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Entry
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- %612011 - CELIAC DISEASE, SUSCEPTIBILITY TO, 13; CELIAC13
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- OMIM
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<a href="#mapping">Mapping</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="http://biogps.org/#goto=genereport&id=100188875" 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>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+100188875" 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>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/100188875" 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>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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<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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span class="small">
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div><a href="http://www.informatics.jax.org/disease/612011" 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>
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<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>
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<span>
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<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.">
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<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">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>DO:</strong> 10608<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description or locus, molecular basis unknown">
|
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<span class="text-danger"><strong>%</strong></span>
|
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612011
|
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
|
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<span class="mim-font">
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CELIAC DISEASE, SUSCEPTIBILITY TO, 13; CELIAC13
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</h3>
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</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 13
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
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Cytogenetic location: <a href="/geneMap/12/772?start=-3&limit=10&highlight=772">12q24</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:108600001-133275309&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'})">12:108,600,001-133,275,309</a> </span>
|
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</em>
|
|
</strong>
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|
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</span>
|
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</p>
|
|
</div>
|
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|
|
|
|
<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="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/12/772?start=-3&limit=10&highlight=772">
|
|
12q24
|
|
</a>
|
|
</span>
|
|
</td>
|
|
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|
|
<td>
|
|
<span class="mim-font">
|
|
{Celiac disease, susceptibility to, 13}
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/612011"> 612011 </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>
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|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
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|
|
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</tbody>
|
|
</table>
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|
</div>
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|
</div>
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<div>
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|
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|
|
|
|
|
|
|
<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>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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/612011" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/612011" 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"> {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/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/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>
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<a href="/entry/212750"> {Celiac disease, susceptibility to} </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</abbr>
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<a href="/entry/212750"> 212750 </a>
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<a href="/entry/212750"> {Celiac disease, susceptibility to} </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</abbr>
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<a href="/entry/212750"> 212750 </a>
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<a href="/entry/604305"> HLA-DQB1 </a>
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<span class="mim-font">
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<a href="/entry/612010"> {Celiac disease, susceptibility to, 12} </a>
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<a href="/entry/612010"> 612010 </a>
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<a href="/entry/612010"> CELIAC12 </a>
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<a href="/entry/612010"> 612010 </a>
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<span class="mim-font">
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<a href="/entry/612011"> {Celiac disease, susceptibility to, 13} </a>
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<a href="/entry/612011"> 612011 </a>
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<a href="/entry/612011"> CELIAC13 </a>
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<span class="mim-font">
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<a href="/entry/612011"> 612011 </a>
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<span class="mim-font">
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<a href="/entry/607202"> {Celiac disease, susceptibility to, 5} </a>
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<span class="mim-font">
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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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<span class="mim-font">
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<a href="/entry/607202"> 607202 </a>
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<span class="mim-font">
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<a href="/entry/607202"> CELIAC5 </a>
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<span class="mim-font">
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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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<span class="mim-font">
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<a href="/entry/609753"> {Celiac disease, susceptibility to, 4} </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Multifactorial">Mu</abbr>
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<span class="mim-font">
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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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<span class="mim-font">
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<a href="/entry/609753"> 609753 </a>
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<span class="mim-font">
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<a href="/entry/609753"> CELIAC4 </a>
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<span class="mim-font">
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<a href="/entry/609753"> 609753 </a>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<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.">
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<strong>TEXT</strong>
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<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 <a href="#1" class="mim-tip-reference" title="Farrell, R. J., Kelly, C. P. <strong>Celiac sprue.</strong> New Eng. J. Med. 346: 180-188, 2002.[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://doi.org/10.1056/NEJMra010852" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" 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>
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<strong>Mapping</strong>
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<p>To identify risk variants contributing to celiac disease susceptibility other than those in the HLA-DQ region (see CELIAC1, <a href="/entry/212750">212750</a>), <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. <strong>Newly identified genetic risk variants for celiac disease related to the immune response.</strong> Nature Genet. 40: 395-402, 2008.[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://doi.org/10.1038/ng.102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18311140">Hunt et al. (2008)</a> genotyped 1,020 of the most strongly associated non-HLA markers 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. <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://doi.org/10.1038/ng2058" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558408">van Heel et al. (2007)</a> in an additional 1,643 cases of celiac disease and 3,406 controls. <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. <strong>Newly identified genetic risk variants for celiac disease related to the immune response.</strong> Nature Genet. 40: 395-402, 2008.[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://doi.org/10.1038/ng.102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18311140">Hunt et al. (2008)</a> identified 2 correlated SNPs, <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs653178;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs653178</a> (P overall = 8 x 10(-8)) and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3184504;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs3184504</a> that mapped in the vicinity of the SH2B3 gene (<a href="/entry/605093">605093</a>). Modest LD was seen over a broader region of approximately 1 Mb containing multiple other genes. Strong association with type 1 diabetes was reported in this region with <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3184504;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs3184504</a> entirely accounting for the association signal (<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. <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://doi.org/10.1038/ng2068" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17554260">Todd et al., 2007</a>). SH2B3 is strongly expressed in monocytes and dendritic cells, as well as to a lesser extent in resting B, T, and natural killer cells. <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. <strong>Newly identified genetic risk variants for celiac disease related to the immune response.</strong> Nature Genet. 40: 395-402, 2008.[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://doi.org/10.1038/ng.102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18311140">Hunt et al. (2008)</a> found SH2B3 to be strongly expressed in small intestine; higher expression in inflamed celiac biopsies may reflect leukocyte recruitment and activation. The nonsynonymous SNP <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3184504;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs3184504</a> is located in exon 3 of SH2B3, leading to an R262W amino acid change in the pleckstrin homology domain. This domain may be important in plasma membrane targeting. SH2B3 regulates T-cell receptor, growth factor, and cytokine receptor-mediated signaling implicated in leukocyte and myeloid cell homeostasis. <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. <strong>Newly identified genetic risk variants for celiac disease related to the immune response.</strong> Nature Genet. 40: 395-402, 2008.[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://doi.org/10.1038/ng.102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18311140">Hunt et al. (2008)</a> also noted strong correlation between <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3184504;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs3184504</a> and another SNP, <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs653178;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs653178</a> (r(2) = 0.99). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18311140+17558408+17554260" 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="#4" class="mim-tip-reference" title="Smyth, D. J., Plagnol, V., Walker, N. M., Cooper, J. D., Downes, K., Yang, J. H. M., Howson, J. M. M., Stevens, H., McManus, R., Wijmenga, C., Heap, G. A., Dubois, P. C., Clayton, D. G., Hunt, K. A., van Heel, D. A., Todd, J. A. <strong>Shared and distinct genetic variants in type 1 diabetes and celiac disease.</strong> New Eng. J. Med. 359: 2767-2777, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19073967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19073967</a>] [<a href="https://doi.org/10.1056/NEJMoa0807917" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19073967">Smyth et al. (2008)</a> evaluated the association between type 1 diabetes (<a href="/entry/222100">222100</a>) and 8 loci related to the risk of celiac disease in 8,064 patients with type 1 diabetes, 2,828 families providing 3,064 parent-child trios, and 9,339 controls. The authors confirmed association between IDDM20 (<a href="/entry/612520">612520</a>) and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3184504;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs3184504</a> in the SH2B3 gene, which is associated with CELIAC13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19073967" 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="#3" class="mim-tip-reference" title="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://doi.org/10.1136/jmg.2008.061457" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18805825">Romanos et al. (2009)</a> confirmed association at <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3184504;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs3184504</a> (p = 0.0050). <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>
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<p><a href="#7" class="mim-tip-reference" title="Zhernakova, A., Elbers, C. C., Ferwerda, B., Romanos, J., Tryunka, G., Dubois, P. C., de Kovel, C. G. F., Francke, L., Oosting, M., Barisani, D., Bardella, M. T., Finnish Celiac Disease Study Group, Joosten, L. A. B., Saavalainen, P., van Heel, D. A., Catassi, C., Netea,, M. G., Wijmenga, C. <strong>Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection.</strong> Am. J. Hum. Genet. 86: 970-977, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20560212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20560212</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20560212[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.2010.05.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20560212">Zhernakova et al. (2010)</a> assessed signatures of natural selection for 10 confirmed celiac disease loci in several genomewide data sets comprising 8,154 controls from 4 European populations and 195 individuals from a North African population and found consistent signs of positive selection for disease-associated alleles at 3 loci, including <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3184504;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs3184504</a> at SH2B3 in the European populations. Functional investigation of the SH2B3 genotype in response to lipopolysaccharide and muramyl dipeptide showed that carriers of the SH2B3 <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3184504;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs3184504</a> 'A' risk allele showed stronger activation of the NOD2 recognition pathway than did carriers of the nonrisk 'G' allele, suggesting that SH2B3 plays a role in protection against bacterial infection and providing a possible explanation for the selective sweep, which occurred sometime between 1,200 and 1,700 years ago. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20560212" 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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Farrell, R. J., Kelly, C. P.
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<strong>Celiac sprue.</strong>
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New Eng. J. Med. 346: 180-188, 2002.
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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>]
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[<a href="https://doi.org/10.1056/NEJMra010852" target="_blank">Full Text</a>]
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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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<strong>Newly identified genetic risk variants for celiac disease related to the immune response.</strong>
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Nature Genet. 40: 395-402, 2008.
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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>]
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[<a href="https://doi.org/10.1038/ng.102" target="_blank">Full Text</a>]
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Romanos, J., Barisani, D., Trynka, G., Zhernakova, A., Bardella, M. T., Wijmenga, C.
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<strong>Six new coeliac disease loci replicated in an Italian population confirm association with coeliac disease.</strong>
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J. Med. Genet. 46: 60-63, 2009.
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[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>]
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[<a href="https://doi.org/10.1136/jmg.2008.061457" target="_blank">Full Text</a>]
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Smyth, D. J., Plagnol, V., Walker, N. M., Cooper, J. D., Downes, K., Yang, J. H. M., Howson, J. M. M., Stevens, H., McManus, R., Wijmenga, C., Heap, G. A., Dubois, P. C., Clayton, D. G., Hunt, K. A., van Heel, D. A., Todd, J. A.
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<strong>Shared and distinct genetic variants in type 1 diabetes and celiac disease.</strong>
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New Eng. J. Med. 359: 2767-2777, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19073967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19073967</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19073967" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJMoa0807917" target="_blank">Full Text</a>]
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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.
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<strong>Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.</strong>
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Nature Genet. 39: 857-864, 2007.
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[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>]
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[<a href="https://doi.org/10.1038/ng2068" target="_blank">Full Text</a>]
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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.
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<strong>A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.</strong>
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Nature Genet. 39: 827-829, 2007.
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[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>]
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[<a href="https://doi.org/10.1038/ng2058" target="_blank">Full Text</a>]
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Zhernakova, A., Elbers, C. C., Ferwerda, B., Romanos, J., Tryunka, G., Dubois, P. C., de Kovel, C. G. F., Francke, L., Oosting, M., Barisani, D., Bardella, M. T., Finnish Celiac Disease Study Group, Joosten, L. A. B., Saavalainen, P., van Heel, D. A., Catassi, C., Netea,, M. G., Wijmenga, C.
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<strong>Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection.</strong>
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Am. J. Hum. Genet. 86: 970-977, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20560212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20560212</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20560212[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=20560212" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2010.05.004" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 5/14/2009<br>Marla J. F. O'Neill - updated : 1/8/2009<br>Marla J. F. O'Neill - updated : 1/7/2009
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Ada Hamosh : 4/24/2008
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mcolton : 11/26/2013
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carol : 7/15/2010<br>wwang : 6/1/2009<br>terry : 5/14/2009<br>carol : 1/8/2009<br>carol : 1/8/2009<br>carol : 1/7/2009<br>alopez : 4/24/2008<br>alopez : 4/24/2008
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<strong>%</strong> 612011
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CELIAC DISEASE, SUSCEPTIBILITY TO, 13; CELIAC13
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GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 13
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<strong>DO:</strong> 10608;
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Cytogenetic location: 12q24
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Genomic coordinates <span class="small">(GRCh38)</span> : 12:108,600,001-133,275,309 </span>
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<strong>Gene-Phenotype Relationships</strong>
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Location
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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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12q24
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{Celiac disease, susceptibility to, 13}
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<span class="mim-font">
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612011
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2
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<strong>TEXT</strong>
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<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>
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<strong>Mapping</strong>
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<p>To identify risk variants contributing to celiac disease susceptibility other than those in the HLA-DQ region (see CELIAC1, 212750), Hunt et al. (2008) genotyped 1,020 of the most strongly associated non-HLA markers identified by van Heel et al. (2007) in an additional 1,643 cases of celiac disease and 3,406 controls. Hunt et al. (2008) identified 2 correlated SNPs, rs653178 (P overall = 8 x 10(-8)) and rs3184504 that mapped in the vicinity of the SH2B3 gene (605093). Modest LD was seen over a broader region of approximately 1 Mb containing multiple other genes. Strong association with type 1 diabetes was reported in this region with rs3184504 entirely accounting for the association signal (Todd et al., 2007). SH2B3 is strongly expressed in monocytes and dendritic cells, as well as to a lesser extent in resting B, T, and natural killer cells. Hunt et al. (2008) found SH2B3 to be strongly expressed in small intestine; higher expression in inflamed celiac biopsies may reflect leukocyte recruitment and activation. The nonsynonymous SNP rs3184504 is located in exon 3 of SH2B3, leading to an R262W amino acid change in the pleckstrin homology domain. This domain may be important in plasma membrane targeting. SH2B3 regulates T-cell receptor, growth factor, and cytokine receptor-mediated signaling implicated in leukocyte and myeloid cell homeostasis. Hunt et al. (2008) also noted strong correlation between rs3184504 and another SNP, rs653178 (r(2) = 0.99). </p><p>Smyth et al. (2008) evaluated the association between type 1 diabetes (222100) and 8 loci related to the risk of celiac disease in 8,064 patients with type 1 diabetes, 2,828 families providing 3,064 parent-child trios, and 9,339 controls. The authors confirmed association between IDDM20 (612520) and rs3184504 in the SH2B3 gene, which is associated with CELIAC13. </p><p>In an Italian cohort involving 538 patients with celiac disease and 593 healthy controls, Romanos et al. (2009) confirmed association at rs3184504 (p = 0.0050). </p>
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<strong>Population Genetics</strong>
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<p>Zhernakova et al. (2010) assessed signatures of natural selection for 10 confirmed celiac disease loci in several genomewide data sets comprising 8,154 controls from 4 European populations and 195 individuals from a North African population and found consistent signs of positive selection for disease-associated alleles at 3 loci, including rs3184504 at SH2B3 in the European populations. Functional investigation of the SH2B3 genotype in response to lipopolysaccharide and muramyl dipeptide showed that carriers of the SH2B3 rs3184504 'A' risk allele showed stronger activation of the NOD2 recognition pathway than did carriers of the nonrisk 'G' allele, suggesting that SH2B3 plays a role in protection against bacterial infection and providing a possible explanation for the selective sweep, which occurred sometime between 1,200 and 1,700 years ago. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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Farrell, R. J., Kelly, C. P.
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<strong>Celiac sprue.</strong>
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New Eng. J. Med. 346: 180-188, 2002.
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[PubMed: 11796853]
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[Full Text: https://doi.org/10.1056/NEJMra010852]
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</li>
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<li>
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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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<strong>Newly identified genetic risk variants for celiac disease related to the immune response.</strong>
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Nature Genet. 40: 395-402, 2008.
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[PubMed: 18311140]
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[Full Text: https://doi.org/10.1038/ng.102]
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Romanos, J., Barisani, D., Trynka, G., Zhernakova, A., Bardella, M. T., Wijmenga, C.
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<strong>Six new coeliac disease loci replicated in an Italian population confirm association with coeliac disease.</strong>
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J. Med. Genet. 46: 60-63, 2009.
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[PubMed: 18805825]
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[Full Text: https://doi.org/10.1136/jmg.2008.061457]
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Smyth, D. J., Plagnol, V., Walker, N. M., Cooper, J. D., Downes, K., Yang, J. H. M., Howson, J. M. M., Stevens, H., McManus, R., Wijmenga, C., Heap, G. A., Dubois, P. C., Clayton, D. G., Hunt, K. A., van Heel, D. A., Todd, J. A.
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<strong>Shared and distinct genetic variants in type 1 diabetes and celiac disease.</strong>
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New Eng. J. Med. 359: 2767-2777, 2008.
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[PubMed: 19073967]
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[Full Text: https://doi.org/10.1056/NEJMoa0807917]
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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.
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<strong>Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.</strong>
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Nature Genet. 39: 857-864, 2007.
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[PubMed: 17554260]
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[Full Text: https://doi.org/10.1038/ng2068]
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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.
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<strong>A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.</strong>
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Nature Genet. 39: 827-829, 2007.
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[PubMed: 17558408]
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[Full Text: https://doi.org/10.1038/ng2058]
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Zhernakova, A., Elbers, C. C., Ferwerda, B., Romanos, J., Tryunka, G., Dubois, P. C., de Kovel, C. G. F., Francke, L., Oosting, M., Barisani, D., Bardella, M. T., Finnish Celiac Disease Study Group, Joosten, L. A. B., Saavalainen, P., van Heel, D. A., Catassi, C., Netea,, M. G., Wijmenga, C.
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<strong>Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection.</strong>
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Am. J. Hum. Genet. 86: 970-977, 2010.
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[PubMed: 20560212]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.05.004]
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Contributors:
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Marla J. F. O'Neill - updated : 7/15/2010<br>Marla J. F. O'Neill - updated : 5/14/2009<br>Marla J. F. O'Neill - updated : 1/8/2009<br>Marla J. F. O'Neill - updated : 1/7/2009
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Creation Date:
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Ada Hamosh : 4/24/2008
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Edit History:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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mcolton : 11/26/2013<br>carol : 7/15/2010<br>wwang : 6/1/2009<br>terry : 5/14/2009<br>carol : 1/8/2009<br>carol : 1/8/2009<br>carol : 1/7/2009<br>alopez : 4/24/2008<br>alopez : 4/24/2008
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NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
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and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
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medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
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and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
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medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
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<br />
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
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Printed: March 13, 2025
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