
|
<strong>Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Quebec.</strong>
|
|
Clin. Genet. 41: 206-210, 1992.
|
|
|
|
|
|
[PubMed: 1576758]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1992.tb03664.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bertolini, S., Simone, M. L., Pes, G. M., Ghisellini, M., Rolleri, M., Bellocchio, A., Elicio, N., Masturzo, P., Calandra, S.
|
|
<strong>Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (tyr302-to-term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL-Olbia).</strong>
|
|
Clin. Genet. 57: 140-147, 2000.
|
|
|
|
|
|
[PubMed: 10735636]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1034/j.1399-0004.2000.570209.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Boer, J. M. A., Kuivenhoven, J. A., Feskens, E. J. M., Schouten, E. G., Havekes, L. M., Seidell, J. C., Kastelein, J. J. P., Kromhout, D.
|
|
<strong>Physical activity modulates the effect of a lipoprotein lipase mutation (D9N) on plasma lipids and lipoproteins.</strong>
|
|
Clin. Genet. 56: 158-163, 1999.
|
|
|
|
|
|
[PubMed: 10517255]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1034/j.1399-0004.1999.560212.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Busca, R., Martinez, M., Vilella, E., Pognonec, P., Deeb, S., Auwerx, J., Reina, M., Vilaro, S.
|
|
<strong>The mutation gly142-to-glu in human lipoprotein lipase produces a missorted protein that is diverted to lysosomes.</strong>
|
|
J. Biol. Chem. 271: 2139-2146, 1996.
|
|
|
|
|
|
[PubMed: 8567671]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.271.4.2139]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chen, Y., Zhu, J., Lum, P. Y., Yang, X., Pinto, S., MacNeil, D. J., Zhang, C., Lamb, J., Edwards, S., Sieberts, S. K., Leonardson, A., Castellini, L. W., and 10 others.
|
|
<strong>Variations in DNA elucidate molecular networks that cause disease.</strong>
|
|
Nature 452: 429-435, 2008.
|
|
|
|
|
|
[PubMed: 18344982]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature06757]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chimienti, G., Capurso, A., Resta, F., Pepe, G.
|
|
<strong>A G-to-C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a Southern-Italian family.</strong>
|
|
Biochem. Biophys. Res. Commun. 187: 620-627, 1992.
|
|
|
|
|
|
[PubMed: 1530621]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0006-291x(92)91240-q]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Clark, A. G., Weiss, K. M., Nickerson, D. A., Taylor, S. L., Buchanan, A., Stengard, J., Salomaa, V., Vartiainen, E., Perola, M., Boerwinkle, E., Sing, C. F.
|
|
<strong>Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase.</strong>
|
|
Am. J. Hum. Genet. 63: 595-612, 1998.
|
|
|
|
|
|
[PubMed: 9683608]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/301977]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Clee, S. M., Loubser, O., Collins, J., Kastelein, J. J. P., Hayden, M. R.
|
|
<strong>The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides, and reduced risk of coronary artery disease.</strong>
|
|
Clin. Genet. 60: 293-300, 2001.
|
|
|
|
|
|
[PubMed: 11683775]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1034/j.1399-0004.2001.600407.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Davies, B. S. J., Goulbourne, C. N., Barnes, R. H., II, Turlo, K. A., Gin, P., Vaughan, S., Vaux, D. J., Bensadoun, A., Beigneux, A. P., Fong, L. G., Young, S. G.
|
|
<strong>Assessing mechanisms of GPIHBP1 and lipoprotein lipase movement across endothelial cells.</strong>
|
|
J. Lipid Res. 53: 2690-2697, 2012.
|
|
|
|
|
|
[PubMed: 23008484]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1194/jlr.M031559]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
De Braekeleer, M., Dionne, C., Gagne, C., Julien, P., Brun, D., Ven Murthy, M. R., Lupien, P.-J.
|
|
<strong>Founder effect in familial hyperchylomicronemia among French Canadians of Quebec.</strong>
|
|
Hum. Hered. 41: 168-173, 1991.
|
|
|
|
|
|
[PubMed: 1937490]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000153996]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
De Bruin, T. W. A., Mailly, F., Van Barlingen, H. H. J. J., Fisher, R., Castro Cabezas, M., Talmud, P., Dallinga-Thie, G. M., Humphries, S. E.
|
|
<strong>Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia.</strong>
|
|
Europ. J. Clin. Invest. 26: 631-639, 1996.
|
|
|
|
|
|
[PubMed: 8872057]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1365-2362.1996.tb02146.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Deeb, S. S., Peng, R.
|
|
<strong>Structure of the human lipoprotein lipase gene.</strong>
|
|
Biochemistry 28: 4131-4135, 1989. Note: Erratum: Biochemistry 28: 6786 only, 1989.
|
|
|
|
|
|
[PubMed: 2765475]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1021/bi00436a001]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Devlin, R. H., Deeb, S., Brunzell, J., Hayden, M. R.
|
|
<strong>Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency.</strong>
|
|
Am. J. Hum. Genet. 46: 112-119, 1990.
|
|
|
|
|
|
[PubMed: 2294743]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Devlin, R., Henderson, H., Monsalve, V., Brunzell, J., Deeb, S., Hayden, M. R.
|
|
<strong>The molecular biology of hypertriglyceridemia: characterization of mutations in patients with lipoprotein lipase deficiency.(Abstract)</strong>
|
|
Am. J. Hum. Genet. 45 (suppl.): A4, 1989.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dichek, H. L., Fojo, S. S., Beg, O. U., Skarlatos, S. I., Brunzell, J. D., Cutler, G. B., Jr., Brewer, H. B., Jr.
|
|
<strong>Identification of 2 separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome.</strong>
|
|
J. Biol. Chem. 266: 473-477, 1991.
|
|
|
|
|
|
[PubMed: 1702428]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Emi, M., Asaoka, H., Matsumoto, A., Itakura, H., Kurihara, Y., Wada, Y., Kanamori, H., Yazaki, Y., Takahashi, E., Lepert, M., Lalouel, J.-M., Kodama, T., Mukai, T.
|
|
<strong>Structure, organization, and chromosomal mapping of the human macrophage scavenger receptor gene.</strong>
|
|
J. Biol. Chem. 268: 2120-2125, 1993.
|
|
|
|
|
|
[PubMed: 8093617]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Emi, M., Hata, A., Robertson, M., Iverius, P.-H., Hegele, R., Lalouel, J.-M.
|
|
<strong>Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene.</strong>
|
|
Am. J. Hum. Genet. 47: 107-111, 1990.
|
|
|
|
|
|
[PubMed: 2349938]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Emi, M., Wilson, D. E., Iverius, P.-H., Wu, L., Hata, A., Hegele, R., Williams, R. R., Lalouel, J.-M.
|
|
<strong>Missense mutation (gly-to-glu188) of human lipoprotein lipase imparting functional deficiency.</strong>
|
|
J. Biol. Chem. 265: 5910-5916, 1990.
|
|
|
|
|
|
[PubMed: 1969408]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Faustinella, F., Chang, A., Van Biervliet, J. P., Rosseneu, M., Vinaimont, N., Smith, L. C., Chen, S.-H., Chan, L.
|
|
<strong>Catalytic triad residue mutation (asp156-to-gly) causing familial lipoprotein lipase deficiency: co-inheritance with a nonsense mutation (ser447-to-ter) in a Turkish family.</strong>
|
|
J. Biol. Chem. 266: 14418-14424, 1991. Note: Erratum: J. Biol. Chem. 267: 7194 only, 1992.
|
|
|
|
|
|
[PubMed: 1907278]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fisher, R. M., Humphries, S. E., Talmud, P. J.
|
|
<strong>Common variation in the lipoprotein lipase gene: effects on plasma lipids and risk of atherosclerosis.</strong>
|
|
Atherosclerosis 135: 145-159, 1997.
|
|
|
|
|
|
[PubMed: 9430364]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0021-9150(97)00199-8]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Frikke-Schmidt, R., Sing, C. F., Nordestgaard, B. G., Steffensen, R., Tybjaerg-Hansen, A.
|
|
<strong>Subsets of SNPs define rare genotype classes that predict ischemic heart disease.</strong>
|
|
Hum. Genet. 120: 865-877, 2007.
|
|
|
|
|
|
[PubMed: 17006673]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00439-006-0233-y]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Funke, H., Klug, J., Assmann, G.
|
|
<strong>Hind III RFLP in the lipoprotein lipase gene, (LPL).</strong>
|
|
Nucleic Acids Res. 15: 9102, 1987.
|
|
|
|
|
|
[PubMed: 2891110]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/nar/15.21.9102]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Funke, H., Reckwerth, A., Stapenhorst, D., Schulze Beiering, M., Jansen, M., Assmann, G.
|
|
<strong>Bst NI (Eco RII) RFLP in the lipoprotein lipase gene (LPL).</strong>
|
|
Nucleic Acids Res. 16: 2741, 1988.
|
|
|
|
|
|
[PubMed: 2896338]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/nar/16.6.2741]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gagne, C., Brun, L. D., Julien, P., Moorjani, S., Lupien, P. J.
|
|
<strong>Primary lipoprotein lipase activity deficiency: clinical investigation of a French Canadian population.</strong>
|
|
Canad. Med. Assoc. J. 140: 405-411, 1989.
|
|
|
|
|
|
[PubMed: 2914262]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gilbert, B., Rouis, M., Griglio, S., de Lumley, L., Laplaud, P.-M.
|
|
<strong>Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation gly88-to-glu in the human LPL gene and review of reported mutations: 75% are clustered in exons 5 and 6.</strong>
|
|
Ann. Genet. 44: 25-32, 2001.
|
|
|
|
|
|
[PubMed: 11334614]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0003-3995(01)01037-1]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ginzinger, D. G., Lewis, M. E. S., Ma, Y., Jones, B. R., Liu, G., Jones, S. D., Hayden, M. R.
|
|
<strong>A mutation in the lipoprotein lipase gene is the molecular basis of chylomicronemia in a colony of domestic cats.</strong>
|
|
J. Clin. Invest. 97: 1257-1266, 1996.
|
|
|
|
|
|
[PubMed: 8636438]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI118541]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Goodarzi, M. O., Taylor, K. D., Guo, X., Hokanson, J. E., Haffner, S. M., Cui, J., Chen, Y.-D. I., Wagenknecht, L. E., Bergman, R. N., Rotter, J. I.
|
|
<strong>Haplotypes in the lipoprotein lipase gene influence fasting insulin and discovery of a new risk haplotype.</strong>
|
|
J. Clin. Endocr. Metab. 92: 293-296, 2007.
|
|
|
|
|
|
[PubMed: 17032721]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jc.2006-1195]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Goodarzi, M. O., Wong, H., Quinones, M. J., Taylor, K. D., Guo, X., Castellani, L. W., Antoine, H. J., Yang, H., Hsueh, W. A., Rotter, J. I.
|
|
<strong>The 3-prime untranslated region of the lipoprotein lipase gene: haplotype structure and association with post-heparin plasma lipase activity.</strong>
|
|
J. Clin. Endocr. Metab. 90: 4816-4823, 2005.
|
|
|
|
|
|
[PubMed: 15928243]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jc.2005-0389]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gotoda, T., Yamada, N., Kawamura, M., Kozaki, K., Mori, N., Ishibashi, S., Shimano, H., Takaku, F., Yazaki, Y., Furuichi, Y., Murase, T.
|
|
<strong>Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.</strong>
|
|
J. Clin. Invest. 88: 1856-1864, 1991.
|
|
|
|
|
|
[PubMed: 1752947]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI115507]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gotoda, T., Yamada, N., Murase, T., Miyake, S., Murakami, R., Kawamura, M., Kozaki, K., Mori, N., Shimano, H., Shimada, M., Yazaki, Y.
|
|
<strong>A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency.</strong>
|
|
Biochim. Biophys. Acta 1138: 353-356, 1992.
|
|
|
|
|
|
[PubMed: 1562620]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0925-4439(92)90015-f]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hata, A., Emi, M., Luc, G., Basdevant, A., Gambert, P., Iverius, P.-H., Lalouel, J.-M.
|
|
<strong>Compound heterozygote for lipoprotein lipase deficiency: ser-to-thr(244) and transition in 3-prime splice site of intron 2 (AG-to-AA) in the lipoprotein lipase gene.</strong>
|
|
Am. J. Hum. Genet. 47: 721-726, 1990.
|
|
|
|
|
|
[PubMed: 2121025]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hata, A., Ridinger, D. N., Sutherland, S. D., Emi, M., Kwong, L. K., Shuhua, J., Lubbers, A., Guy-Grand, B., Basdevant, A., Iverius, P. H., Wilson, D. E., Lalouel, J.-M.
|
|
<strong>Missense mutations in exon 5 of the human lipoprotein lipase gene: inactivation correlates with loss of dimerization.</strong>
|
|
J. Biol. Chem. 267: 20132-20139, 1992.
|
|
|
|
|
|
[PubMed: 1400331]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Haubenwallner, S., Horl, G., Shachter, N. S., Presta, E., Fried, S. K., Hofler, G., Kostner, G. M., Breslow, J. L., Zechner, R.
|
|
<strong>A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (asp180-to-glu) causes familial chylomicronemia (type I hyperlipoproteinemia).</strong>
|
|
Genomics 18: 392-396, 1993.
|
|
|
|
|
|
[PubMed: 8288243]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1993.1481]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Heinzmann, C., Ladias, J., Antonarakis, S., Kirchgessner, T., Schotz, M., Lusis, A. J.
|
|
<strong>RFLP for the human lipoprotein lipase (LPL) gene: HindIII.</strong>
|
|
Nucleic Acids Res. 15: 6763, 1987.
|
|
|
|
|
|
[PubMed: 2888089]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/nar/15.16.6763]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Heizmann, C., Kirchgessner, T., Kwiterovich, P. O., Ladias, J. A., Derby, C., Antonarakis, S. E., Lusis, A. J.
|
|
<strong>DNA polymorphism haplotypes of the human lipoprotein lipase gene: possible association with high density lipoprotein levels.</strong>
|
|
Hum. Genet. 86: 578-584, 1991.
|
|
|
|
|
|
[PubMed: 1673959]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00201544]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Henderson, H. E., Bijvoet, S. M., Mannens, M. A. M. M., Bruin, T., Erkelens, D. W., Hayden, M. R., Kastelein, J. J. P.
|
|
<strong>Ile225-to-thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event.</strong>
|
|
Am. J. Med. Genet. 78: 313-316, 1998.
|
|
|
|
|
|
[PubMed: 9714430]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19980724)78:4<313::aid-ajmg1>3.0.co;2-m]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Henderson, H. E., Hassan, F., Berger, G. M. B., Hayden, M. R.
|
|
<strong>The lipoprotein lipase gly188-to-glu mutation in South Africans of Indian descent: evidence suggesting common origins and an increased frequency.</strong>
|
|
J. Med. Genet. 29: 119-122, 1992.
|
|
|
|
|
|
[PubMed: 1351946]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.29.2.119]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Henderson, H. E., Hassan, F., Marais, D., Hayden, M. R.
|
|
<strong>A new mutation destroying disulphide bridging in the C-terminal domain of lipoprotein lipase.</strong>
|
|
Biochem. Biophys. Res. Commun. 227: 189-194, 1996.
|
|
|
|
|
|
[PubMed: 8858123]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/bbrc.1996.1487]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Henderson, H. E., Ma, Y., Hassan, M. F., Monsalve, M. V., Marais, A. D., Winkler, F., Gubernator, K., Peterson, J., Brunzell, J. D., Hayden, M. R.
|
|
<strong>Amino acid substitution (ile194-to-thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands: support for a multicentric origin.</strong>
|
|
J. Clin. Invest. 87: 2005-2011, 1991.
|
|
|
|
|
|
[PubMed: 1674945]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI115229]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hoffmann, M. M., Jacob, S., Luft, D., Schmulling, R.-M., Rett, K., Marz, W., Haring, H.-U., Matthaei, S.
|
|
<strong>Type I hyperlipoproteinemia due to a novel loss of function mutation of lipoprotein lipase, cys239-trp, associated with recurrent severe pancreatitis.</strong>
|
|
J. Clin. Endocr. Metab. 85: 4795-4798, 2000.
|
|
|
|
|
|
[PubMed: 11134145]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jcem.85.12.7069]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ishimura-Oka, K., Faustinella, F., Kihara, S., Smith, L. C., Oka, K., Chan, L.
|
|
<strong>A missense mutation (trp86-to-arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia.</strong>
|
|
Am. J. Hum. Genet. 50: 1275-1280, 1992.
|
|
|
|
|
|
[PubMed: 1598907]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kastelein, J. J. P., Groenemeyer, B. E., Hallman, D. M., Henderson, H., Reymer, P. W. A., Gagne, S. E., Jansen, H., Seidell, J. C., Kromhout, D., Jukema, J. W., Bruschke, A. V. G., Boerwinkle, E., Hayden, M. R., The Regress Study Group.
|
|
<strong>The asn9 variant of lipoprotein lipase is associated with the -93G promoter mutation and an increased risk of coronary artery disease.</strong>
|
|
Clin. Genet. 53: 27-33, 1998.
|
|
|
|
|
|
[PubMed: 9550358]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1034/j.1399-0004.1998.531530106.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kathiresan, S., Melander, O., Anevski, D., Guiducci, C., Burtt, N. P., Roos, C., Hirschhorn, J. N., Berglund, G., Hedblad, B., Groop, L., Altshuler, D. M., Newton-Cheh, C., Orho-Melander, M.
|
|
<strong>Polymorphisms associated with cholesterol and risk of cardiovascular events.</strong>
|
|
New Eng. J. Med. 358: 1240-1249, 2008.
|
|
|
|
|
|
[PubMed: 18354102]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMoa0706728]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kawashiri, M., Higashikata, T., Mizuno, M., Takata, M., Katsuda, S., Miwa, K., Nozue, T., Nohara, A., Inazu, A., Kobayashi, J., Koizumi, J., Mabuchi, H.
|
|
<strong>Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL-Arita in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis.</strong>
|
|
J. Clin. Endocr. Metab. 90: 6541-6544, 2005.
|
|
|
|
|
|
[PubMed: 16174715]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jc.2005-1098]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kim, M. S., Wang, F., Puthanveetil, P., Kewalramani, G., Hosseini-Beheshti, E., Ng, N., Wang, Y., Kumar, U., Innis, S., Proud, C. G., Abrahani, A., Rodrigues, B.
|
|
<strong>Protein kinase D is a key regulator of cardiomyocyte lipoprotein lipase secretion after diabetes.</strong>
|
|
Circ. Res. 103: 252-260, 2008.
|
|
|
|
|
|
[PubMed: 18583709]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1161/CIRCRESAHA.108.178681]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kim, Y. J., Go, M. J., Hu, C., Hong, C. B., Kim, Y. K., Lee, J. Y., Hwang, J.-Y., Oh, J. H., Kim, D.-J., Kim, N. H., Kim, S., Hong, E. J., and 22 others.
|
|
<strong>Large-scale genome-wide association studies in east Asians identify new genetic loci influencing metabolic traits.</strong>
|
|
Nature Genet. 43: 990-995, 2011.
|
|
|
|
|
|
[PubMed: 21909109]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng.939]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kirchgessner, T. G., Chuat, J.-C., Heinzmann, C., Etienne, J., Guilhot, S., Svenson, K., Ameis, D., Pilon, C., d'Auriol, L., Andalibi, A., Schotz, M. C., Galibert, F., Lusis, A. J.
|
|
<strong>Organization of the human lipoprotein lipase gene and evolution of the lipase gene family.</strong>
|
|
Proc. Nat. Acad. Sci. 86: 9647-9651, 1989.
|
|
|
|
|
|
[PubMed: 2602366]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.86.24.9647]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kirchgessner, T. G., Svenson, K. L., Lusis, A. J., Schotz, M. C.
|
|
<strong>The sequence of cDNA encoding lipoprotein lipase: a member of a lipase gene family.</strong>
|
|
J. Biol. Chem. 262: 8463-8466, 1987.
|
|
|
|
|
|
[PubMed: 3597382]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kobayashi, J., Nishida, T., Ameis, D., Stahnke, G., Schotz, M. C., Hashimoto, H., Fukamachi, I., Shirai, K., Saito, Y., Yoshida, S.
|
|
<strong>A heterozygous mutation (the codon for ser477 to a stop codon) in lipoprotein lipase contributes to a defect in lipid interface recognition in a case with type I hyperlipidemia.</strong>
|
|
Biochem. Biophys. Res. Commun. 182: 70-77, 1992.
|
|
|
|
|
|
[PubMed: 1731801]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0006-291x(05)80113-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kobayashi, J., Sasaki, N., Tashiro, J., Inadera, H., Saito, Y., Yoshida, S.
|
|
<strong>A missense mutation (ala334-to-thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia.</strong>
|
|
Biochem. Biophys. Res. Commun. 191: 1046-1054, 1993.
|
|
|
|
|
|
[PubMed: 8096693]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/bbrc.1993.1323]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Langlois, S., Deeb, S., Brunzell, J. D., Kastelein, J. J., Hayden, M. R.
|
|
<strong>A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency.</strong>
|
|
Proc. Nat. Acad. Sci. 86: 948-952, 1989.
|
|
|
|
|
|
[PubMed: 2536938]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.86.3.948]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Langlois, S., Deeb, S., Brunzell, J., Kastelein, J. J., Hayden, M. R.
|
|
<strong>A unique insertion accounts for a significant proportion of the mutations in the lipoprotein lipase (LPL) gene.(Abstract)</strong>
|
|
Am. J. Hum. Genet. 43: A191, 1988.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Levak-Frank, S., Radner, H., Walsh, A., Stollberger, R., Knipping, G., Hoefler, G., Sattler, W., Weinstock, P. H., Breslow, J. L., Zechner, R.
|
|
<strong>Muscle-specific overexpression of lipoprotein lipase causes a severe myopathy characterized by proliferation of mitochondria and peroxisomes in transgenic mice.</strong>
|
|
J. Clin. Invest. 96: 976-986, 1995.
|
|
|
|
|
|
[PubMed: 7635990]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI118145]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Li, S., Oka, K., Galton, D., Stocks, J.
|
|
<strong>Pvu-II RFLP at the human lipoprotein lipase (LPL) gene locus.</strong>
|
|
Nucleic Acids Res. 16: 2358, 1988.
|
|
|
|
|
|
[PubMed: 2895912]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/nar/16.5.2358]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ling, C., Svensson, L., Oden, B., Weijdegard, B., Eden, B., Eden, S., Billig, H.
|
|
<strong>Identification of functional prolactin (PRL) receptor gene expression: PRL inhibits lipoprotein lipase activity in human white adipose tissue.</strong>
|
|
J. Clin. Endocr. Metab. 88: 1804-1808, 2003.
|
|
|
|
|
|
[PubMed: 12679477]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jc.2002-021137]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lo, J. Y., Smith, L. C., Chan, L.
|
|
<strong>Lipoprotein lipase: role of intramolecular disulfide bonds in enzyme catalysis.</strong>
|
|
Biochem. Biophys. Res. Commun. 206: 266-271, 1995.
|
|
|
|
|
|
[PubMed: 7818530]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/bbrc.1995.1037]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lopez-Miranda, J., Cruz, G., Gomez, P., Marin, C., Paz, E., Perez-Martinez, P., Fuentes, F. J., Ordovas, J. M., Perez-Jimenez, F.
|
|
<strong>The influence of lipoprotein lipase gene variation on postprandial lipoprotein metabolism.</strong>
|
|
J. Clin. Endocr. Metab. 89: 4721-4728, 2004.
|
|
|
|
|
|
[PubMed: 15356086]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jc.2003-031642]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ma, Y., Henderson, H. E., Ven Murthy, M. R., Roederer, G., Monsalve, M. V., Clarke, L. A., Normand, T., Julien, P., Gagne, C., Lambert, M., Davignon, J., Lupien, P. J., Brunzell, J., Hayden, M. R.
|
|
<strong>A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians.</strong>
|
|
New Eng. J. Med. 324: 1761-1766, 1991.
|
|
|
|
|
|
[PubMed: 2038366]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM199106203242502]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ma, Y., Liu, M.-S., Chitayat, D., Bruin, T., Beisiegel, U., Benlian, P., Foubert, L., De Gennes, J. L., Funke, H., Forsythe, I., Blaichman, S., Papanikolaou, M., Erkelens, D. W., Kastelein, J., Brunzell, J. D., Hayden, M. R.
|
|
<strong>Recurrent missense mutations at the first and second base of codon arg243 in human lipoprotein lipase in patients of different ancestries.</strong>
|
|
Hum. Mutat. 3: 52-58, 1994.
|
|
|
|
|
|
[PubMed: 7906986]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.1380030109]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ma, Y., Liu, M.-S., Ginzinger, D., Frohlich, J., Brunzell, J. D., Hayden, M. R.
|
|
<strong>Gene-environment interaction in the conversion of a mild-to-severe phenotype in a patient homozygous for a ser172-to-cys mutation in the lipoprotein lipase gene.</strong>
|
|
J. Clin. Invest. 91: 1953-1958, 1993.
|
|
|
|
|
|
[PubMed: 8486765]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI116414]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ma, Y., Wilson, B. I., Bijvoet, S., Henderson, H. E., Cramb, E., Roederer, G., Ven Murthy, M. R., Julien, P., Bakker, H. D., Kastelein, J. J. P., Brunzell, J. D., Hayden, M. R.
|
|
<strong>A missense mutation (asp250-to-asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries.</strong>
|
|
Genomics 13: 649-653, 1992.
|
|
|
|
|
|
[PubMed: 1639392]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(92)90136-g]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mailly, F., Palmen, J., Muller, D. P. R., Gibbs, T., Lloyd, J., Brunzell, J., Durrington, P., Mitropoulos, K., Betteridge, J., Watts, G., Lithell, H., Angelico, F., Humphries, S. E., Talmud, P. J.
|
|
<strong>Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy.</strong>
|
|
Hum. Mutat. 10: 465-473, 1997.
|
|
|
|
|
|
[PubMed: 9401010]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1997)10:6<465::AID-HUMU8>3.0.CO;2-C]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mattei, M. G., Etienne, J., Chuat, J. C., Nguyen, V. C., Brault, D., Bernheim, A., Galibert, F.
|
|
<strong>Assignment of the human lipoprotein lipase (LPL) gene to chromosome band 8p22.</strong>
|
|
Cytogenet. Cell Genet. 63: 45-46, 1993.
|
|
|
|
|
|
[PubMed: 8449037]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000133499]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Miesenbock, G., Holzl, B., Foger, B., Brandstatter, E., Paulweber, B., Sandhofer, F., Patsch, J. R.
|
|
<strong>Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities.</strong>
|
|
J. Clin. Invest. 91: 448-455, 1993.
|
|
|
|
|
|
[PubMed: 8432854]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI116222]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Monsalve, M. V., Henderson, H., Roederer, G., Julien, P., Deeb, S., Kastelein, J. J. P., Peritz, L., Devlin, R., Bruin, T., Murthy, M. R. V., Gagne, C., Davignon, J., Lupien, P. J., Brunzell, J. D., Hayden, M. R.
|
|
<strong>A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries.</strong>
|
|
J. Clin. Invest. 86: 728-734, 1990.
|
|
|
|
|
|
[PubMed: 1975597]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI114769]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nevin, D. N., Brunzell, J. D., Deeb, S. S.
|
|
<strong>The LPL gene in individuals with familial combined hyperlipidemia and decreased LPL activity.</strong>
|
|
Arterioscler. Thromb. 14: 869-873, 1994.
|
|
|
|
|
|
[PubMed: 8199176]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1161/01.atv.14.6.869]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nickerson, D. A., Taylor, S. L., Weiss, K. M., Clark, A. G., Hutchinson, R. G., Stengard, J., Salomaa, V., Vartiainen, E., Boerwinkle, E., Sing, C. F.
|
|
<strong>DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene.</strong>
|
|
Nature Genet. 19: 233-240, 1998.
|
|
|
|
|
|
[PubMed: 9662394]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/907]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Normand, T., Bergeron, J., Fernandez-Margallo, T., Bharucha, A., Ven Murthy, M. R., Julien, P., Gagne, C., Dionne, C., De Braekeleer, M., Ma, R., Hayden, M. R., Lupien, P. J.
|
|
<strong>Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Quebec.</strong>
|
|
Hum. Genet. 89: 671-675, 1992.
|
|
|
|
|
|
[PubMed: 1511985]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00221960]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Paulweber, B., Wiebusch, H., Miesenboeck, G., Funke, H., Assmann, G., Hoelzl, B., Sippl, M. J., Friedl, W., Patsch, J. R., Sandhofer, F.
|
|
<strong>Molecular basis of lipoprotein lipase deficiency in two Austrian families with type I hyperlipoproteinemia.</strong>
|
|
Atherosclerosis 86: 239-250, 1991.
|
|
|
|
|
|
[PubMed: 1872917]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0021-9150(91)90220-w]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pepe, G., Chimienti, G., Resta, F., Di Perna, V., Tarricone, C., Lovecchio, M., Colacicco, A. M., Capurso, A.
|
|
<strong>A new Italian case of lipoprotein lipase deficiency: a leu365-to-val change resulting in loss of enzyme activity.</strong>
|
|
Biochem. Biophys. Res. Commun. 199: 570-576, 1994.
|
|
|
|
|
|
[PubMed: 8135797]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/bbrc.1994.1266]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pruneta-Deloche, V., Marcais, C., Perrot, L., Sassolas, A., Delay, M., Estour, B., Lagarde, M., Moulin, P.
|
|
<strong>Combination of circulating antilipoprotein lipase (anti-LPL) antibody and heterozygous S172fsX179 mutation of LPL gene leading to chronic hyperchylomicronemia.</strong>
|
|
J. Clin. Endocr. Metab. 90: 3995-3998, 2005.
|
|
|
|
|
|
[PubMed: 15840743]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jc.2005-0205]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Reymer, P. W. A., Groenemeyer, B. E., Gagne, E., Miao, L., Appelman, E. E. G., Seidel, J. C., Kromhout, D., Bijvoet, S. M., van de Oever, K., Bruin, T., Hayden, M. R., Kastelein, J. J. P.
|
|
<strong>A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia.</strong>
|
|
Hum. Molec. Genet. 4: 1543-1549, 1995.
|
|
|
|
|
|
[PubMed: 8541837]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/4.9.1543]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Richardson, K., Nettleton, J. A., Rotllan, N., Tanaka, T., Smith, C. E., Lai, C.-Q., Parnell, L. D., Lee, Y.-C., Lahti, J., Lemaitre, R. N., Manichaikul, A., Keller, M., and 34 others.
|
|
<strong>Gain-of-function lipoprotein lipase variant {dbSNP rs13702} modulates lipid traits through disruption of a microRNA-410 seed site.</strong>
|
|
Am. J. Hum. Genet. 92: 5-14, 2013.
|
|
|
|
|
|
[PubMed: 23246289]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2012.10.020]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Samuels, M. E., Forbey, K. C., Reid, J. E., Abkevich, V., Bulka, K., Wardell, B. R., Bowen, B. R., Hopkins, P. N., Hunt, S. C., Ballinger, D. G., Skolnick, M. H., Wagner, S.
|
|
<strong>Identification of a common variant in the lipoprotein lipase gene in a large Utah kindred ascertained for coronary heart disease: the -93G/D9N variant predisposes to low HDL-C/high triglycerides.</strong>
|
|
Clin. Genet. 59: 88-98, 2001.
|
|
|
|
|
|
[PubMed: 11260209]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1034/j.1399-0004.2001.590205.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sparkes, R. S., Zollman, S., Klisak, I., Kirchgessner, T. G., Komaromy, M. C., Mohandas, T., Schotz, M. C., Lusis, A. J.
|
|
<strong>Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21.</strong>
|
|
Genomics 1: 138-144, 1987.
|
|
|
|
|
|
[PubMed: 3692485]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(87)90005-x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Spirin, V., Schmidt, S., Pertsemlidis, A., Cooper, R. S., Cohen, J. C., Sunyaev, S. R.
|
|
<strong>Common single-nucleotide polymorphisms act in concert to affect plasma levels of high-density lipoprotein cholesterol.</strong>
|
|
Am. J. Hum. Genet. 81: 1298-1303, 2007.
|
|
|
|
|
|
[PubMed: 17952847]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/522497]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sprecher, D. L., Kobayashi, J., Rymaszewski, M., Goldberg, I. J., Harris, B. V., Bellet, P. S., Ameis, D., Yunker, R. L., Black, D. M., Stein, E. A., Schotz, M. C., Wiginton, D. A.
|
|
<strong>Trp64-to-nonsense mutation in the lipoprotein lipase gene.</strong>
|
|
J. Lipid Res. 33: 859-866, 1992.
|
|
|
|
|
|
[PubMed: 1512512]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Takagi, A., Ikeda, Y., Tsutsumi, Z., Shoji, T., Yamamoto, A.
|
|
<strong>Molecular studies on primary lipoprotein lipase (LPL) deficiency: one base deletion (G-916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript.</strong>
|
|
J. Clin. Invest. 89: 581-591, 1992.
|
|
|
|
|
|
[PubMed: 1737848]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI115624]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Weinstock, P. H., Bisgaier, C. L., Aalto-Setala, K., Radner, H., Ramakrishnan, R., Levak-Frank, S., Essenburg, A. D., Zechner, R., Breslow, J. L.
|
|
<strong>Severe hypertriglyceridemia, reduced high density lipoprotein, and neonatal death in lipoprotein lipase knockout mice: mild hypertriglyceridemia with impaired very low density lipoprotein clearance in heterozygotes.</strong>
|
|
J. Clin. Invest. 96: 2555-2568, 1995.
|
|
|
|
|
|
[PubMed: 8675619]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI118319]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wilson, D. E., Edwards, C. Q., Chan, I.-F.
|
|
<strong>Phenotypic heterogeneity in the extended pedigree of a proband with lipoprotein lipase deficiency.</strong>
|
|
Metabolism 32: 1107-1114, 1983.
|
|
|
|
|
|
[PubMed: 6645961]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0026-0495(83)90056-2]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wilson, D. E., Emi, M., Iverius, P.-H., Hata, A., Wu, L. L., Hillas, E., Williams, R. R., Lalouel, J.-M.
|
|
<strong>Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation.</strong>
|
|
J. Clin. Invest. 86: 735-750, 1990.
|
|
|
|
|
|
[PubMed: 2394828]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI114770]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wilson, D. E., Hata, A., Kwong, L. K., Lingam, A., Shuhua, J., Ridinger, D. N., Yeager, C., Kaltenborn, K. C., Iverius, P.-H., Lalouel, J.-M.
|
|
<strong>Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes.</strong>
|
|
J. Clin. Invest. 92: 203-211, 1993.
|
|
|
|
|
|
[PubMed: 8325986]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI116551]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wion, K. L., Kirchgessner, T. G., Lusis, A. J., Schotz, M. C., Lawn, R. M.
|
|
<strong>Human lipoprotein lipase complementary DNA sequence.</strong>
|
|
Science 235: 1638-1641, 1987.
|
|
|
|
|
|
[PubMed: 3823907]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.3823907]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wittrup, H. H., Andersen, R. V., Tybjaerg-Hansen, A., Jensen, G. B., Nordestgaard, B. G.
|
|
<strong>Combined analysis of six lipoprotein lipase genetic variants on triglycerides, high-density lipoprotein, and ischemic heart disease: cross-sectional, prospective, and case-control studies from the Copenhagen City Heart Study.</strong>
|
|
J. Clin. Endocr. Metab. 91: 1438-1445, 2006.
|
|
|
|
|
|
[PubMed: 16418216]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jc.2005-1725]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wittrup, H. H., Tybjaerg-Hansen, A., Abildgaard, S., Steffensen, R., Schnohr, P., Nordestgaard, B. G.
|
|
<strong>A common substitution (asn291ser) in lipoprotein lipase is associated with increased risk of ischemic heart disease.</strong>
|
|
J. Clin. Invest. 99: 1606-1613, 1997.
|
|
|
|
|
|
[PubMed: 9120004]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI119323]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wittrup, H. H., Tybjaerg-Hansen, A., Steffensen, R., Deeb, S. S., Brunzell, J. D., Jensen, G., Nordestgaard, B. G.
|
|
<strong>Mutations in the lipoprotein lipase gene associated with ischemic heart disease in men: the Copenhagen City Heart Study.</strong>
|
|
Arterioscler. Thromb. Vasc. Biol. 19: 1535-1540, 1999.
|
|
|
|
|
|
[PubMed: 10364086]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1161/01.atv.19.6.1535]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wood, S., Schertzer, M., Hayden, M., Ma, Y.
|
|
<strong>Support for founder effect for two lipoprotein lipase (LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene.</strong>
|
|
Hum. Genet. 91: 312-316, 1993.
|
|
|
|
|
|
[PubMed: 8099055]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00217348]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yagyu, H., Chen, G., Yokoyama, M., Hirata, K., Augustus, A., Kako, Y., Seo, T., Hu, Y., Lutz, E. P., Merkel, M., Bensadoun, A., Homma, S., Goldberg, I. J.
|
|
<strong>Lipoprotein lipase (LpL) on the surface of cardiomyocytes increases lipid uptake and produces a cardiomyopathy.</strong>
|
|
J. Clin. Invest. 111: 419-426, 2003.
|
|
|
|
|
|
[PubMed: 12569168]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI16751]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yang, W., Huang, J., Ge, D., Yao, C., Duan, X., Shen, Y., Qiang, B., Gu, D.
|
|
<strong>Lipoprotein lipase gene is in linkage with blood pressure phenotypes in Chinese pedigrees.</strong>
|
|
Hum. Genet. 115: 8-12, 2004.
|
|
|
|
|
|
[PubMed: 15127290]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00439-004-1108-8]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yang, W.-S., Nevin, D. N., Peng, R., Brunzell, J. D., Deeb, S. S.
|
|
<strong>A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity.</strong>
|
|
Proc. Nat. Acad. Sci. 92: 4462-4466, 1995. Note: Erratum: Proc. Nat. Acad. Sci. 93: 524 only, 1996.
|
|
|
|
|
|
[PubMed: 7753827]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.92.10.4462]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Zhao, T., Guo, J., Li, H., Huang, W., Xian, X., Ross, C. J. D., Hayden, M. R., Wen, Z., Liu, G.
|
|
<strong>Hemorheological abnormalities in lipoprotein lipase deficient mice with severe hypertriglyceridemia.</strong>
|
|
Biochem. Biophys. Res. Commun. 341: 1066-1071, 2006.
|
|
|
|
|
|
[PubMed: 16460682]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.bbrc.2006.01.067]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Patricia A. Hartz - updated : 1/31/2014<br>Ada Hamosh - updated : 2/25/2013<br>Ada Hamosh - updated : 6/26/2012<br>Ada Hamosh - updated : 1/21/2010<br>Patricia A. Hartz - updated : 8/31/2009<br>Marla J. F. O'Neill - updated : 2/12/2009<br>Ada Hamosh - updated : 5/23/2008<br>Ada Hamosh - updated : 4/1/2008<br>John A. Phillips, III - updated : 12/17/2007<br>Victor A. McKusick - updated : 11/28/2007<br>Victor A. McKusick - updated : 9/18/2007<br>John A. Phillips, III - updated : 5/22/2007<br>John A. Phillips, III - updated : 5/15/2007<br>John A. Phillips, III - updated : 3/19/2007<br>Marla J. F. O'Neill - updated : 11/30/2006<br>John A. Phillips, III - updated : 10/19/2006<br>Marla J. F. O'Neill - updated : 9/8/2006
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Anne M. Stumpf : 11/14/2005
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Edit History:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 01/07/2025<br>carol : 09/25/2022<br>carol : 06/04/2019<br>carol : 05/30/2019<br>carol : 05/15/2019<br>carol : 05/14/2019<br>carol : 06/29/2018<br>alopez : 12/11/2017<br>carol : 06/13/2016<br>alopez : 2/24/2015<br>carol : 2/19/2014<br>mgross : 1/31/2014<br>mgross : 1/31/2014<br>alopez : 2/26/2013<br>terry : 2/25/2013<br>terry : 8/17/2012<br>terry : 7/6/2012<br>alopez : 6/27/2012<br>terry : 6/26/2012<br>carol : 5/16/2012<br>terry : 10/26/2011<br>alopez : 5/20/2011<br>joanna : 4/27/2010<br>alopez : 1/21/2010<br>alopez : 1/21/2010<br>mgross : 9/4/2009<br>terry : 8/31/2009<br>carol : 4/21/2009<br>carol : 2/13/2009<br>carol : 2/12/2009<br>alopez : 5/28/2008<br>terry : 5/23/2008<br>carol : 4/1/2008<br>carol : 12/17/2007<br>alopez : 12/13/2007<br>terry : 11/28/2007<br>alopez : 11/12/2007<br>alopez : 9/20/2007<br>terry : 9/18/2007<br>alopez : 5/22/2007<br>alopez : 5/15/2007<br>carol : 3/19/2007<br>carol : 11/30/2006<br>alopez : 10/19/2006<br>wwang : 9/12/2006<br>terry : 9/8/2006<br>alopez : 11/15/2005<br>alopez : 11/15/2005<br>alopez : 11/14/2005
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div id="mimFooter">
|
|
|
|
|
|
<div class="container ">
|
|
<div class="row">
|
|
<br />
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="hidden-print mim-footer">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="visible-print-block mim-footer" style="position: relative;">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
<br />
|
|
Printed: March 5, 2025
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="modal fade" id="mimDonationPopupModal" tabindex="-1" role="dialog" aria-labelledby="mimDonationPopupModalTitle">
|
|
<div class="modal-dialog" role="document">
|
|
<div class="modal-content">
|
|
<div class="modal-header">
|
|
<button type="button" id="mimDonationPopupCancel" class="close" data-dismiss="modal" aria-label="Close"><span aria-hidden="true">×</span></button>
|
|
<h4 class="modal-title" id="mimDonationPopupModalTitle">
|
|
OMIM Donation:
|
|
</h4>
|
|
</div>
|
|
<div class="modal-body">
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Dear OMIM User,
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
To ensure long-term funding for the OMIM project, we have diversified
|
|
our revenue stream. We are determined to keep this website freely
|
|
accessible. Unfortunately, it is not free to produce. Expert curators
|
|
review the literature and organize it to facilitate your work. Over 90%
|
|
of the OMIM's operating expenses go to salary support for MD and PhD
|
|
science writers and biocurators. Please join your colleagues by making a
|
|
donation now and again in the future. Donations are an important
|
|
component of our efforts to ensure long-term funding to provide you the
|
|
information that you need at your fingertips.
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Thank you in advance for your generous support, <br />
|
|
Ada Hamosh, MD, MPH <br />
|
|
Scientific Director, OMIM <br />
|
|
</p>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div class="modal-footer">
|
|
<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
</body>
|
|
|
|
</html>
|
|
|
|
|