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<title>
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Entry
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- #612520 - TYPE 1 DIABETES MELLITUS 20; T1D20
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- OMIM
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<span class="h4">#612520</span>
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<strong>Table of Contents</strong>
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<li role="presentation">
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</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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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(TYPE 1 DIABETES MELLITUS) OR (HNF1A)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8219" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=612520[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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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 class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110757" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/612520" 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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<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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</span>
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</span>
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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> 0110757<br />
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">ICD+</a>
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</div>
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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, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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612520
|
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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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TYPE 1 DIABETES MELLITUS 20; T1D20
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</span>
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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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DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20
|
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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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</div>
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</div>
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
|
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Phenotype
|
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</th>
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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<th>
|
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Gene/Locus
|
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</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
|
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</th>
|
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</tr>
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</thead>
|
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<tbody>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/geneMap/12/887?start=-3&limit=10&highlight=887">
|
|
12q24.31
|
|
</a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Diabetes mellitus, insulin-dependent, 20
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/612520"> 612520 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
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<p>A number sign (#) is used with this entry because of evidence that susceptibility to type 1 diabetes mellitus-20 (T1D20) is conferred by heterozygous variation in the HNF1A gene (<a href="/entry/142410">142410</a>) on chromosome 12q24.</p><p>For a phenotypic description of type 1 diabetes mellitus, see T1D (<a href="/entry/222100">222100</a>).</p>
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<p>The <a href="#5" class="mim-tip-reference" title="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://doi.org/10.1038/nature05911" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17554300">Wellcome Trust Case Control Consortium (2007)</a> described a joint genomewide association study using the Affymetrix GeneChip 500K Mapping Array Set, undertaken in the British population, which examined approximately 2,000 individuals and a shared set of approximately 3,000 controls for each of 7 major diseases. Case-control comparisons identified an independent association signal for type 1 diabetes at <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs17696736;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs17696736</a> in the C12ORF30 gene on chromosome 12q24 (p = 1.51 x 10(-14)). <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'})"><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 study of 4,000 individuals with type 1 diabetes, 5,000 controls, and 2,997 family trios independent of the <a href="#5" class="mim-tip-reference" title="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://doi.org/10.1038/nature05911" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17554300">Wellcome Trust Case Control Consortium (2007)</a> study, <a href="#4" 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> confirmed the previously reported association of <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs17696736;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs17696736</a> on chromosome 12q24 (p = 1.35 x 10(-9); combined with WTCCC, p = 2.31 x 10(-16)). The association with <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs17696736;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs17696736</a> led to the identification of a 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>) in exon 3 of the SH2B3 gene (<a href="/entry/605093">605093</a>) that was sufficient to model the association of the entire region (p = 1.73 x 10(-21)). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17554300+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>In 8,064 patients with type 1 diabetes, 2,828 families providing 3,064 parent-child trios, and 9,339 controls, <a href="#3" 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> confirmed association 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> in the SH2B3 gene (combined p = 5.62 x 10(-31)). <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><a href="#1" class="mim-tip-reference" title="Barrett, J. C., Clayton, D. G., Concannon, P., Akolkar, B., Cooper, J. D., Erlich, H. A., Julier, C., Morahan, G., Nerup, J., Nierras, C., Plagnol, V., Pociot, F., Schuilenburg, H., Smyth, D. J., Stevens, H., Todd, J. A., Walker, N. M., Rich, S. S., Type 1 Diabetes Genetics Consortium. <strong>Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.</strong> Nature Genet. 41: 703-707, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19430480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19430480</a>] [<a href="https://doi.org/10.1038/ng.381" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19430480">Barrett et al. (2009)</a> reported the findings of a genomewide association study of type 1 diabetes, combined in a metaanalysis with 2 previously published studies (<a href="#5" class="mim-tip-reference" title="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://doi.org/10.1038/nature05911" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17554300">Wellcome Trust Case Control Consortium, 2007</a>; <a href="#2" class="mim-tip-reference" title="Cooper, J. D., Smyth, D. J., Smiles, A. M., Plagnol, V., Walker, N. M., Allen, J. E., Downes, K., Barrett, J. C., Healy, B. C., Mychaleckyj, J. C., Warram, J. H., Todd, J. A. <strong>Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.</strong> Nature Genet. 40: 1399-1401, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18978792/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18978792</a>] [<a href="https://doi.org/10.1038/ng.249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18978792">Cooper et al., 2008</a>). The total sample set included 7,514 cases and 9,045 reference samples. Using an analysis that combined comparisons over the 3 studies, they confirmed several previously reported associations, 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 12q24.12 (p = 2.8 x 10(-27)). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19430480+18978792+17554300" 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="#6" class="mim-tip-reference" title="Yamada, S., Nishigori, H., Onda, H., Utsugi, T., Yanagawa, T., Maruyama, T., Onigata, K., Nagashima, K., Nagai, R., Morikawa, A., Takeuchi, T., Takeda, J. <strong>Identification of mutations in the hepatocyte nuclear factor (HNF)-1-alpha gene in Japanese subjects with IDDM.</strong> Diabetes 46: 1643-1647, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9313763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9313763</a>] [<a href="https://doi.org/10.2337/diacare.46.10.1643" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9313763">Yamada et al. (1997)</a> screened the HNF1A gene for mutations in Japanese subjects with IDDM. Mutations were identified in 3 (5.5%) of the 55 unrelated subjects with IDDM (e.g., <a href="/entry/142410#0001">142410.0001</a>, <a href="/entry/142410#0005">142410.0005</a>, and <a href="/entry/142410#0006">142410.0006</a>). None of these mutations was found in 200 normal chromosomes from nondiabetic subjects. The results indicated that mutation in the HNF1A gene can lead to development not only of early-onset NIDDM (see <a href="/entry/142410#0008">142410.0008</a>) but also of IDDM. In a subclassification of IDDM, the HNF1A-deficient type should be distinguished from the classic type of autoimmune-based IDDM in Japanese. All of these mutations were heterozygous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9313763" 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="#7" class="mim-tip-reference" title="Yoshiuchi, I., Yamagata, K., Yoshimoto, M., Zhu, Q., Yang, Q., Nammo, T., Uenaka, R., Kinoshita, E., Hanafusa, T., Miyagawa, J., Matsuzawa, Y. <strong>Analysis of a non-functional HNF-1-alpha (TCF1) mutation in Japanese subjects with familial type 1 diabetes.</strong> Hum. Mutat. 18: 345-351, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11668618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11668618</a>] [<a href="https://doi.org/10.1002/humu.1196" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11668618">Yoshiuchi et al. (2001)</a> identified a frameshift mutation in the HNF1A gene (<a href="/entry/142410#0012">142410.0012</a>) in a family with a strong history of type 1 diabetes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11668618" 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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Barrett, J. C., Clayton, D. G., Concannon, P., Akolkar, B., Cooper, J. D., Erlich, H. A., Julier, C., Morahan, G., Nerup, J., Nierras, C., Plagnol, V., Pociot, F., Schuilenburg, H., Smyth, D. J., Stevens, H., Todd, J. A., Walker, N. M., Rich, S. S., Type 1 Diabetes Genetics Consortium.
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Nature Genet. 41: 703-707, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19430480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19430480</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19430480" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cooper, J. D., Smyth, D. J., Smiles, A. M., Plagnol, V., Walker, N. M., Allen, J. E., Downes, K., Barrett, J. C., Healy, B. C., Mychaleckyj, J. C., Warram, J. H., Todd, J. A.
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Nature Genet. 40: 1399-1401, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18978792/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18978792</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18978792" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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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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</p>
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<a id="4" class="mim-anchor"></a>
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<a id="Todd2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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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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</p>
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<a id="5" class="mim-anchor"></a>
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<a id="{Wellcome Trust Case Control Consortium}2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wellcome Trust Case Control Consortium.
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<strong>Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.</strong>
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Nature 447: 661-678, 2007.
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[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>]
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[<a href="https://doi.org/10.1038/nature05911" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Yamada1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yamada, S., Nishigori, H., Onda, H., Utsugi, T., Yanagawa, T., Maruyama, T., Onigata, K., Nagashima, K., Nagai, R., Morikawa, A., Takeuchi, T., Takeda, J.
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<strong>Identification of mutations in the hepatocyte nuclear factor (HNF)-1-alpha gene in Japanese subjects with IDDM.</strong>
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Diabetes 46: 1643-1647, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9313763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9313763</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9313763" 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/10.2337/diacare.46.10.1643" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Yoshiuchi2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yoshiuchi, I., Yamagata, K., Yoshimoto, M., Zhu, Q., Yang, Q., Nammo, T., Uenaka, R., Kinoshita, E., Hanafusa, T., Miyagawa, J., Matsuzawa, Y.
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<strong>Analysis of a non-functional HNF-1-alpha (TCF1) mutation in Japanese subjects with familial type 1 diabetes.</strong>
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Hum. Mutat. 18: 345-351, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11668618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11668618</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11668618" 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/10.1002/humu.1196" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 4/21/2010
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Ada Hamosh - updated : 9/9/2009<br>Marla J. F. O'Neill - updated : 1/7/2009
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Creation Date:
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Marla J. F. O'Neill : 1/7/2009
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 09/03/2020
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<span class="mim-text-font">
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alopez : 04/22/2010<br>alopez : 4/21/2010<br>alopez : 9/9/2009<br>carol : 1/7/2009<br>carol : 1/7/2009
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<span class="mim-font">
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<strong>#</strong> 612520
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TYPE 1 DIABETES MELLITUS 20; T1D20
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<em>Alternative titles; symbols</em>
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DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20
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<strong>DO:</strong> 0110757;
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<strong>Phenotype-Gene 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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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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12q24.31
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<span class="mim-font">
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Diabetes mellitus, insulin-dependent, 20
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<span class="mim-font">
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612520
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<span class="mim-font">
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3
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<span class="mim-font">
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HNF1A
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<span class="mim-font">
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142410
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that susceptibility to type 1 diabetes mellitus-20 (T1D20) is conferred by heterozygous variation in the HNF1A gene (142410) on chromosome 12q24.</p><p>For a phenotypic description of type 1 diabetes mellitus, see T1D (222100).</p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The Wellcome Trust Case Control Consortium (2007) described a joint genomewide association study using the Affymetrix GeneChip 500K Mapping Array Set, undertaken in the British population, which examined approximately 2,000 individuals and a shared set of approximately 3,000 controls for each of 7 major diseases. Case-control comparisons identified an independent association signal for type 1 diabetes at rs17696736 in the C12ORF30 gene on chromosome 12q24 (p = 1.51 x 10(-14)). </p><p>In a study of 4,000 individuals with type 1 diabetes, 5,000 controls, and 2,997 family trios independent of the Wellcome Trust Case Control Consortium (2007) study, Todd et al. (2007) confirmed the previously reported association of rs17696736 on chromosome 12q24 (p = 1.35 x 10(-9); combined with WTCCC, p = 2.31 x 10(-16)). The association with rs17696736 led to the identification of a nonsynonymous SNP (rs3184504) in exon 3 of the SH2B3 gene (605093) that was sufficient to model the association of the entire region (p = 1.73 x 10(-21)). </p><p>In 8,064 patients with type 1 diabetes, 2,828 families providing 3,064 parent-child trios, and 9,339 controls, Smyth et al. (2008) confirmed association with rs3184504 in the SH2B3 gene (combined p = 5.62 x 10(-31)). </p><p>Barrett et al. (2009) reported the findings of a genomewide association study of type 1 diabetes, combined in a metaanalysis with 2 previously published studies (Wellcome Trust Case Control Consortium, 2007; Cooper et al., 2008). The total sample set included 7,514 cases and 9,045 reference samples. Using an analysis that combined comparisons over the 3 studies, they confirmed several previously reported associations, including rs3184504 at 12q24.12 (p = 2.8 x 10(-27)). </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>Yamada et al. (1997) screened the HNF1A gene for mutations in Japanese subjects with IDDM. Mutations were identified in 3 (5.5%) of the 55 unrelated subjects with IDDM (e.g., 142410.0001, 142410.0005, and 142410.0006). None of these mutations was found in 200 normal chromosomes from nondiabetic subjects. The results indicated that mutation in the HNF1A gene can lead to development not only of early-onset NIDDM (see 142410.0008) but also of IDDM. In a subclassification of IDDM, the HNF1A-deficient type should be distinguished from the classic type of autoimmune-based IDDM in Japanese. All of these mutations were heterozygous. </p><p>Yoshiuchi et al. (2001) identified a frameshift mutation in the HNF1A gene (142410.0012) in a family with a strong history of type 1 diabetes. </p>
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<h4>
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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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<div>
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<p />
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</div>
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<ol>
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<li>
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<p class="mim-text-font">
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Barrett, J. C., Clayton, D. G., Concannon, P., Akolkar, B., Cooper, J. D., Erlich, H. A., Julier, C., Morahan, G., Nerup, J., Nierras, C., Plagnol, V., Pociot, F., Schuilenburg, H., Smyth, D. J., Stevens, H., Todd, J. A., Walker, N. M., Rich, S. S., Type 1 Diabetes Genetics Consortium.
|
|
<strong>Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.</strong>
|
|
Nature Genet. 41: 703-707, 2009.
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[PubMed: 19430480]
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[Full Text: https://doi.org/10.1038/ng.381]
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</p>
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<li>
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<p class="mim-text-font">
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Cooper, J. D., Smyth, D. J., Smiles, A. M., Plagnol, V., Walker, N. M., Allen, J. E., Downes, K., Barrett, J. C., Healy, B. C., Mychaleckyj, J. C., Warram, J. H., Todd, J. A.
|
|
<strong>Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.</strong>
|
|
Nature Genet. 40: 1399-1401, 2008.
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[PubMed: 18978792]
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[Full Text: https://doi.org/10.1038/ng.249]
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</p>
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<li>
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<p class="mim-text-font">
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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>
|
|
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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<li>
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<p class="mim-text-font">
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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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Wellcome Trust Case Control Consortium.
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<strong>Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.</strong>
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Nature 447: 661-678, 2007.
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[PubMed: 17554300]
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[Full Text: https://doi.org/10.1038/nature05911]
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Yamada, S., Nishigori, H., Onda, H., Utsugi, T., Yanagawa, T., Maruyama, T., Onigata, K., Nagashima, K., Nagai, R., Morikawa, A., Takeuchi, T., Takeda, J.
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<strong>Identification of mutations in the hepatocyte nuclear factor (HNF)-1-alpha gene in Japanese subjects with IDDM.</strong>
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Diabetes 46: 1643-1647, 1997.
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[PubMed: 9313763]
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[Full Text: https://doi.org/10.2337/diacare.46.10.1643]
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Yoshiuchi, I., Yamagata, K., Yoshimoto, M., Zhu, Q., Yang, Q., Nammo, T., Uenaka, R., Kinoshita, E., Hanafusa, T., Miyagawa, J., Matsuzawa, Y.
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<strong>Analysis of a non-functional HNF-1-alpha (TCF1) mutation in Japanese subjects with familial type 1 diabetes.</strong>
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Hum. Mutat. 18: 345-351, 2001.
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[PubMed: 11668618]
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[Full Text: https://doi.org/10.1002/humu.1196]
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Marla J. F. O'Neill - updated : 4/21/2010<br>Ada Hamosh - updated : 9/9/2009<br>Marla J. F. O'Neill - updated : 1/7/2009
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Marla J. F. O'Neill : 1/7/2009
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