nih-gov/www.ncbi.nlm.nih.gov/omim/611598

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Entry
- %611598 - CELIAC DISEASE, SUSCEPTIBILITY TO, 6; CELIAC6
- OMIM
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<span class="h4">%611598</span>
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="/phenotypicSeries/PS212750"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#mapping">Mapping</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="http://biogps.org/#goto=genereport&id=100188846" 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.genome.jp/dbget-bin/www_bget?hsa+100188846" 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://www.ncbi.nlm.nih.gov/gene/100188846" 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>
</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=" 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;">&#9660;</div>
&nbsp;
<div style="display: table-cell;">Clinical Resources</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
<div class="panel-body small mim-panel-body">
<div><a href="https://clinicaltrials.gov/search?cond=CELIAC DISEASE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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</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">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
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</span>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="http://www.informatics.jax.org/disease/611598" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:10608" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</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.">
&nbsp;
</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>DO:</strong> 10608<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description or locus, molecular basis unknown">
<span class="text-danger"><strong>%</strong></span>
611598
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
CELIAC DISEASE, SUSCEPTIBILITY TO, 6; CELIAC6
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 6
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="includedTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
Other entities represented in this entry:
</span>
</p>
</div>
<div>
<span class="h3 mim-font">
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 5, INCLUDED; AIS5, INCLUDED
</span>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="cytogeneticLocation" class="mim-anchor"></a>
<p>
<span class="mim-text-font">
<strong>
<em>
Cytogenetic location: <a href="/geneMap/4/519?start=-3&limit=10&highlight=519">4q27</a>
&nbsp;
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr4:119900001-122800000&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'})">4:119,900,001-122,800,000</a> </span>
</em>
</strong>
</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
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
</tr>
</thead>
<tbody>
<tr>
<td rowspan="2">
<span class="mim-font">
<a href="/geneMap/4/519?start=-3&limit=10&highlight=519">
4q27
</a>
</span>
</td>
<td>
<span class="mim-font">
{Autoimmune disease, susceptibility to, 5}
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611598"> 611598 </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods">2</abbr>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
{Celiac disease, susceptibility to, 6}
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611598"> 611598 </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods">2</abbr>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group">
<a href="/phenotypicSeries/PS212750" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<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/611598" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/611598" 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>
<p />
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Celiac disease
- <a href="/phenotypicSeries/PS212750">PS212750</a>
- 15 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1504?start=-3&limit=10&highlight=1504"> 1q31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612005"> {Celiac disease, susceptibility to, 7} </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612005"> 612005 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612005"> CELIAC7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612005"> 612005 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/460?start=-3&limit=10&highlight=460"> 2q11-q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612006"> {Celiac disease, susceptibility to, 8} </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612006"> 612006 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612006"> CELIAC8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612006"> 612006 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/934?start=-3&limit=10&highlight=934"> 2q33.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609755"> {Celiac disease, susceptibility to, 3} </a>
</span>
</td>
<td>
<span class="mim-font">
</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>
<td>
<span class="mim-font">
<a href="/entry/609755"> 609755 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123890"> CTLA4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123890"> 123890 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/217?start=-3&limit=10&highlight=217"> 3p21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612007"> {Celiac disease, susceptibility to, 9} </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612007"> 612007 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612007"> CELIAC9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612007"> 612007 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/769?start=-3&limit=10&highlight=769"> 3q25-q26 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612008"> {Celiac disease, susceptibility to, 10} </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612008"> 612008 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612008"> CELIAC10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612008"> 612008 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/954?start=-3&limit=10&highlight=954"> 3q28 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612009"> {Celiac disease, susceptibility to, 11} </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612009"> 612009 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612009"> CELIAC11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612009"> 612009 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/519?start=-3&limit=10&highlight=519"> 4q27 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611598"> {Autoimmune disease, susceptibility to, 5} </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611598"> 611598 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611598"> CELIAC6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611598"> 611598 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/519?start=-3&limit=10&highlight=519"> 4q27 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611598"> {Celiac disease, susceptibility to, 6} </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611598"> 611598 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611598"> CELIAC6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611598"> 611598 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/423?start=-3&limit=10&highlight=423"> 5q31-q33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609754"> {Celiac disease, susceptibility to, 2} </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609754"> 609754 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609754"> CELIAC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609754"> 609754 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/368?start=-3&limit=10&highlight=368"> 6p21.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/212750"> {Celiac disease, susceptibility to} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</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>
<td>
<span class="mim-font">
<a href="/entry/212750"> 212750 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146880"> HLA-DQA1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146880"> 146880 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/369?start=-3&limit=10&highlight=369"> 6p21.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/212750"> {Celiac disease, susceptibility to} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</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>
<td>
<span class="mim-font">
<a href="/entry/212750"> 212750 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604305"> HLA-DQB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604305"> 604305 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/974?start=-3&limit=10&highlight=974"> 6q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612010"> {Celiac disease, susceptibility to, 12} </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612010"> 612010 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612010"> CELIAC12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612010"> 612010 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/772?start=-3&limit=10&highlight=772"> 12q24 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612011"> {Celiac disease, susceptibility to, 13} </a>
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<a href="/entry/612011"> 612011 </a>
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<a href="/entry/612011"> CELIAC13 </a>
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<a href="/entry/612011"> 612011 </a>
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<a href="/geneMap/15/2?start=-3&limit=10&highlight=2"> 15q11-q13 </a>
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<a href="/entry/607202"> {Celiac disease, susceptibility to, 5} </a>
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<a href="/entry/607202"> 607202 </a>
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<a href="/entry/607202"> CELIAC5 </a>
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<a href="/entry/607202"> 607202 </a>
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<a href="/geneMap/19/316?start=-3&limit=10&highlight=316"> 19p13.1 </a>
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<a href="/entry/609753"> {Celiac disease, susceptibility to, 4} </a>
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<abbr class="mim-tip-hint" title="Multifactorial">Mu</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/609753"> 609753 </a>
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<a href="/entry/609753"> CELIAC4 </a>
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<span class="mim-font">
<a href="/entry/609753"> 609753 </a>
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<strong>TEXT</strong>
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<p>Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by <a href="#1" class="mim-tip-reference" title="Farrell, R. J., Kelly, C. P. &lt;strong&gt;Celiac sprue.&lt;/strong&gt; New Eng. J. Med. 346: 180-188, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11796853/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11796853&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMra010852&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11796853">Farrell and Kelly, 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11796853" 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>For additional information and a discussion of genetic heterogeneity of celiac disease, see <a href="/entry/212750">212750</a>.</p><p>For a discussion of autoimmunity, see <a href="/entry/109100">109100</a>.</p>
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<p>A susceptibility to celiac disease (CELIAC6) and to autoimmunity (AIS5) has been mapped to the 4q27 region, within a linkage disequilibrium (LD) block encompassing the KIAA1109 (<a href="/entry/611565">611565</a>), TENR (ADAD1), IL2 (<a href="/entry/147680">147680</a>), and IL21 (<a href="/entry/605384">605384</a>) genes.</p><p><strong><em>Celiac Disease Susceptibility</em></strong></p><p>
In a genomewide study to identify predisposing factors in celiac disease (CD), <a href="#6" class="mim-tip-reference" title="van Heel, D. A., Franke, L., Hunt, K. A., Gwilliam, R., Zhernakova, A., Inouye, M., Wapenaar, M. C., Barnardo, M. C. N. M., Bethel, G., Holmes, G. K. T., Feighery, C., Jewell, D., and 16 others. &lt;strong&gt;A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.&lt;/strong&gt; Nature Genet. 39: 827-829, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17558408/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17558408&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng2058&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17558408">Van Heel et al. (2007)</a> identified genetic variation in a linkage disequilibrium (LD) block encompassing the KIAA1109, TENR (ADAD1), IL2, and IL21 genes as a susceptibility factor for CD. Using 310,605 genomewide SNPs in 778 individuals from the United Kingdom (UK) with CD and 1,422 UK controls, they achieved the most significant linkage outside the HLA region (see <a href="/entry/146880">146880</a>) at <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs13119723;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs13119723</a> (P = 2.0 x 10(-7)) in the KIAA1109 gene (<a href="/entry/611565">611565</a>) on chromosome 4q27. The association was confirmed in 2 further collections, 508 Dutch CD patients and 929 controls and 483 Irish CD patients and 560 controls (metaanalysis P = 4.8 x 10(-11)). The strongest association overall was achieved at <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs6822844;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs6822844</a> (metaanalysis P = 1.3 x 10(-14)) located 25 kb 5-prime of the IL21 gene. <a href="#6" class="mim-tip-reference" title="van Heel, D. A., Franke, L., Hunt, K. A., Gwilliam, R., Zhernakova, A., Inouye, M., Wapenaar, M. C., Barnardo, M. C. N. M., Bethel, G., Holmes, G. K. T., Feighery, C., Jewell, D., and 16 others. &lt;strong&gt;A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.&lt;/strong&gt; Nature Genet. 39: 827-829, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17558408/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17558408&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng2058&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17558408">Van Heel et al. (2007)</a> concluded that genetic variation at chromosome 4q27, in an LD block spanning the KIAA1109, TENR (ADAD1), IL2, and IL21 genes, predisposes to CD. The authors stated that because of extensive LD the causal variant associated with CD in the 4q27 region could not be determined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17558408" 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 separate replication sample comprising 1,643 celiac cases and 3,406 controls from 3 independent European celiac disease collections, <a href="#2" class="mim-tip-reference" title="Hunt, K. A., Zhernakova, A., Turner, G., Heap, G. A. R., Franke, L., Bruinenberg, M., Romanos, J., Dinesen, L. C., Ryan, A. W., Panesar, D., Gwilliam, R., Takeuchi, F., and 25 others. &lt;strong&gt;Newly identified genetic risk variants for celiac disease related to the immune response.&lt;/strong&gt; Nature Genet. 40: 395-402, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18311140/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18311140&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18311140[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.102&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18311140">Hunt et al. (2008)</a> found that <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs6822844;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs6822844</a> showed a strong association with celiac disease (P overall = 2.82 x 10(-13)). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18311140" 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 an Italian cohort involving 538 patients with celiac disease and 593 healthy controls, <a href="#4" class="mim-tip-reference" title="Romanos, J., Barisani, D., Trynka, G., Zhernakova, A., Bardella, M. T., Wijmenga, C. &lt;strong&gt;Six new coeliac disease loci replicated in an Italian population confirm association with coeliac disease.&lt;/strong&gt; J. Med. Genet. 46: 60-63, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18805825/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18805825&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2008.061457&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18805825">Romanos et al. (2009)</a> confirmed association at <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs6822844;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs6822844</a> (p = 0.0253). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18805825" 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>Autoimmune Disease Susceptibility</em></strong></p><p>
<a href="#8" class="mim-tip-reference" title="Zhernakova, A., Alizadeh, B. Z., Bevova, M., van Leeuwen, M. A., Coenen, M. J. H., Franke, B., Franke, L., Posthumus, M. D., van Heel, D. A., van der Steege, G., Radstake, T. R. D. J., Barrera, P., Roep, B. O., Koeleman, B. P. C., Wijmenga, C. &lt;strong&gt;Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases.&lt;/strong&gt; Am. J. Hum. Genet. 81: 1284-1288, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17999365/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17999365&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/522037&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17999365">Zhernakova et al. (2007)</a> hypothesized that the KIAA1109/TENR/IL2/IL21 CD susceptibility region reported by <a href="#6" class="mim-tip-reference" title="van Heel, D. A., Franke, L., Hunt, K. A., Gwilliam, R., Zhernakova, A., Inouye, M., Wapenaar, M. C., Barnardo, M. C. N. M., Bethel, G., Holmes, G. K. T., Feighery, C., Jewell, D., and 16 others. &lt;strong&gt;A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.&lt;/strong&gt; Nature Genet. 39: 827-829, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17558408/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17558408&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng2058&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17558408">van Heel et al. (2007)</a> may represent a general risk locus for multiple autoimmune diseases. They tested <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs6822844;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs6822844</a> for association with disease in 350 type 1 diabetes (T1D; see <a href="/entry/222100">222100</a>)-affected and 1,047 rheumatoid arthritis (RA; <a href="/entry/180300">180300</a>)-affected Dutch patients and 929 controls. A decrease in the frequency of the T allele was observed in both T1D (12.7%) and RA (14.1%) groups compared with controls (18.5%). The association was significant in both T1D (P = 0.0006, OR = 0.64, 95% CI 0.50-0.83) and RA (P = 0.0002, OR = 0.72, 95% CI 0.61-0.86). The <a href="#7" class="mim-tip-reference" title="Wellcome Trust Case Control Consortium. &lt;strong&gt;Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.&lt;/strong&gt; Nature 447: 661-678, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17554300/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17554300&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=17554300[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nature05911&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17554300">Wellcome Trust Case Control Consortium (2007)</a> had reported a locus on 4q27 containing the KIAA1109/TENR/IL2/IL21 region in a genomewide association study of T1D; the follow-up replication study of <a href="#5" class="mim-tip-reference" title="Todd, J. A., Walker, N. M., Cooper, J. D., Smyth, D. J., Downes, K., Plagnol, V., Bailey, R., Nejentsev, S., Field, S. F., Payne, F., Lowe, C. E., Szeszko, J. S., and 30 others. &lt;strong&gt;Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.&lt;/strong&gt; Nature Genet. 39: 857-864, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17554260/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17554260&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng2068&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17554260">Todd et al. (2007)</a> indicated moderate association of SNPs in the KIAA1109/TENR/IL2/IL21 region with T1D. <a href="#8" class="mim-tip-reference" title="Zhernakova, A., Alizadeh, B. Z., Bevova, M., van Leeuwen, M. A., Coenen, M. J. H., Franke, B., Franke, L., Posthumus, M. D., van Heel, D. A., van der Steege, G., Radstake, T. R. D. J., Barrera, P., Roep, B. O., Koeleman, B. P. C., Wijmenga, C. &lt;strong&gt;Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases.&lt;/strong&gt; Am. J. Hum. Genet. 81: 1284-1288, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17999365/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17999365&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/522037&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17999365">Zhernakova et al. (2007)</a> found that the most T1D-associated SNP in the <a href="#7" class="mim-tip-reference" title="Wellcome Trust Case Control Consortium. &lt;strong&gt;Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.&lt;/strong&gt; Nature 447: 661-678, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17554300/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17554300&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=17554300[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nature05911&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17554300">Wellcome Trust Case Control Consortium (2007)</a> study, <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3136534;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs3136534</a>, was in complete LD with one of the SNPs identified by <a href="#6" class="mim-tip-reference" title="van Heel, D. A., Franke, L., Hunt, K. A., Gwilliam, R., Zhernakova, A., Inouye, M., Wapenaar, M. C., Barnardo, M. C. N. M., Bethel, G., Holmes, G. K. T., Feighery, C., Jewell, D., and 16 others. &lt;strong&gt;A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.&lt;/strong&gt; Nature Genet. 39: 827-829, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17558408/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17558408&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng2058&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17558408">van Heel et al. (2007)</a>, <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs4505848;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs4505848</a>. <a href="#8" class="mim-tip-reference" title="Zhernakova, A., Alizadeh, B. Z., Bevova, M., van Leeuwen, M. A., Coenen, M. J. H., Franke, B., Franke, L., Posthumus, M. D., van Heel, D. A., van der Steege, G., Radstake, T. R. D. J., Barrera, P., Roep, B. O., Koeleman, B. P. C., Wijmenga, C. &lt;strong&gt;Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases.&lt;/strong&gt; Am. J. Hum. Genet. 81: 1284-1288, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17999365/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17999365&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/522037&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17999365">Zhernakova et al. (2007)</a> found a slight increase in the G allele of <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs4505848;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs4505848</a> in patients with T1D and RA compared with controls. Overall, <a href="#8" class="mim-tip-reference" title="Zhernakova, A., Alizadeh, B. Z., Bevova, M., van Leeuwen, M. A., Coenen, M. J. H., Franke, B., Franke, L., Posthumus, M. D., van Heel, D. A., van der Steege, G., Radstake, T. R. D. J., Barrera, P., Roep, B. O., Koeleman, B. P. C., Wijmenga, C. &lt;strong&gt;Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases.&lt;/strong&gt; Am. J. Hum. Genet. 81: 1284-1288, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17999365/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17999365&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/522037&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17999365">Zhernakova et al. (2007)</a> found that the T allele of the <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs6822844;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs6822844</a> SNP was a perfect proxy for a haplotype, AATGG, that showed consistent association with the majority of the decreased risk for CD, T1D, and RA and was therefore the best proxy for the disease variant, which could not be determined because of extensive linkage disequilibrium. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17554300+17558408+17554260+17999365" 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>Psoriatic Arthritis Susceptibility</em></strong></p><p>
In a genomewide association study of 223 U.S. patients with psoriasis, including 91 with psoriatic arthritis, and 519 European controls, followed by replication in a U.K. cohort of 576 patients with psoriatic arthritis and 480 controls, <a href="#3" class="mim-tip-reference" title="Liu, Y., Helms, C., Liao, W., Zaba, L. C., Duan, S., Gardner, J., Wise, C., Miner, A., Malloy, M. J., Pullinger, C. R., Kane, J. P., Saccone, S., Worthington, J., Bruce, I., Kwok, P.-Y., Menter, A., Krueger, J., Barton, A., Saccone, N. L., Bowcock, A. M. &lt;strong&gt;A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.&lt;/strong&gt; PLoS Genet. 4: e1000041, 2008. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18369459/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18369459&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18369459[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1371/journal.pgen.1000041&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18369459">Liu et al. (2008)</a> found evidence for a locus on chromosome 4q27, which harbors the IL2 (<a href="/entry/147680">147680</a>) and IL21 (<a href="/entry/605384">605384</a>) genes. The most significant association in the discovery set was with <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs13151961;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs13151961</a> (p = 4 x 10(-5)); <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs13151961;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs13151961</a>, <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs7684187;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs7684187</a>, and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs6822844;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs6822844</a> showed association with psoriatic arthritis in the replication cohort (p values from 0.001 to 0.008). <a href="#3" class="mim-tip-reference" title="Liu, Y., Helms, C., Liao, W., Zaba, L. C., Duan, S., Gardner, J., Wise, C., Miner, A., Malloy, M. J., Pullinger, C. R., Kane, J. P., Saccone, S., Worthington, J., Bruce, I., Kwok, P.-Y., Menter, A., Krueger, J., Barton, A., Saccone, N. L., Bowcock, A. M. &lt;strong&gt;A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.&lt;/strong&gt; PLoS Genet. 4: e1000041, 2008. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18369459/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18369459&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18369459[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1371/journal.pgen.1000041&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18369459">Liu et al. (2008)</a> noted that this region overlaps with the PSORS3 locus (<a href="/entry/601454">601454</a>) and the CELIAC6 locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18369459" 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>
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<a id="references"class="mim-anchor"></a>
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<strong>REFERENCES</strong>
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<a id="1" class="mim-anchor"></a>
<a id="Farrell2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Farrell, R. J., Kelly, C. P.
<strong>Celiac sprue.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11796853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11796853</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11796853" 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/NEJMra010852" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="Hunt2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hunt, K. A., Zhernakova, A., Turner, G., Heap, G. A. R., Franke, L., Bruinenberg, M., Romanos, J., Dinesen, L. C., Ryan, A. W., Panesar, D., Gwilliam, R., Takeuchi, F., and 25 others.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18311140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18311140</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18311140[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=18311140" 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.102" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
<a id="Liu2008" class="mim-anchor"></a>
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Liu, Y., Helms, C., Liao, W., Zaba, L. C., Duan, S., Gardner, J., Wise, C., Miner, A., Malloy, M. J., Pullinger, C. R., Kane, J. P., Saccone, S., Worthington, J., Bruce, I., Kwok, P.-Y., Menter, A., Krueger, J., Barton, A., Saccone, N. L., Bowcock, A. M.
<strong>A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.</strong>
PLoS Genet. 4: e1000041, 2008. Note: Electronic Article.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18369459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18369459</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18369459[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=18369459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1371/journal.pgen.1000041" target="_blank">Full Text</a>]
</p>
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<a id="Romanos2009" class="mim-anchor"></a>
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<p class="mim-text-font">
Romanos, J., Barisani, D., Trynka, G., Zhernakova, A., Bardella, M. T., Wijmenga, C.
<strong>Six new coeliac disease loci replicated in an Italian population confirm association with coeliac disease.</strong>
J. Med. Genet. 46: 60-63, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18805825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18805825</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18805825" 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.2008.061457" target="_blank">Full Text</a>]
</p>
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<a id="5" class="mim-anchor"></a>
<a id="Todd2007" class="mim-anchor"></a>
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<p class="mim-text-font">
Todd, J. A., Walker, N. M., Cooper, J. D., Smyth, D. J., Downes, K., Plagnol, V., Bailey, R., Nejentsev, S., Field, S. F., Payne, F., Lowe, C. E., Szeszko, J. S., and 30 others.
<strong>Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.</strong>
Nature Genet. 39: 857-864, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17554260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17554260</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17554260" 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/ng2068" target="_blank">Full Text</a>]
</p>
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<a id="6" class="mim-anchor"></a>
<a id="van Heel2007" class="mim-anchor"></a>
<div class="">
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van Heel, D. A., Franke, L., Hunt, K. A., Gwilliam, R., Zhernakova, A., Inouye, M., Wapenaar, M. C., Barnardo, M. C. N. M., Bethel, G., Holmes, G. K. T., Feighery, C., Jewell, D., and 16 others.
<strong>A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.</strong>
Nature Genet. 39: 827-829, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558408</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17558408" 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/ng2058" target="_blank">Full Text</a>]
</p>
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<a id="7" class="mim-anchor"></a>
<a id="{Wellcome Trust Case Control Consortium}2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wellcome Trust Case Control Consortium.
<strong>Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.</strong>
Nature 447: 661-678, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17554300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17554300</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17554300[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=17554300" 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/nature05911" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
<a id="Zhernakova2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zhernakova, A., Alizadeh, B. Z., Bevova, M., van Leeuwen, M. A., Coenen, M. J. H., Franke, B., Franke, L., Posthumus, M. D., van Heel, D. A., van der Steege, G., Radstake, T. R. D. J., Barrera, P., Roep, B. O., Koeleman, B. P. C., Wijmenga, C.
<strong>Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases.</strong>
Am. J. Hum. Genet. 81: 1284-1288, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17999365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17999365</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17999365" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/522037" target="_blank">Full Text</a>]
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<span class="mim-text-font">
Cassandra L. Kniffin - updated : 4/8/2010
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Marla J. F. O'Neill - updated : 5/14/2009<br>Ada Hamosh - updated : 4/23/2008<br>Victor A. McKusick - updated : 11/28/2007
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Creation Date:
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Marla J. F. O&#x27;Neill : 11/14/2007
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carol : 02/23/2015
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mcolton : 11/26/2013<br>wwang : 4/14/2010<br>wwang : 4/13/2010<br>ckniffin : 4/8/2010<br>wwang : 6/1/2009<br>terry : 5/14/2009<br>carol : 1/8/2009<br>alopez : 4/24/2008<br>terry : 4/23/2008<br>alopez : 12/19/2007<br>alopez : 12/19/2007<br>alopez : 12/19/2007<br>alopez : 12/18/2007<br>alopez : 11/29/2007<br>terry : 11/28/2007<br>wwang : 11/14/2007
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<strong>%</strong> 611598
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<span class="mim-font">
CELIAC DISEASE, SUSCEPTIBILITY TO, 6; CELIAC6
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<span class="mim-font">
<em>Alternative titles; symbols</em>
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<span class="mim-font">
GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 6
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Other entities represented in this entry:
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<span class="h3 mim-font">
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 5, INCLUDED; AIS5, INCLUDED
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<span class="mim-text-font">
<strong>DO:</strong> 10608; &nbsp;
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<strong>
<em>
Cytogenetic location: 4q27
&nbsp;
Genomic coordinates <span class="small">(GRCh38)</span> : 4:119,900,001-122,800,000 </span>
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</strong>
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<strong>Gene-Phenotype Relationships</strong>
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Location
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<th>
Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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4q27
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<span class="mim-font">
{Autoimmune disease, susceptibility to, 5}
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<span class="mim-font">
611598
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2
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<span class="mim-font">
{Celiac disease, susceptibility to, 6}
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<td>
<span class="mim-font">
611598
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<span class="mim-font">
</span>
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<span class="mim-font">
2
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<h4>
<span class="mim-font">
<strong>TEXT</strong>
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<span class="mim-font">
<strong>Description</strong>
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<p>Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). </p><p>For additional information and a discussion of genetic heterogeneity of celiac disease, see 212750.</p><p>For a discussion of autoimmunity, see 109100.</p>
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<strong>Mapping</strong>
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<p>A susceptibility to celiac disease (CELIAC6) and to autoimmunity (AIS5) has been mapped to the 4q27 region, within a linkage disequilibrium (LD) block encompassing the KIAA1109 (611565), TENR (ADAD1), IL2 (147680), and IL21 (605384) genes.</p><p><strong><em>Celiac Disease Susceptibility</em></strong></p><p>
In a genomewide study to identify predisposing factors in celiac disease (CD), Van Heel et al. (2007) identified genetic variation in a linkage disequilibrium (LD) block encompassing the KIAA1109, TENR (ADAD1), IL2, and IL21 genes as a susceptibility factor for CD. Using 310,605 genomewide SNPs in 778 individuals from the United Kingdom (UK) with CD and 1,422 UK controls, they achieved the most significant linkage outside the HLA region (see 146880) at rs13119723 (P = 2.0 x 10(-7)) in the KIAA1109 gene (611565) on chromosome 4q27. The association was confirmed in 2 further collections, 508 Dutch CD patients and 929 controls and 483 Irish CD patients and 560 controls (metaanalysis P = 4.8 x 10(-11)). The strongest association overall was achieved at rs6822844 (metaanalysis P = 1.3 x 10(-14)) located 25 kb 5-prime of the IL21 gene. Van Heel et al. (2007) concluded that genetic variation at chromosome 4q27, in an LD block spanning the KIAA1109, TENR (ADAD1), IL2, and IL21 genes, predisposes to CD. The authors stated that because of extensive LD the causal variant associated with CD in the 4q27 region could not be determined. </p><p>In a separate replication sample comprising 1,643 celiac cases and 3,406 controls from 3 independent European celiac disease collections, Hunt et al. (2008) found that rs6822844 showed a strong association with celiac disease (P overall = 2.82 x 10(-13)). </p><p>In an Italian cohort involving 538 patients with celiac disease and 593 healthy controls, Romanos et al. (2009) confirmed association at rs6822844 (p = 0.0253). </p><p><strong><em>Autoimmune Disease Susceptibility</em></strong></p><p>
Zhernakova et al. (2007) hypothesized that the KIAA1109/TENR/IL2/IL21 CD susceptibility region reported by van Heel et al. (2007) may represent a general risk locus for multiple autoimmune diseases. They tested rs6822844 for association with disease in 350 type 1 diabetes (T1D; see 222100)-affected and 1,047 rheumatoid arthritis (RA; 180300)-affected Dutch patients and 929 controls. A decrease in the frequency of the T allele was observed in both T1D (12.7%) and RA (14.1%) groups compared with controls (18.5%). The association was significant in both T1D (P = 0.0006, OR = 0.64, 95% CI 0.50-0.83) and RA (P = 0.0002, OR = 0.72, 95% CI 0.61-0.86). The Wellcome Trust Case Control Consortium (2007) had reported a locus on 4q27 containing the KIAA1109/TENR/IL2/IL21 region in a genomewide association study of T1D; the follow-up replication study of Todd et al. (2007) indicated moderate association of SNPs in the KIAA1109/TENR/IL2/IL21 region with T1D. Zhernakova et al. (2007) found that the most T1D-associated SNP in the Wellcome Trust Case Control Consortium (2007) study, rs3136534, was in complete LD with one of the SNPs identified by van Heel et al. (2007), rs4505848. Zhernakova et al. (2007) found a slight increase in the G allele of rs4505848 in patients with T1D and RA compared with controls. Overall, Zhernakova et al. (2007) found that the T allele of the rs6822844 SNP was a perfect proxy for a haplotype, AATGG, that showed consistent association with the majority of the decreased risk for CD, T1D, and RA and was therefore the best proxy for the disease variant, which could not be determined because of extensive linkage disequilibrium. </p><p><strong><em>Psoriatic Arthritis Susceptibility</em></strong></p><p>
In a genomewide association study of 223 U.S. patients with psoriasis, including 91 with psoriatic arthritis, and 519 European controls, followed by replication in a U.K. cohort of 576 patients with psoriatic arthritis and 480 controls, Liu et al. (2008) found evidence for a locus on chromosome 4q27, which harbors the IL2 (147680) and IL21 (605384) genes. The most significant association in the discovery set was with rs13151961 (p = 4 x 10(-5)); rs13151961, rs7684187, and rs6822844 showed association with psoriatic arthritis in the replication cohort (p values from 0.001 to 0.008). Liu et al. (2008) noted that this region overlaps with the PSORS3 locus (601454) and the CELIAC6 locus. </p>
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
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</h4>
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<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Farrell, R. J., Kelly, C. P.
<strong>Celiac sprue.</strong>
New Eng. J. Med. 346: 180-188, 2002.
[PubMed: 11796853]
[Full Text: https://doi.org/10.1056/NEJMra010852]
</p>
</li>
<li>
<p class="mim-text-font">
Hunt, K. A., Zhernakova, A., Turner, G., Heap, G. A. R., Franke, L., Bruinenberg, M., Romanos, J., Dinesen, L. C., Ryan, A. W., Panesar, D., Gwilliam, R., Takeuchi, F., and 25 others.
<strong>Newly identified genetic risk variants for celiac disease related to the immune response.</strong>
Nature Genet. 40: 395-402, 2008.
[PubMed: 18311140]
[Full Text: https://doi.org/10.1038/ng.102]
</p>
</li>
<li>
<p class="mim-text-font">
Liu, Y., Helms, C., Liao, W., Zaba, L. C., Duan, S., Gardner, J., Wise, C., Miner, A., Malloy, M. J., Pullinger, C. R., Kane, J. P., Saccone, S., Worthington, J., Bruce, I., Kwok, P.-Y., Menter, A., Krueger, J., Barton, A., Saccone, N. L., Bowcock, A. M.
<strong>A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.</strong>
PLoS Genet. 4: e1000041, 2008. Note: Electronic Article.
[PubMed: 18369459]
[Full Text: https://doi.org/10.1371/journal.pgen.1000041]
</p>
</li>
<li>
<p class="mim-text-font">
Romanos, J., Barisani, D., Trynka, G., Zhernakova, A., Bardella, M. T., Wijmenga, C.
<strong>Six new coeliac disease loci replicated in an Italian population confirm association with coeliac disease.</strong>
J. Med. Genet. 46: 60-63, 2009.
[PubMed: 18805825]
[Full Text: https://doi.org/10.1136/jmg.2008.061457]
</p>
</li>
<li>
<p class="mim-text-font">
Todd, J. A., Walker, N. M., Cooper, J. D., Smyth, D. J., Downes, K., Plagnol, V., Bailey, R., Nejentsev, S., Field, S. F., Payne, F., Lowe, C. E., Szeszko, J. S., and 30 others.
<strong>Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.</strong>
Nature Genet. 39: 857-864, 2007.
[PubMed: 17554260]
[Full Text: https://doi.org/10.1038/ng2068]
</p>
</li>
<li>
<p class="mim-text-font">
van Heel, D. A., Franke, L., Hunt, K. A., Gwilliam, R., Zhernakova, A., Inouye, M., Wapenaar, M. C., Barnardo, M. C. N. M., Bethel, G., Holmes, G. K. T., Feighery, C., Jewell, D., and 16 others.
<strong>A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.</strong>
Nature Genet. 39: 827-829, 2007.
[PubMed: 17558408]
[Full Text: https://doi.org/10.1038/ng2058]
</p>
</li>
<li>
<p class="mim-text-font">
Wellcome Trust Case Control Consortium.
<strong>Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.</strong>
Nature 447: 661-678, 2007.
[PubMed: 17554300]
[Full Text: https://doi.org/10.1038/nature05911]
</p>
</li>
<li>
<p class="mim-text-font">
Zhernakova, A., Alizadeh, B. Z., Bevova, M., van Leeuwen, M. A., Coenen, M. J. H., Franke, B., Franke, L., Posthumus, M. D., van Heel, D. A., van der Steege, G., Radstake, T. R. D. J., Barrera, P., Roep, B. O., Koeleman, B. P. C., Wijmenga, C.
<strong>Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases.</strong>
Am. J. Hum. Genet. 81: 1284-1288, 2007.
[PubMed: 17999365]
[Full Text: https://doi.org/10.1086/522037]
</p>
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Cassandra L. Kniffin - updated : 4/8/2010<br>Marla J. F. O&#x27;Neill - updated : 5/14/2009<br>Ada Hamosh - updated : 4/23/2008<br>Victor A. McKusick - updated : 11/28/2007
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<span class="mim-text-font">
Marla J. F. O&#x27;Neill : 11/14/2007
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carol : 02/23/2015<br>mcolton : 11/26/2013<br>wwang : 4/14/2010<br>wwang : 4/13/2010<br>ckniffin : 4/8/2010<br>wwang : 6/1/2009<br>terry : 5/14/2009<br>carol : 1/8/2009<br>alopez : 4/24/2008<br>terry : 4/23/2008<br>alopez : 12/19/2007<br>alopez : 12/19/2007<br>alopez : 12/19/2007<br>alopez : 12/18/2007<br>alopez : 11/29/2007<br>terry : 11/28/2007<br>wwang : 11/14/2007
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