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Entry
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- +142830 - MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">+142830</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype 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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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#evolution">Evolution</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/142830">Table View</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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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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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</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 class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000234745;t=ENST00000412585" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=3106" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=142830" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</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 class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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<div id="mimDnaLinksFold" 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.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000234745;t=ENST00000412585" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_005514" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_005514" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=142830" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</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 class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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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="mimProteinLinksFold" 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://hprd.org/summary?hprd_id=00828&isoform_id=00828_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/HLA-B" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a 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55665066,955665068,958108970,958108991,961556251,961556253,961556255,961556257,961556259,961591019,961591021,961591070,961591072,961591074,963528037,963528046,966343847,966343851,966557888,966557890,966798171,966798173,966798175,971459856,974397884,974397890,974397892,974397895,974397957,974397963,974397969,974397972,974397975,974397978,974397981,974397984,974707010,982281117,982281120,983174667,983656513,983656519,983656521,984549461,984910283,984910285,985477897,985477909,985560723,985560729,985578248,985578252,985578254,987918834,991452928,991460407,991460411,991460730,992321540,992391277,998453989,998453991,998453993,998615885,998615887,999944455,999944457,999944459,1001229353,1001229355,1002340240,1002340244,1002634533,1002634678,1003092029,1003121951,1003310512,1003310518,1003310520,1003310522,1003381241,1004349455,1005139292,1005816846,1007870735,1007870801,1007870870,1007870933,1008264188,1008264210,1008264212,1009091319,1009399538,1009427645,1009427647,1009427649,1009427651,1009427659,1009427938,1009427940,1009427942,1009427944,1009427946,1009427948,1009427950,1009427958,1009427960,1012306390,1012430889,1016871910,1022611490,1022611496,1022611498,1022611502,1024212652,1024212654,1024212656,1024212658,1024212660,1025608511,1025608513,1025608515,1026353075,1026355519,1031606442,1031606444,1031606446,1031606448,1031606450,1031606452,1031606454,1031606456,1031606458,1031606460,1031606462,1031606464,1031606466,1031606468,1031606470,1031606472,1031606474,1031606476,1031606478,1031606481,1031606483,1031606485,1031606487,1031606489,1031606491,1031606493,1031606495,1031606497,1031606499,1031606501,1031606503,1031606505,1031606507,1031606509,1031606511,1031606513,1031606515,1031606517,1031606519,1031606521,1031606523,1031606525,1031606527,1031606529,1031606531,1031606533,1031606535,1031606537,1031606539,1031606541,1031606543,1031606545,1031606547,1031606549,1031606551,1031606553,1031606555,1031606557,1031606559,1031606561,1031606563,1031606565,1031606567,1031606569,1031606571,1031606573,1031606575,1031606577,1031606579,1031606581,1031606583,1031606585,1031606587,1031606589,1031606591,1031606593,1031606595,1031606597,1031606599,1031606601,1031606603,1031606605,1031606607,1031606609,1031606611,1031606613,1031606615,1031606617,1031606619,1031606621,1031606623,1031606625,1031606627,1031606629,1031606631,1031606633,1031606635,1031606637,1031606639,1031606641,1031606643,1031606645,1031606647,1031606649,1031606651,1031606653,1031606655,1031606657,1031606659,1032797908,1032797910,1032797912,1032797914,1032797918,1032797930,1032797932,1032797934,1032797936,1032797938,1032797950,1032797952,1033015058,1033015060,2462494418,2462494420,2462494422" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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</div>
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</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 class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" 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="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</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="mimGeneInfoLinksFold" 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="http://biogps.org/#goto=genereport&id=3106" 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.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000234745;t=ENST00000412585" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=HLA-B" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=HLA-B" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+3106" 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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<dd><a href="http://v1.marrvel.org/search/gene/HLA-B" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:3106" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/3106" 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><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr6&hgg_gene=ENST00000412585.7&hgg_start=31353875&hgg_end=31357179&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</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 class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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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>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B" 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><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=142830[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>
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</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 class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Variation
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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="mimVariationLinksFold" 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.ncbi.nlm.nih.gov/clinvar?term=142830[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000234745" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=HLA-B" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=HLA-B" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=HLA-B" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.ebi.ac.uk/imgt/hla/" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=HLA-B&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA35056" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</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 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/gene/HGNC:4932" 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://v1.marrvel.org/search/gene/HLA-B#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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</div>
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</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 class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" 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="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</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="mimCellularPathwaysLinksFold" 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.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3106" 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>
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</div>
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</div>
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</div>
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</div>
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</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>
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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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</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="Gene and phenotype, combined">
|
|
<span class="text-danger"><strong>+</strong></span>
|
|
142830
|
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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>
|
|
<span class="mim-font">
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|
|
MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B
|
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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>
|
|
<span class="mim-font">
|
|
HLA-B HISTOCOMPATIBILITY TYPE
|
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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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<a id="includedTitles" class="mim-anchor"></a>
|
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<div>
|
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<p>
|
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<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
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</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
ABACAVIR HYPERSENSITIVITY, SUSCEPTIBILITY TO, INCLUDED
|
|
</span>
|
|
</div>
|
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<div>
|
|
<span class="h4 mim-font">
|
|
|
|
SYNOVITIS, CHRONIC, SUSCEPTIBILITY TO, INCLUDED<br />
|
|
DRUG-INDUCED LIVER INJURY DUE TO FLUCLOXACILLIN, INCLUDED
|
|
</span>
|
|
</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="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=HLA-B" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">HLA-B</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
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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">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/6/302?start=-3&limit=10&highlight=302">6p21.33</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:31353875-31357179&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'})">6:31,353,875-31,357,179</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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</span>
|
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</p>
|
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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>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=106300,608579,608579" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="6">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/6/302?start=-3&limit=10&highlight=302">
|
|
6p21.33
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
{Abacavir hypersensitivity, susceptibility to}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</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>
|
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|
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</tr>
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|
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|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Drug-induced liver injury due to flucloxacillin}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</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>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Spondyloarthropathy, susceptibility to, 1}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/106300"> 106300 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Multifactorial">Mu</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Stevens-Johnson syndrome, susceptibility to}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/608579"> 608579 </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>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Synovitis, chronic, susceptibility to}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</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>
|
|
|
|
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<p>For background information on the major histocompatibility complex (MHC) and human leukocyte antigens (HLAs), see HLA-A (<a href="/entry/142800">142800</a>).</p>
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<p><a href="#4" class="mim-tip-reference" title="Cann, H. M., Ascanio, L., Paul, P., Marcadet, A., Dausset, J., Cohen, D. <strong>Polymorphic restriction endonuclease fragment segregates and correlates with the gene for HLA-B8.</strong> Proc. Nat. Acad. Sci. 80: 1665-1668, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6300865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6300865</a>] [<a href="https://doi.org/10.1073/pnas.80.6.1665" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6300865">Cann et al. (1983)</a> found a restriction fragment that segregated with HLA-B8. Either the fragment carried the B8 specificity or represented another class I gene (or pseudogene) in linkage disequilibrium with HLA-B8. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6300865" 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="#12" class="mim-tip-reference" title="Dunham, I., Sargent, C. A., Trowsdale, J., Campbell, R. D. <strong>Molecular mapping of the human major histocompatibility complex by pulsed-field gel electrophoresis.</strong> Proc. Nat. Acad. Sci. 84: 7237-7241, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3118362/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3118362</a>] [<a href="https://doi.org/10.1073/pnas.84.20.7237" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3118362">Dunham et al. (1987)</a> used pulsed-field gel electrophoresis and 'cosmid walking' to establish a molecular map of the MHC region. They concluded that the MHC spans 3,800 kb. The HLA-B locus lies about 250 kb on the telomeric side of the tumor necrosis factor genes (see TNFA; <a href="/entry/191160">191160</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3118362" 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="#42" class="mim-tip-reference" title="Spies, T., Blanck, G., Bresnahan, M., Sands, J., Strominger, J. L. <strong>A new cluster of genes within the human major histocompatibility complex.</strong> Science 243: 214-217, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2911734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2911734</a>] [<a href="https://doi.org/10.1126/science.2911734" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2911734">Spies et al. (1989)</a> found that the HLA-B gene is 210 kb from the TNFA and TNFB (<a href="/entry/153440">153440</a>) genes. The class III gene C2 is separated from the HLA-B gene by 600 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2911734" 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="#43" class="mim-tip-reference" title="Spies, T., Bresnahan, M., Strominger, J. L. <strong>Human major histocompatibility complex contains a minimum of 19 genes between the complement cluster and HLA-B.</strong> Proc. Nat. Acad. Sci. 86: 8955-8958, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2813433/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2813433</a>] [<a href="https://doi.org/10.1073/pnas.86.22.8955" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2813433">Spies et al. (1989)</a> concluded that a 600-kb DNA segment between C2 and HLA-B contains a minimum of 19 genes. In addition to BAT1 (<a href="/entry/142560">142560</a>) through BAT5 (<a href="/entry/142620">142620</a>), which had been localized to the vicinity of the TNFA and TNFB genes, 4 genes, called BAT6 through BAT9, were mapped near C2 within a 120-kb region that also includes a pair of heat-shock protein genes (see <a href="/entry/140550">140550</a>). A large number of BssHII and SacII restriction sites, known to indicate the presence of multiple islands of CPG-rich sequences and in turn the association of expressed genes, occurred within 140 kb of DNA upstream from C2. In contrast, no gene was found within the 175-kb interval between BAT1 and HLA-B, which is relatively devoid of CPG-rich sequences. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2813433" 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="#3" class="mim-tip-reference" title="Bronson, S. K., Pei, J., Taillon-Miller, P., Chorney, M. J., Geraghty, D. E., Chaplin, D. D. <strong>Isolation and characterization of yeast artificial chromosome clones linking the HLA-B and HLA-C loci.</strong> Proc. Nat. Acad. Sci. 88: 1676-1680, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2000377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2000377</a>] [<a href="https://doi.org/10.1073/pnas.88.5.1676" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2000377">Bronson et al. (1991)</a> isolated yeast artificial chromosome (YAC) clones carrying the HLA-B and HLA-C (<a href="/entry/142840">142840</a>) genes. The loci were found to be located about 85 kb apart, each in close association with a CpG island. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2000377" 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="#13" class="mim-tip-reference" title="Fleischhauer, K., Kernan, N. A., O'Reilly, R. J., Dupont, B., Yang, S. Y. <strong>Bone marrow-allograft rejection by T lymphocytes recognizing a single amino acid difference in HLA-B44.</strong> New Eng. J. Med. 323: 1818-1822, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2247120/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2247120</a>] [<a href="https://doi.org/10.1056/NEJM199012273232607" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2247120">Fleischhauer et al. (1990)</a> demonstrated that a single amino acid difference in the HLA-B molecule is sufficient for the development of alloreactivity in vivo. They reported the case of a 29-year-old man with chronic myelogenous leukemia who received a bone marrow transplant from an unrelated female donor who was serologically HLA identical and compatible in mixed lymphocyte culture. However, they differed with respect to HLA-B44 subtypes B44.1 and B44.2, which were distinguishable by their characteristic band patterns in isoelectric-focusing (IEF) gel electrophoresis. The IEF difference, based on differences in charged amino acids, was found to be due to leucine versus aspartic acid at position 156. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2247120" 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="#26" class="mim-tip-reference" title="Leinders-Zufall, T., Brennan, P., Widmayer, P., Chandramani S., P., Maul-Pavicic, A., Jager, M., Li, X.-H., Breer, H., Zufall, F., Boehm, T. <strong>MHC class I peptides as chemosensory signals in the vomeronasal organ.</strong> Science 306: 1033-1037, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15528444/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15528444</a>] [<a href="https://doi.org/10.1126/science.1102818" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15528444">Leinders-Zufall et al. (2004)</a> showed that small peptides that serve as ligands for MHC class I molecules function also as sensory stimuli for a subset of vomeronasal sensory neurons located in the basal G-alpha-o- (<a href="/entry/139311">139311</a>) and V2R receptor (see <a href="/entry/605234">605234</a>)-expressing zone of the vomeronasal epithelium. In behaving mice, the same peptides function as individuality signals underlying mate recognition in the context of pregnancy block. MHC peptides constitute a previously unknown family of chemosensory stimuli by which MHC genotypic diversity can influence social behavior. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15528444" 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><strong><em>HLA Bw4 and Bw6 Epitopes</em></strong></p><p>
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<a href="#27" class="mim-tip-reference" title="Lutz, C. T. <strong>Human leukocyte antigen Bw4 and Bw6 epitopes recognized by antibodies and natural killer cells.</strong> Curr. Opin. Organ Transplant. 19: 436-441, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24977435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24977435</a>] [<a href="https://doi.org/10.1097/MOT.0000000000000103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24977435">Lutz (2014)</a> reviewed HLA Bw4 and Bw6. As a result of transplantation, blood transfusion, or pregnancy, people are immunized and produce antibodies to 'private' epitopes, which are shared by few other HLA allele products, or 'public' epitopes, which are encoded by many HLA alleles. The most prominent public epitopes are Bw4 and Bw6. Either the Bw4 or the Bw6 epitope is expressed by virtually all HLA-B molecules, and Bw4 is also found on a few HLA-A proteins. <a href="#36" class="mim-tip-reference" title="Parham, P., Norman, P. J., Abi-Rached, L., Guethlein, L. A. <strong>Human-specific evolution of killer cell immunoglobulin-like receptor recognition of major histocompatibility complex class I molecules.</strong> Phil. Trans. Roy. Soc. London B Biol. Sci. 367: 800-811, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22312047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22312047</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22312047[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/10.1098/rstb.2011.0266" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22312047">Parham et al. (2012)</a> reported that Bw4, along with HLA-A3, HLA-A11, HLA-C1, and HLA-C2, is a KIR (e.g., KIR3DL1; <a href="/entry/604946">604946</a>) ligand. <a href="#18" class="mim-tip-reference" title="Habegger de Sorrentino, A., Sinchi, J. L., Marinic, K., Lopez, R., Iliovich, E. <strong>KIR-HLA-A and B alleles of the Bw4 epitope against HIV infection in discordant heterosexual couples in Chaco Argentina.</strong> Immunology 140: 273-279, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23789883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23789883</a>] [<a href="https://doi.org/10.1111/imm.12137" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23789883">Habegger de Sorrentino et al. (2013)</a> listed 14 HLA-B alleles and 4 HLA-A alleles expressing Bw4 epitopes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24977435+23789883+22312047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Association with Protection from Severe Malaria</em></strong></p><p>
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By means of a large case-controlled study of malaria (see <a href="/entry/611162">611162</a>) in West African children, <a href="#20" class="mim-tip-reference" title="Hill, A. V. S., Allsopp, C. E. M., Kwiatkowski, D., Anstey, N. M., Twumasi, P., Rowe, P. A., Bennett, S., Brewster, D., McMichael, A. J., Greenwood, B. M. <strong>Common West African HLA antigens are associated with protection from severe malaria.</strong> Nature 352: 595-600, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1865923/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1865923</a>] [<a href="https://doi.org/10.1038/352595a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1865923">Hill et al. (1991)</a> showed that HLA-Bw53 and the HLA class II haplotype, DRB1*1302/DQB1*0501, (see HLA-DRB1, <a href="/entry/142857">142857</a>) are independently associated with protection from severe malaria. The antigens listed are common in West Africans but rare in other racial groups. In this population, they account for as great a reduction in disease incidence as the sickle-cell hemoglobin variant. Although the relative strength of the protection is less than that of the sickle-cell variant, the greater frequency of the DQB1 (see HLA-DQB1, <a href="/entry/604305">604305</a>) polymorphism makes the net effect on resistance to malaria comparable. The findings support the hypothesis that the extraordinary polymorphism of major histocompatibility complex genes has evolved primarily through natural selection by infectious pathogens. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1865923" 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="#21" class="mim-tip-reference" title="Hill, A. V. S., Elvin, J., Willis, A. C., Aidoo, M., Allsopp, C. E. M., Gotch, F. M., Gao, X. M., Takiguchi, M., Greenwood, B. M., Townsend, A. R. M., McMichael, A. J., Whittle, H. C. <strong>Molecular analysis of the association of HLA-B53 and resistance to severe malaria.</strong> Nature 360: 434-439, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1280333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1280333</a>] [<a href="https://doi.org/10.1038/360434a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1280333">Hill et al. (1992)</a> further investigated the protective association between HLA-B53 and severe malaria by sequencing peptides eluted from this molecule followed by screening of candidate epitopes from pre-erythrocytic-stage antigens of Plasmodium falciparum in biochemical and cellular assays. Among malaria-immune Africans, they found that HLA-B53-restricted cytotoxic T lymphocytes recognized a conserved nonamer peptide from liver-stage-specific antigen-1 (LSA-1), but no HLA-B53-restricted epitopes were identified in other malaria antigens. The findings of this 'reverse immunogenetic' approach indicated a possible molecular basis for this HLA-disease association and supported the candidacy of LSA-1 as a component for a malaria vaccine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1280333" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Association with HIV-1 Disease Progression</em></strong></p><p>
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<a href="#5" class="mim-tip-reference" title="Carrington, M., Nelson, G. W., Martin, M. P., Kissner, T., Vlahov, D., Goedert, J. J., Kaslow, R., Buchbinder, S., Hoots, K., O'Brien, S. J. <strong>HLA and HIV-1: heterozygote advantage and B*35-Cw*04 disadvantage.</strong> Science 283: 1748-1752, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10073943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10073943</a>] [<a href="https://doi.org/10.1126/science.283.5408.1748" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10073943">Carrington et al. (1999)</a> reported that the extended survival of 28 to 40% of HIV-1-infected Caucasian patients who avoided AIDS for 10 or more years (see <a href="/entry/609423">609423</a>) could be attributed to their being fully heterozygous at HLA class I loci, to lacking the AIDS-associated alleles B*35 and Cw*04, or to both. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10073943" 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="#15" class="mim-tip-reference" title="Gao, X., Nelson, G. W., Karacki, P., Martin, M. P., Phair, J., Kaslow, R., Goedert, J. J., Buchbinder, S., Hoots, K., Vlahov, D., O'Brien, S. J., Carrington, M. <strong>Effect of a single amino acid change in MHC class I molecules on the rate of progression to AIDS.</strong> New Eng. J. Med. 344: 1668-1675, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11386265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11386265</a>] [<a href="https://doi.org/10.1056/NEJM200105313442203" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11386265">Gao et al. (2001)</a> examined subtypes of HLA-B*35 in 5 cohorts and analyzed the relation of structural differences between subtypes to the risk of progression to AIDS. Two subtypes were identified according to peptide-binding specificity: the HLA-B*35-PY group, which consists primarily of HLA-B*3501 and binds epitopes with proline in position 2 and tyrosine in position 9; and the more broadly reactive HLA-B*35-Px group, which also binds epitopes with proline in position 2 but combines several different amino acids (not including tyrosine) in position 9. The influence of HLA-B*35 in accelerating progression to AIDS was completely attributable to HLA-B*35-Px alleles, some of which differ from HLA-B*35-Py alleles by only 1 amino acid residue. <a href="#15" class="mim-tip-reference" title="Gao, X., Nelson, G. W., Karacki, P., Martin, M. P., Phair, J., Kaslow, R., Goedert, J. J., Buchbinder, S., Hoots, K., Vlahov, D., O'Brien, S. J., Carrington, M. <strong>Effect of a single amino acid change in MHC class I molecules on the rate of progression to AIDS.</strong> New Eng. J. Med. 344: 1668-1675, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11386265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11386265</a>] [<a href="https://doi.org/10.1056/NEJM200105313442203" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11386265">Gao et al. (2001)</a> concluded that the previously observed association of HLA-Cw*04 with progression to AIDS was due to its linkage disequilibrium with HLA-B*35-Px alleles. The fact that the association with B*35-Px was observed in both blacks and whites supported the hypothesis that these HLA-B alleles exert an effect on the immune response to HIV-1 infection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11386265" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Gao, X., Bashirova, A., Iversen, A. K. N., Phair, J., Goedert, J. J., Buchbinder, S., Hoots, K., Vlahov, D., Altfeld, M., O'Brien, S. J., Carrington, M. <strong>AIDS restriction HLA allotypes target distinct intervals of HIV-1 pathogenesis.</strong> Nature Med. 11: 1290-1292, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16288280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16288280</a>] [<a href="https://doi.org/10.1038/nm1333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16288280">Gao et al. (2005)</a> found that HLA-B alleles acted during distinct intervals after HIV infection. HLA-B35-Px and HLA-B57 were associated with rate of progression to 4 outcomes: (1) progression to CD4+ T cells less than 200 (CD4 less than 200), (2) CD4 less than 200 and/or an AIDS-defining illness, (3) an AIDS-defining illness, and (4) death. HLA-B27 (<a href="#0001">142830.0001</a>), on the other hand, was only associated with the last 3 outcomes. Protection mediated by HLA-B57 occurred early after infection, whereas HLA-B27-mediated protection instead delayed progression to an AIDS-defining illness after the decline in CD4 counts. HLA-B35-Px showed an early susceptibility effect associated with rapid progression from seroconversion to CD4 less than 200. <a href="#14" class="mim-tip-reference" title="Gao, X., Bashirova, A., Iversen, A. K. N., Phair, J., Goedert, J. J., Buchbinder, S., Hoots, K., Vlahov, D., Altfeld, M., O'Brien, S. J., Carrington, M. <strong>AIDS restriction HLA allotypes target distinct intervals of HIV-1 pathogenesis.</strong> Nature Med. 11: 1290-1292, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16288280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16288280</a>] [<a href="https://doi.org/10.1038/nm1333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16288280">Gao et al. (2005)</a> proposed that the presence of the various HLA-B alleles may lead to different scenarios for viral escape from cytotoxic T-lymphocyte pressure and virus subtypes with different fitnesses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16288280" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#31" class="mim-tip-reference" title="Martin, M. P., Gao, X., Lee, J.-H., Nelson, G. W., Detels, R., Goedert, J. J., Buchbinder, S., Hoots, K., Vlahov, D., Trowsdale, J., Wilson, M., O'Brien, S. J., Carrington, M. <strong>Epistatic interaction between KIR3DS1 and HLA-B delays the progression to AIDS.</strong> Nature Genet. 31: 429-434, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12134147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12134147</a>] [<a href="https://doi.org/10.1038/ng934" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12134147">Martin et al. (2002)</a> reported that the activating KIR allele KIR3DS1 (<a href="/entry/620778">620778</a>), in combination with HLA-B alleles that encode molecules with isoleucine at position 80 (HLA-B Bw4-80Ile), is associated with delayed progression to AIDS in individuals infected with HIV-1. In the absence of KIR3DS1, the HLA-B Bw4-80Ile allele was not associated with any of the AIDS outcomes measured. By contrast, in the absence of HLA-B Bw4-80Ile alleles, KIR3DS1 was significantly associated with more rapid progression to AIDS. These observations strongly suggested a model involving an epistatic interaction between the 2 loci. The strongest synergistic effect of these loci was on progression to depletion of CD4+ T cells, which suggested that a protective response of NK cells involving KIR3DS1 and its HLA class I ligands begins soon after HIV-1 infection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12134147" 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="#25" class="mim-tip-reference" title="Kiepiela, P., Leslie, A. J., Honeyborne, I., Ramduth, D., Thobakgale, C., Chetty, S., Rathnavalu, P., Moore, C., Pfafferott, K. J., Hilton, L., Zimbwa, P., Moore, S., and 16 others. <strong>Dominant influence of HLA-B in mediating the potential co-evolution of HIV and HLA.</strong> Nature 432: 769-774, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15592417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15592417</a>] [<a href="https://doi.org/10.1038/nature03113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15592417">Kiepiela et al. (2004)</a> performed a comprehensive analysis of class I restricted CD8+ T cell responses against HIV-1, immune control of which depended upon virus-specific CD8+ T cell activity. In 375 HIV-1 infected study subjects from southern Africa, a significantly greater number of CD8+ T cell responses were HLA-B restricted compared to HLA-A (<a href="/entry/142800">142800</a>) (2.5-fold; P = 0.0033). <a href="#25" class="mim-tip-reference" title="Kiepiela, P., Leslie, A. J., Honeyborne, I., Ramduth, D., Thobakgale, C., Chetty, S., Rathnavalu, P., Moore, C., Pfafferott, K. J., Hilton, L., Zimbwa, P., Moore, S., and 16 others. <strong>Dominant influence of HLA-B in mediating the potential co-evolution of HIV and HLA.</strong> Nature 432: 769-774, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15592417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15592417</a>] [<a href="https://doi.org/10.1038/nature03113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15592417">Kiepiela et al. (2004)</a> showed that variation in viral set point, in absolute CD4 count and, by inference, in rate of disease progression in the cohort, was strongly associated with particular HLA-B but not HLA-A allele expression (P less than 0.0001 and P = 0.91, respectively). Moreover, substantially greater selection pressure was imposed on HIV-1 by HLA-B alleles than by HLA-A (4.4-fold, P = 0.0003). <a href="#25" class="mim-tip-reference" title="Kiepiela, P., Leslie, A. J., Honeyborne, I., Ramduth, D., Thobakgale, C., Chetty, S., Rathnavalu, P., Moore, C., Pfafferott, K. J., Hilton, L., Zimbwa, P., Moore, S., and 16 others. <strong>Dominant influence of HLA-B in mediating the potential co-evolution of HIV and HLA.</strong> Nature 432: 769-774, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15592417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15592417</a>] [<a href="https://doi.org/10.1038/nature03113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15592417">Kiepiela et al. (2004)</a> concluded that their data indicated that the principal focus of HIV-specific activity is at the HLA-B locus. Furthermore, HLA-B gene frequencies in the population are those likely to be most influenced by HIV disease, consistent with the observation that B alleles evolve more rapidly than A alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15592417" 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>By testing the effects on HIV disease progression and viral load of inhibitory KIR3DL1 subtypes in combination with HLA-B allelic groups, <a href="#32" class="mim-tip-reference" title="Martin, M. P., Qi, Y., Gao, X., Yamada, E., Martin, J. N., Pereyra, F., Colombo, S., Brown, E. E., Shupert, W. L., Phair, J., Goedert, J. J., Buchbinder, S., and 9 others. <strong>Innate partnership of HLA-B and KIR3DL1 subtypes against HIV-1.</strong> Nature Genet. 39: 733-740, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17496894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17496894</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17496894[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/ng2035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17496894">Martin et al. (2007)</a> determined that highly expressed, highly inhibitory KIR3DL1*h alleles strongly enhance protection conferred by HLA-Bw4-80Ile alleles, including HLA-B*57. <a href="#32" class="mim-tip-reference" title="Martin, M. P., Qi, Y., Gao, X., Yamada, E., Martin, J. N., Pereyra, F., Colombo, S., Brown, E. E., Shupert, W. L., Phair, J., Goedert, J. J., Buchbinder, S., and 9 others. <strong>Innate partnership of HLA-B and KIR3DL1 subtypes against HIV-1.</strong> Nature Genet. 39: 733-740, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17496894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17496894</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17496894[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/ng2035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17496894">Martin et al. (2007)</a> proposed that greater dependency on the expression of specific KIR3DL1-Bw4 receptor-ligand pairs for NK cell inhibition in the resting state results in more pronounced NK cell responses when the inhibition is abrogated in the face of infection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17496894" 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>To define host genetic effects on the outcome of a chronic viral infection, <a href="#45" class="mim-tip-reference" title="The International HIV Controllers Study. <strong>The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.</strong> Science 330: 1551-1557, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21051598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21051598</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21051598[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/10.1126/science.1195271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21051598">The International HIV Controllers Study (2010)</a> performed genomewide association analysis in a multiethnic cohort of HIV-1 controllers and progressors, and analyzed the effects of individual amino acids within the classical human leukocyte antigen (HLA) proteins. <a href="#45" class="mim-tip-reference" title="The International HIV Controllers Study. <strong>The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.</strong> Science 330: 1551-1557, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21051598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21051598</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21051598[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/10.1126/science.1195271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21051598">The International HIV Controllers Study (2010)</a> identified more than 300 genomewide significant SNPs within the MHC and none elsewhere. Specific amino acids in the HLA-B peptide binding groove, at positions 62, 63, 67, 70, and 97, as well as an independent HLA-C effect, explained the SNP associations and reconciled both protective and risk HLA alleles. <a href="#45" class="mim-tip-reference" title="The International HIV Controllers Study. <strong>The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.</strong> Science 330: 1551-1557, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21051598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21051598</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21051598[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/10.1126/science.1195271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21051598">The International HIV Controllers Study (2010)</a> concluded that their results implicated the nature of the HLA-viral peptide interaction as the major factor modulating durable control of HIV infection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21051598" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Association with Abacavir Hypersensitivity</em></strong></p><p>
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Abacavir is a commonly used nucleoside analog with potent antiviral activity against HIV-1. Approximately 5 to 9% of patients treated with abacavir develop a hypersensitivity reaction characterized by multisystem involvement that can be fatal in rare cases (<a href="#28" class="mim-tip-reference" title="Mallal, S., Nolan, D., Witt, C., Masel, G., Martin, A. M., Moore, C., Sayer, D., Castley, A., Mamotte, C., Maxwell, D., James, I., Christiansen, F. T. <strong>Association between presence of HLA-B*5701, HLA-DR7, and HLA-DQ3 and hypersensitivity to HIV-1 reverse-transcriptase inhibitor abacavir.</strong> Lancet 359: 727-732, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11888582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11888582</a>] [<a href="https://doi.org/10.1016/s0140-6736(02)07873-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11888582">Mallal et al., 2002</a>; <a href="#19" class="mim-tip-reference" title="Hetherington, S., Hughes, A. R., Mosteller, M., Shortino, D., Baker, K. L., Spreen, W., Lai, E., Davies, K., Handley, A., Dow, D. J., Fling, M. E., Stocum, M., Bowman, C., Thurmond, L. M., Roses, A. D. <strong>Genetic variations in HLA-B region and hypersensitivity reactions to abacavir.</strong> Lancet 359: 1121-1122, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11943262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11943262</a>] [<a href="https://doi.org/10.1016/S0140-6736(02)08158-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11943262">Hetherington et al., 2002</a>). Symptoms usually appear within the first 6 weeks of treatment and include fever, rash, gastrointestinal symptoms, and lethargy or malaise. Symptoms related to the hypersensitivity reaction worsen with continued therapy and improve within 72 hours of discontinuation of abacavir. Rechallenging with abacavir after a hypersensitivity reaction typically results in recurrence of symptoms within hours. Genetic predisposition for this idiosyncratic hypersensitivity syndrome was suggested by its occurrence in a small percentage of abacavir recipients during a short period of drug exposure, and familial occurrence and decreased incidence in individuals of African American origin (<a href="#44" class="mim-tip-reference" title="Symonds, W., Cutrell, A., Edwards, M., Steel, H., Spreen, B., Powell, G., McGuirk, S., Hetherington, S. <strong>Risk factor analysis of hypersensitivity reactions to abacavir.</strong> Clin. Ther. 24: 565-573, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12017401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12017401</a>] [<a href="https://doi.org/10.1016/s0149-2918(02)85132-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12017401">Symonds et al., 2002</a>). Consistent with these clinical observations, a strong predictive association of HLA-B*5701 (<a href="#0003">142830.0003</a>) was demonstrated, with further evidence from recombinant haplotype mapping that the susceptibility locus or loci reside specifically with the 57.1 ancestral haplotype, identified by the haplospecific alleles HLA-B*5701 and C4A6 (see <a href="/entry/120810">120810</a>) and the HLA-DRB1*0701, HLA-DQ3 combination (<a href="#28" class="mim-tip-reference" title="Mallal, S., Nolan, D., Witt, C., Masel, G., Martin, A. M., Moore, C., Sayer, D., Castley, A., Mamotte, C., Maxwell, D., James, I., Christiansen, F. T. <strong>Association between presence of HLA-B*5701, HLA-DR7, and HLA-DQ3 and hypersensitivity to HIV-1 reverse-transcriptase inhibitor abacavir.</strong> Lancet 359: 727-732, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11888582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11888582</a>] [<a href="https://doi.org/10.1016/s0140-6736(02)07873-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11888582">Mallal et al., 2002</a>). <a href="#30" class="mim-tip-reference" title="Martin, A. M., Nolan, D., Gaudieri, S., Almeida, C. A., Nolan, R., James, I., Carvalho, F., Phillips, E., Christiansen, F. T., Purcell, A. W., McCluskey, J., Mallal, S. <strong>Predisposition to abacavir hypersensitivity conferred by HLA-B*5701 and a haplotypic Hsp70-Hom variant.</strong> Proc. Nat. Acad. Sci. 101: 4180-4185, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15024131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15024131</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15024131[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/10.1073/pnas.0307067101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15024131">Martin et al. (2004)</a> reported that the combination of HLA-B*5701 and a haplotypic M493T polymorphism of HSP70-HOM (<a href="/entry/140559">140559</a>) is highly predictive of abacavir hypersensitivity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15024131+12017401+11888582+11943262" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Association with Ankylosing Spondylitis</em></strong></p><p>
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In a study of 15 multiplex families with ankylosing spondylitis (<a href="/entry/106300">106300</a>), Rubin et al. (<a href="#39" class="mim-tip-reference" title="Rubin, L. R., Amos, C. I., Falk-Wade, J., Martin, J., Bonney, G. E., Bale, S. J., Gladman, D., Siminovitch, K., Little, H., Rubinstein, J. <strong>Linkage studies of class I MHC region genes in ankylosing spondylitis. (Abstract)</strong> Am. J. Hum. Genet. 51 (suppl.): A34 only, 1992."None>1992</a>, <a href="#38" class="mim-tip-reference" title="Rubin, L. A., Amos, C. I., Wade, J. A., Martin, J. R., Bale, S. J., Little, A. H., Gladman, D. D., Bonney, G. E., Rubenstein, J. D., Siminovitch, K. A. <strong>Investigating the genetic basis for ankylosing spondylitis: linkage studies with the major histocompatibility complex region.</strong> Arthritis Rheum. 37: 1212-1220, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8053961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8053961</a>] [<a href="https://doi.org/10.1002/art.1780370816" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8053961">1994</a>) found that 13 of 15 affected females and 46 of 49 affected males were HLA-B27 (<a href="#0001">142830.0001</a>) positive, as compared with 22 of 43 unaffected females and 16 of 40 unaffected males. The risk of ankylosing spondylitis for homozygotes was placed at 99.5% and for heterozygotes at 43% with a sporadic risk of 0.1%. The B27 haplotype did not consistently segregate with disease in 2 families, but both families still supported linkage to the major histocompatibility complex. Identity-by-descent analyses showed a significant departure from random segregation among affected avuncular (uncle/nephew-niece) and cousin pairs. The presence of HLA-B40 in HLA-B27 positive individuals increased the risk for disease more than 3-fold, confirming previous reports. Disease susceptibility modeling suggested an autosomal dominant pattern of inheritance with penetrance of approximately 20%. In this study, which involved families from Toronto and Newfoundland, B27 alleles were detected by hybridization with sequence-specific oligonucleotide probes after amplification of genomic DNA by PCR. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8053961" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Association with Age-Related Macular Degeneration</em></strong></p><p>
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<a href="#17" class="mim-tip-reference" title="Goverdhan, S. V., Howell, M. W., Mullins, R. F., Osmond, C., Hodgkins, P. R., Self, J., Avery, K., Lotery, A. J. <strong>Association of HLA class I and class II polymorphisms with age-related macular degeneration.</strong> Invest. Ophthal. Vis. Sci. 46: 1726-1734, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15851575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15851575</a>] [<a href="https://doi.org/10.1167/iovs.04-0928" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15851575">Goverdhan et al. (2005)</a> investigated whether HLA genotypes were associated with age-related macular degeneration (ARMD; see <a href="/entry/603075">603075</a>). They genotyped class I HLA-A, -B, and -Cw (see <a href="/entry/142840">142840</a>) and class II DRB1 (<a href="/entry/142857">142857</a>) and DQB1 (<a href="/entry/604305">604305</a>) in 200 patients with ARMD, as well as in controls. Allele Cw*0701 correlated positively with ARMD, whereas alleles B*4001 and DRB1*1301 were negatively associated. These HLA associations were independent of any linkage disequilibrium. <a href="#17" class="mim-tip-reference" title="Goverdhan, S. V., Howell, M. W., Mullins, R. F., Osmond, C., Hodgkins, P. R., Self, J., Avery, K., Lotery, A. J. <strong>Association of HLA class I and class II polymorphisms with age-related macular degeneration.</strong> Invest. Ophthal. Vis. Sci. 46: 1726-1734, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15851575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15851575</a>] [<a href="https://doi.org/10.1167/iovs.04-0928" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15851575">Goverdhan et al. (2005)</a> concluded that HLA polymorphisms influenced the development of ARMD and proposed modulation of choroidal immune function as a possible mechanism for this effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15851575" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Association with Type I Diabetes</em></strong></p><p>
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<a href="#35" class="mim-tip-reference" title="Nejentsev, S., Howson, J. M. M., Walker, N. M., Szesko, J., Field, S. F., Stevens, H. E., Reynolds, P., Hardy, M., King, E., Masters, J., Hulme, J., Maier, L. M., and 8 others. <strong>Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A.</strong> Nature 450: 887-892, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18004301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18004301</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18004301[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/nature06406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18004301">Nejentsev et al. (2007)</a> used several large type I diabetes data sets to analyze a combined total of 1,729 polymorphisms, and applied statistical methods--recursive partitioning and regression--to pinpoint disease susceptibility to the MHC class I genes HLA-B and HLA-A (<a href="/entry/142800">142800</a>) (risk ratios greater than 1.5; P(combined) = 2.01 x 10(-19) and 2.35 x 10(-13), respectively) in addition to the established associations of the MHC class II genes HLA-DQB1 (<a href="/entry/604305">604305</a>) and HLA-DRB1 (<a href="/entry/142857">142857</a>). <a href="#35" class="mim-tip-reference" title="Nejentsev, S., Howson, J. M. M., Walker, N. M., Szesko, J., Field, S. F., Stevens, H. E., Reynolds, P., Hardy, M., King, E., Masters, J., Hulme, J., Maier, L. M., and 8 others. <strong>Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A.</strong> Nature 450: 887-892, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18004301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18004301</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18004301[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/nature06406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18004301">Nejentsev et al. (2007)</a> suggested that other loci with smaller and/or rarer effects might also be involved, but to find these future searches must take into account both the HLA class II and class I genes and use even larger samples. Taken together with previous studies, <a href="#35" class="mim-tip-reference" title="Nejentsev, S., Howson, J. M. M., Walker, N. M., Szesko, J., Field, S. F., Stevens, H. E., Reynolds, P., Hardy, M., King, E., Masters, J., Hulme, J., Maier, L. M., and 8 others. <strong>Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A.</strong> Nature 450: 887-892, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18004301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18004301</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18004301[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/nature06406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18004301">Nejentsev et al. (2007)</a> concluded that MHC class I-mediated events, principally involving HLA-B*39, contribute to the etiology of type I diabetes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18004301" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Association with Chronic Synovitis</em></strong></p><p>
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Chronic synovitis occurs in about 10% of Indian patients with severe hemophilia (HEMA, <a href="/entry/306700">306700</a>; HEMB, <a href="/entry/306900">306900</a>). <a href="#16" class="mim-tip-reference" title="Ghosh, K., Shankarkumar, U., Shetty, S., Mohanty, D. <strong>Chronic synovitis and HLA B27 in patients with severe haemophilia.</strong> Lancet 361: 933-934, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12648975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12648975</a>] [<a href="https://doi.org/10.1016/S0140-6736(03)12763-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12648975">Ghosh et al. (2003)</a> reported an association between the development of chronic synovitis in patients with hemophilia and the HLA-B27 allele (<a href="#0001">142830.0001</a>). Twenty-one (64%) of 33 patients with both disorders had HLA-B27, compared to 23 (5%) of 440 with severe hemophilia without synovitis (odds ratio of 31.6). There were 3 sib pairs with hemophilia in whom only 1 sib had synovitis; all the affected sibs had the HLA-B27 allele, whereas the unaffected sibs did not. Chronic synovitis presented as swelling of the joint with heat and redness and absence of response to treatment with factor concentrate. <a href="#16" class="mim-tip-reference" title="Ghosh, K., Shankarkumar, U., Shetty, S., Mohanty, D. <strong>Chronic synovitis and HLA B27 in patients with severe haemophilia.</strong> Lancet 361: 933-934, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12648975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12648975</a>] [<a href="https://doi.org/10.1016/S0140-6736(03)12763-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12648975">Ghosh et al. (2003)</a> suggested that patients with HLA-B27 may not be able to easily downregulate inflammatory mediators after bleeding in the joints, leading to chronic synovitis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12648975" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Association with Severe Cutaneous Adverse Reaction</em></strong></p><p>
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<a href="#7" class="mim-tip-reference" title="Chung, W.-H., Hung, S.-I., Hong, H.-S., Hsih, M.-S., Yang, L.-C., Ho, H.-C., Wu, J.-Y., Chen, Y.-T. <strong>A marker for Stevens-Johnson syndrome.</strong> Nature 428: 486 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15057820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15057820</a>] [<a href="https://doi.org/10.1038/428486a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15057820">Chung et al. (2004)</a> studied 44 patients with carbamazepine-induced Stevens-Johnson syndrome (<a href="/entry/608579">608579</a>), including 5 with overlapping toxic epidermal necrolysis, in whom the clinical morphology fulfilled Roujeau's diagnostic criteria (<a href="#37" class="mim-tip-reference" title="Roujeau, J.-C. <strong>The spectrum of Stevens-Johnson syndrome and toxic epidermal necrolysis: a clinical classification.</strong> J. Invest. Derm. 102: 28S-30S, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8006430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8006430</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12388434" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8006430">Roujeau, 1994</a>). Controls included 101 patients who had been treated with carbamazepine for at least 3 months without adverse reaction and 93 normal individuals. All participants were Han Chinese residing in Taiwan. One hundred percent of the patients who developed Stevens-Johnson syndrome carried the HLA-B*1502 allele (<a href="#0002">142830.0002</a>), while only 3% of the carbamazepine-tolerant individuals and 8.6% of the normal controls carried this allele. When the carbamazepine-tolerant group was used as the control, the presence of HLA-B*1502 had a 93.6% positive predictive value for developing carbamazepine-induced Stevens-Johnson syndrome, whereas its absence had a negative prediction value of 100%. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8006430+15057820" 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>To identify genetic markers for allopurinol-induced severe cutaneous adverse reaction (SCAR; <a href="/entry/608579">608579</a>), <a href="#24" class="mim-tip-reference" title="Hung, S.-I., Chung, W.-H., Liou, L.-B., Chu, C.-C., Lin, M., Huang, H.-P., Lin, Y.-L., Lan, J.-L., Yang, L.-C., Hong, H.-S., Chen, M.-J., Lai, P.-C., Wu, M.-S., Chu, C.-Y., Wang, K.-H., Chen, C.-H., Fann, C. S. J., Wu, J.-Y., Chen, Y.-T. <strong>HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol.</strong> Proc. Nat. Acad. Sci. 102: 4134-4139, 2005. Note: Erratum: Proc. Nat. Acad. Sci. 102: 6237 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15743917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15743917</a>] [<a href="https://doi.org/10.1073/pnas.0409500102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15743917">Hung et al. (2005)</a> genotyped 51 patients with allopurinol-SCAR and 228 controls (135 allopurinol-tolerant patients and 93 healthy individuals) for 823 SNPs in genes related to drug metabolism and immune response. All participants were unrelated Han Chinese residing in Taiwan. The HLA-B*5801 allele (<a href="#0004">142830.0004</a>) was present in all 51 of the patients with allopurinol-SCAR, but in only 15% of allopurinol-tolerant controls and 20% of healthy controls (p = 4.7 x 10(-24) and p = 8.1 x 10(-18), respectively). <a href="#24" class="mim-tip-reference" title="Hung, S.-I., Chung, W.-H., Liou, L.-B., Chu, C.-C., Lin, M., Huang, H.-P., Lin, Y.-L., Lan, J.-L., Yang, L.-C., Hong, H.-S., Chen, M.-J., Lai, P.-C., Wu, M.-S., Chu, C.-Y., Wang, K.-H., Chen, C.-H., Fann, C. S. J., Wu, J.-Y., Chen, Y.-T. <strong>HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol.</strong> Proc. Nat. Acad. Sci. 102: 4134-4139, 2005. Note: Erratum: Proc. Nat. Acad. Sci. 102: 6237 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15743917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15743917</a>] [<a href="https://doi.org/10.1073/pnas.0409500102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15743917">Hung et al. (2005)</a> concluded that the HLA-B*5801 allele is an important genetic risk factor for severe cutaneous adverse reactions to allopurinol in the Han Chinese population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15743917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Association with Drug-Induced Liver Injury due to Flucloxacillin</em></strong></p><p>
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In a genomewide association study of 51 patients with flucloxacillin-induced liver injury and 282 controls, <a href="#11" class="mim-tip-reference" title="Daly, A. K., Donaldson, P. T., Bhatnagar, P., Shen, Y., Pe'er, I., Floratos, A., Daly, M. J., Goldstein, D. B., John, S., Nelson, M. R., Graham, J., Park, B. K., Dillon, J. F., Bernal, W., Cordell, H. J., Pirmohamed, M., Aithal, G. P., Day, C. P., International SAE Consortium. <strong>HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin.</strong> Nature Genet. 41: 816-819, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19483685/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19483685</a>] [<a href="https://doi.org/10.1038/ng.379" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19483685">Daly et al. (2009)</a> found an association with <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2395029;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2395029</a> in the HCP5 gene (<a href="/entry/604676">604676</a>) in the MHC region (p = 8.7 x 10(-33)). The SNP is in complete linkage disequilibrium with HLA-B*5701 (<a href="#0003">142830.0003</a>). Further MHC genotyping of 64 flucloxacillin-tolerant controls confirmed the association with HLA-B*5701 (odds ratio of 80.6; p = 9.0 x 10(-19)). The association was replicated in a second cohort of 23 patients. In HLA-B*5701 carriers, <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs10937275;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs10937275</a> in the ST6GAL1 (<a href="/entry/109675">109675</a>) gene on chromosome 3q also showed genomewide significance (odds ratio of 4.1; p = 1.4 x 10(-8)). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19483685" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Association with Chronic Thromboembolic Pulmonary Hypertension without Deep Vein Thrombosis</em></strong></p><p>
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For a discussion of a possible association between variation in the HLA-B gene and chronic thromboembolic pulmonary hypertension (CTEPH) without deep vein thrombosis, see <a href="/entry/612862">612862</a>.</p><p><strong><em>Association with Tuberculosis</em></strong></p><p>
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Using direct sequencing, <a href="#40" class="mim-tip-reference" title="Salie, M., van der Merwe, L., Moller, M., Daya, M., van der Spuy, G., van Helden, P. D., Martin, M. P., Gao, X., Warren, R. M., Carrington, M., Hoal, E. G. <strong>Associations between human leukocyte antigen class I variants and the Mycobacterium tuberculosis subtypes causing disease.</strong> J. Infect. Dis. 209: 216-223, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23945374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23945374</a>] [<a href="https://doi.org/10.1093/infdis/jit443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23945374">Salie et al. (2014)</a> typed the HLA class I alleles from 300 South African patients with tuberculosis (TB; see <a href="/entry/607948">607948</a>). The patients were recruited from suburban Cape Town, where TB prevalence is high, HIV infection is low, and the population is highly admixed. <a href="#40" class="mim-tip-reference" title="Salie, M., van der Merwe, L., Moller, M., Daya, M., van der Spuy, G., van Helden, P. D., Martin, M. P., Gao, X., Warren, R. M., Carrington, M., Hoal, E. G. <strong>Associations between human leukocyte antigen class I variants and the Mycobacterium tuberculosis subtypes causing disease.</strong> J. Infect. Dis. 209: 216-223, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23945374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23945374</a>] [<a href="https://doi.org/10.1093/infdis/jit443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23945374">Salie et al. (2014)</a> also genotyped the Mycobacterium tuberculosis (Mtb) strains in each patient. They found that the Beijing Mtb strain occurred more frequently in individuals with multiple disease episodes and that the HLA-B27 allele lowered the odds of having an additional episode and of developing an infection with another Mtb strain. <a href="#40" class="mim-tip-reference" title="Salie, M., van der Merwe, L., Moller, M., Daya, M., van der Spuy, G., van Helden, P. D., Martin, M. P., Gao, X., Warren, R. M., Carrington, M., Hoal, E. G. <strong>Associations between human leukocyte antigen class I variants and the Mycobacterium tuberculosis subtypes causing disease.</strong> J. Infect. Dis. 209: 216-223, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23945374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23945374</a>] [<a href="https://doi.org/10.1093/infdis/jit443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23945374">Salie et al. (2014)</a> showed that various HLA types were associated with strains originating from both the European American and East Asian lineages, suggesting coevolutionary events between host and pathogen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23945374" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Reviews</em></strong></p><p>
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<a href="#9" class="mim-tip-reference" title="Cooke, G. S., Hill, A. V. S. <strong>Genetics of susceptibility to human infectious disease.</strong> Nature Rev. Genet. 2: 967-977, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11733749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11733749</a>] [<a href="https://doi.org/10.1038/35103577" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11733749">Cooke and Hill (2001)</a> reviewed the genetics of susceptibility to human infectious disease. Association with class I HLA alleles and infectious disease have been demonstrated mainly with HLA-B: B8 with susceptibility to pulmonary tuberculosis, B35 with susceptibility to AIDS, B53 with resistance to severe malaria, and B57 with resistance to AIDS (see Table 3 of <a href="#9" class="mim-tip-reference" title="Cooke, G. S., Hill, A. V. S. <strong>Genetics of susceptibility to human infectious disease.</strong> Nature Rev. Genet. 2: 967-977, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11733749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11733749</a>] [<a href="https://doi.org/10.1038/35103577" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11733749">Cooke and Hill, 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11733749" 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>All Amerindian groups show limited HLA polymorphism which probably reflects the small founder populations that colonized America by overland migration from Asia 11,000 to 40,000 years ago. <a href="#2" class="mim-tip-reference" title="Belich, M. P., Madrigal, J. A., Hildebrand, W. H., Zemmour, J., Williams, R. C., Luz, R., Petzl-Erler, M. L., Parham, P. <strong>Unusual HLA-B alleles in two tribes of Brazilian Indians.</strong> Nature 357: 326-329, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1317015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1317015</a>] [<a href="https://doi.org/10.1038/357326a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1317015">Belich et al. (1992)</a> found that the nucleotide sequences of HLA-B alleles from 2 culturally and linguistically distinct tribes of Southern Brazil are distinct from those in Caucasian, Asian, and other populations. By comparison, the HLA-A (<a href="/entry/142800">142800</a>) and HLA-C alleles are similar. These results and those reported by <a href="#47" class="mim-tip-reference" title="Watkins, D. I., McAdam, S. N., Liu, X., Strang, C. R., Milford, E. L., Levine, C. G., Garber, T. L., Dogon, A. L., Lord, C. I., Ghim, S. H., Troup, G. M., Hughes, A. L., Letvin, N. L. <strong>New recombinant HLA-B alleles in a tribe of South American Amerindians indicate rapid evolution of MHC class I loci.</strong> Nature 357: 329-332, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1589035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1589035</a>] [<a href="https://doi.org/10.1038/357329a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1589035">Watkins et al. (1992)</a> from studies of a tribe in Ecuador showed that a marked evolution of HLA-B occurred after humans first entered South America. New alleles were formed through recombination between preexisting alleles, not by point mutation, giving rise to distinctive diversification of HLA-B in different South American Indian tribes. Segmental exchanges of this type, even if they occur at a lower frequency than point mutations, could be useful in the development of resistance to infectious disease, for example, inasmuch as the probability of an adaptively useful variant is much higher when there is segmental exchange of already structurally valid coding sequence rather than random point mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1589035+1317015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Although most of the human MHC loci are relatively stable, the HLA-B locus appears to be capable of rapid changes, especially in isolated populations. To investigate the mechanisms of HLA-B evolution, <a href="#33" class="mim-tip-reference" title="McAdam, S. N., Boyson, J. E., Liu, X., Garber, T. L., Hughes, A. L., Bontrop, R. E., Watkins, D. I. <strong>A uniquely high level of recombination at the HLA-B locus.</strong> Proc. Nat. Acad. Sci. 91: 5893-5897, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8016085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8016085</a>] [<a href="https://doi.org/10.1073/pnas.91.13.5893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8016085">McAdam et al. (1994)</a> compared the sequences of 19 HLA-B homologs from chimpanzees (Pan troglodytes) and bonobos (Pan paniscus) to 65 HLA-B sequences. Despite obvious similarities between chimpanzee and human alleles in exon 2, there was little conservation of exon 3 between human and the 2 chimpanzee species. This finding suggested to <a href="#33" class="mim-tip-reference" title="McAdam, S. N., Boyson, J. E., Liu, X., Garber, T. L., Hughes, A. L., Bontrop, R. E., Watkins, D. I. <strong>A uniquely high level of recombination at the HLA-B locus.</strong> Proc. Nat. Acad. Sci. 91: 5893-5897, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8016085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8016085</a>] [<a href="https://doi.org/10.1073/pnas.91.13.5893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8016085">McAdam et al. (1994)</a> that, unlike all other HLA loci, recombination has characterized the HLA-B locus and its homologs for over 5 million years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8016085" 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>By genotyping individuals from 30 distinct populations, <a href="#41" class="mim-tip-reference" title="Single, R. M., Martin, M. P., Gao, X., Meyer, D., Yeager, M., Kidd, J. R., Kidd, K. K., Carrington, M. <strong>Global diversity and evidence for coevolution of KIR and HLA.</strong> Nature Genet. 39: 1114-1119, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17694058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17694058</a>] [<a href="https://doi.org/10.1038/ng2077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17694058">Single et al. (2007)</a> detected strong negative correlations between the presence of activating KIR genes and their corresponding HLA ligand groups across populations, particularly for KIR3DS1 (<a href="/entry/604946">604946</a>) and its putative HLA-B Bw4-80Ile ligands. Weak positive relationships, on the other hand, were found between inhibitory KIR genes and their HLA ligands. A negative correlation was observed between distance from East Africa and the frequency of activating KIR genes and their corresponding ligands. <a href="#41" class="mim-tip-reference" title="Single, R. M., Martin, M. P., Gao, X., Meyer, D., Yeager, M., Kidd, J. R., Kidd, K. K., Carrington, M. <strong>Global diversity and evidence for coevolution of KIR and HLA.</strong> Nature Genet. 39: 1114-1119, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17694058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17694058</a>] [<a href="https://doi.org/10.1038/ng2077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17694058">Single et al. (2007)</a> concluded that activating, rather than inhibitory, receptor-ligand pairs show the strongest signature of coevolution between the complex KIR and HLA genetic systems. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17694058" 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>In a study of 15 multiplex families with ankylosing spondylitis (<a href="/entry/106300">106300</a>), Rubin et al. (<a href="#39" class="mim-tip-reference" title="Rubin, L. R., Amos, C. I., Falk-Wade, J., Martin, J., Bonney, G. E., Bale, S. J., Gladman, D., Siminovitch, K., Little, H., Rubinstein, J. <strong>Linkage studies of class I MHC region genes in ankylosing spondylitis. (Abstract)</strong> Am. J. Hum. Genet. 51 (suppl.): A34 only, 1992."None>1992</a>, <a href="#38" class="mim-tip-reference" title="Rubin, L. A., Amos, C. I., Wade, J. A., Martin, J. R., Bale, S. J., Little, A. H., Gladman, D. D., Bonney, G. E., Rubenstein, J. D., Siminovitch, K. A. <strong>Investigating the genetic basis for ankylosing spondylitis: linkage studies with the major histocompatibility complex region.</strong> Arthritis Rheum. 37: 1212-1220, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8053961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8053961</a>] [<a href="https://doi.org/10.1002/art.1780370816" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8053961">1994</a>) found that 13 of 15 affected females and 46 of 49 affected males were HLA-B27 positive, as compared with 22 of 43 unaffected females and 16 of 40 unaffected males. The risk of ankylosing spondylitis for homozygotes was placed at 99.5% and for heterozygotes at 43% with a sporadic risk of 0.1%. The B27 haplotype did not consistently segregate with disease in 2 families, but both families still supported linkage to the major histocompatibility complex. Identity-by-descent analyses showed a significant departure from random segregation among affected avuncular (uncle/nephew-niece) and cousin pairs. The presence of HLA-B40 in HLA-B27 positive individuals increased the risk for disease more than 3-fold, confirming previous reports. Disease susceptibility modeling suggested an autosomal dominant pattern of inheritance with penetrance of approximately 20%. In this study, which involved families from Toronto and Newfoundland, B27 alleles were detected by hybridization with sequence-specific oligonucleotide probes after amplification of genomic DNA by PCR. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8053961" 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>Chronic synovitis occurs in about 10% of Indian patients with severe hemophilia (HEMA, <a href="/entry/306700">306700</a>; HEMB, <a href="/entry/306900">306900</a>). <a href="#16" class="mim-tip-reference" title="Ghosh, K., Shankarkumar, U., Shetty, S., Mohanty, D. <strong>Chronic synovitis and HLA B27 in patients with severe haemophilia.</strong> Lancet 361: 933-934, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12648975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12648975</a>] [<a href="https://doi.org/10.1016/S0140-6736(03)12763-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12648975">Ghosh et al. (2003)</a> reported an association between the development of chronic synovitis in patients with hemophilia and the HLA-B27 allele. Twenty-one (64%) of 33 patients with both disorders had HLA-B27, compared to 23 (5%) of 440 with severe hemophilia without synovitis (odds ratio of 31.6). There were 3 sib pairs with hemophilia in whom only 1 sib had synovitis; all the affected sibs had the HLA-B27 allele, whereas the unaffected sibs did not. Chronic synovitis presented as swelling of the joint with heat and redness and absence of response to treatment with factor concentrate. <a href="#16" class="mim-tip-reference" title="Ghosh, K., Shankarkumar, U., Shetty, S., Mohanty, D. <strong>Chronic synovitis and HLA B27 in patients with severe haemophilia.</strong> Lancet 361: 933-934, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12648975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12648975</a>] [<a href="https://doi.org/10.1016/S0140-6736(03)12763-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12648975">Ghosh et al. (2003)</a> suggested that patients with HLA-B27 may not be able to easily downregulate inflammatory mediators after bleeding in the joints, leading to chronic synovitis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12648975" 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="Chung, W.-H., Hung, S.-I., Hong, H.-S., Hsih, M.-S., Yang, L.-C., Ho, H.-C., Wu, J.-Y., Chen, Y.-T. <strong>A marker for Stevens-Johnson syndrome.</strong> Nature 428: 486 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15057820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15057820</a>] [<a href="https://doi.org/10.1038/428486a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15057820">Chung et al. (2004)</a> studied 44 patients with carbamazepine-induced Stevens-Johnson syndrome (<a href="/entry/608579">608579</a>), including 5 with overlapping toxic epidermal necrolysis, in whom the clinical morphology fulfilled Roujeau's diagnostic criteria (<a href="#37" class="mim-tip-reference" title="Roujeau, J.-C. <strong>The spectrum of Stevens-Johnson syndrome and toxic epidermal necrolysis: a clinical classification.</strong> J. Invest. Derm. 102: 28S-30S, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8006430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8006430</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12388434" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8006430">Roujeau, 1994</a>). Controls included 101 patients who had been treated with carbamazepine for at least 3 months without adverse reaction and 93 normal individuals. All participants were Han Chinese residing in Taiwan. One hundred percent of the patients who developed Stevens-Johnson syndrome carried the HLA-B*1502 allele, while only 3% of the carbamazepine-tolerant individuals and 8.6% of the normal controls carried this allele. When the carbamazepine-tolerant group was used as the control, the presence of HLA-B*1502 had a 93.6% positive predictive value for developing carbamazepine-induced Stevens-Johnson syndrome, whereas its absence had a negative prediction value of 100%. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8006430+15057820" 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 expanded study of 60 Chinese patients with carbamazepine-induced Stevens-Johnson syndrome or toxic epidermal necrolysis, including the 44 patients reported by <a href="#7" class="mim-tip-reference" title="Chung, W.-H., Hung, S.-I., Hong, H.-S., Hsih, M.-S., Yang, L.-C., Ho, H.-C., Wu, J.-Y., Chen, Y.-T. <strong>A marker for Stevens-Johnson syndrome.</strong> Nature 428: 486 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15057820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15057820</a>] [<a href="https://doi.org/10.1038/428486a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15057820">Chung et al. (2004)</a>, <a href="#23" class="mim-tip-reference" title="Hung, S.-I., Chung, W.-H., Jee, S.-H., Chen, W.-C., Chang, Y.-T., Lee, W.-R., Hu, S.-L., Wu, M.-T., Chen, G.-S., Wong, T.-W., Hsiao, P.-F., Chen, W.-H., Shih, H.-Y., Fang, W.-H., Wei, C.-Y., Lou, Y.-H., Huang, Y.-L., Lin, J.-J., Chen, Y.-T. <strong>Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions.</strong> Pharmacogenet. Genomics 16: 297-306, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16538176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16538176</a>] [<a href="https://doi.org/10.1097/01.fpc.0000199500.46842.4a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16538176">Hung et al. (2006)</a> confirmed the association between drug reaction and the HLA-B*1502 allele (p = 1.6 x 10(-41), odds ratio of 1,357). Fifty-nine of the 60 patients had the susceptibility allele compared to 6 (4.2%) of 144 tolerant controls. There was no association between HLA-B*1502 and 31 patients with nonbullous adverse drug reactions, suggesting that HLA-B*1502 is specific for bullous phenotypes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15057820+16538176" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Chen, P., Lin, J.-J., Lu, C.-S., Ong, C.-T., Hsieh, P. F., Yang, C.-C., Tai, C.-T., Wu, S.-L., Lu, C.-H., Hsu, Y.-C., Yu, H.-Y., Ro, L.-S., and 21 others. <strong>Carbamazepine-induced toxic effects and HLA-B*1502 screening in Taiwan.</strong> New Eng. J. Med. 364: 1126-1133, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21428768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21428768</a>] [<a href="https://doi.org/10.1056/NEJMoa1009717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21428768">Chen et al. (2011)</a> recruited 4,877 candidate subjects from 23 hospitals in Taiwan who had not taken carbamazepine. All were genotyped to determine whether they carried the HLA-B*1502 allele. Those testing positive (7.7% of the total) were advised not to take carbamazepine. None of the 92.3% who were advised to take carbamazepine developed Stevens-Johnson syndrome or toxic epidermal necrolysis. The estimated historical incidence of carbamazepine-induced SJS-TEN (0.23%) would translate into approximately 10 cases among study subjects (P less than 0.001). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21428768" 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 42 Canadian children of diverse ancestries who experienced carbamazepine (CBZ)-induced hypersensitivity reactions and 91 CBZ-tolerant control children, <a href="#1" class="mim-tip-reference" title="Amstutz, U., Ross, C. J. D., Castro-Pastrana, L. I., Rieder, M. J., Shear, N. H., Hayden, M. R., Carleton, B. C., the CPNDS Consortium. <strong>HLA-A*31:01 and HLA-B*15:02 as genetic markers for carbamazepine hypersensitivity in children.</strong> Clin. Pharm. Ther. 94: 142-149, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23588310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23588310</a>] [<a href="https://doi.org/10.1038/clpt.2013.55" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23588310">Amstutz et al. (2013)</a> found that HLA-B*1502 was associated with CBZ-SJS (OR, 38.6; p = 0.002) but not with hypersensitivity syndrome (HSS) or maculopapular exanthema (MPE). All 3 HLA-B*1502-positive patients with CBZ-SJS/TEN were of Asian origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23588310" 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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs2395029 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2395029;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs2395029?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2395029" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2395029" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000016042 OR RCV000016043 OR RCV003313923" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016042, RCV000016043, RCV003313923" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016042...</a>
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<p>Abacavir is an HIV reverse transcriptase inhibitor used in combination with other antivirals in the treatment of HIV infection. Its efficacy is equivalent to other HIV drugs, such as HIV protease inhibitors, and different combinations of drugs are used in clinical practice depending on patient response, side effects, and drug resistance profiles. Hypersensitivity reactions occur in approximately 5% of abacavir patients and are characterized by symptoms such as fever, rash, and acute respiratory symptoms, and can lead to potentially life-threatening hypotension if drug therapy is not discontinued (<a href="#8" class="mim-tip-reference" title="Clay, P. G. <strong>The abacavir hypersensitivity reaction: a review.</strong> Clin. Ther. 24: 1502-1514, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12462283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12462283</a>] [<a href="https://doi.org/10.1016/s0149-2918(02)80057-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12462283">Clay, 2002</a>). <a href="#46" class="mim-tip-reference" title="Veenstra, D. L. <strong>Bringing genomics to the bedside: a cost-effective pharmacogenomic test?</strong> Pharmacogenetics 14: 333-334, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15247624/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15247624</a>] [<a href="https://doi.org/10.1097/00008571-200406000-00001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15247624">Veenstra (2004)</a> noted that 2 studies had shown that patients with the HLA-B*5701 genotype are at greater risk of a hypersensitivity reaction, with an odds ratio of 117 (95% CI = 29-481) in 1 study (<a href="#28" class="mim-tip-reference" title="Mallal, S., Nolan, D., Witt, C., Masel, G., Martin, A. M., Moore, C., Sayer, D., Castley, A., Mamotte, C., Maxwell, D., James, I., Christiansen, F. T. <strong>Association between presence of HLA-B*5701, HLA-DR7, and HLA-DQ3 and hypersensitivity to HIV-1 reverse-transcriptase inhibitor abacavir.</strong> Lancet 359: 727-732, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11888582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11888582</a>] [<a href="https://doi.org/10.1016/s0140-6736(02)07873-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11888582">Mallal et al., 2002</a>) and 23.6 (95% CI = 8-70) in another (<a href="#19" class="mim-tip-reference" title="Hetherington, S., Hughes, A. R., Mosteller, M., Shortino, D., Baker, K. L., Spreen, W., Lai, E., Davies, K., Handley, A., Dow, D. J., Fling, M. E., Stocum, M., Bowman, C., Thurmond, L. M., Roses, A. D. <strong>Genetic variations in HLA-B region and hypersensitivity reactions to abacavir.</strong> Lancet 359: 1121-1122, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11943262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11943262</a>] [<a href="https://doi.org/10.1016/S0140-6736(02)08158-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11943262">Hetherington et al., 2002</a>). <a href="#22" class="mim-tip-reference" title="Hughes, D. A., Vilar, F. J., Ward, C. C., Alfirevic, A., Park, B. K., Pirmohamed, M. <strong>Cost-effectiveness analysis of HLA B*5701 genotyping in preventing abacavir hypersensitivity.</strong> Pharmacogenetics 14: 335-342, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15247625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15247625</a>] [<a href="https://doi.org/10.1097/00008571-200406000-00002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15247625">Hughes et al. (2004)</a> presented a cost-effectiveness analysis of HLA-B*5701 genotyping in preventing abacavir hypersensitivity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12462283+11943262+15247625+11888582+15247624" 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="#30" class="mim-tip-reference" title="Martin, A. M., Nolan, D., Gaudieri, S., Almeida, C. A., Nolan, R., James, I., Carvalho, F., Phillips, E., Christiansen, F. T., Purcell, A. W., McCluskey, J., Mallal, S. <strong>Predisposition to abacavir hypersensitivity conferred by HLA-B*5701 and a haplotypic Hsp70-Hom variant.</strong> Proc. Nat. Acad. Sci. 101: 4180-4185, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15024131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15024131</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15024131[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/10.1073/pnas.0307067101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15024131">Martin et al. (2004)</a> reported that the combination of HLA-B*5701 and a haplotypic M493T polymorphism of HSP70-HOM (<a href="/entry/140559">140559</a>) is highly predictive of abacavir hypersensitivity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15024131" 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="#29" class="mim-tip-reference" title="Mallal, S., Phillips, E., Carosi, G., Molina, J.-M., Workman, C., Tomazic, J., Jagel-Guedes, E., Rugina, S., Kozyrev, O., Cid, J. F., Hay, P., Nolan, D., Hughes, S., Hughes, A., Ryan, S., Fitch, N., Thorborn, D., Benbow, A. <strong>HLA-B*5701 screening for hypersensitivity to abacavir.</strong> New Eng. J. Med. 358: 568-579, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18256392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18256392</a>] [<a href="https://doi.org/10.1056/NEJMoa0706135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18256392">Mallal et al. (2008)</a> found that HLA-B*5701 screening reduced the risk of hypersensitivity reaction to abacavir used in the treatment of HIV infection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18256392" 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 genomewide association study of 51 patients with flucloxacillin-induced liver injury and 282 controls, <a href="#11" class="mim-tip-reference" title="Daly, A. K., Donaldson, P. T., Bhatnagar, P., Shen, Y., Pe'er, I., Floratos, A., Daly, M. J., Goldstein, D. B., John, S., Nelson, M. R., Graham, J., Park, B. K., Dillon, J. F., Bernal, W., Cordell, H. J., Pirmohamed, M., Aithal, G. P., Day, C. P., International SAE Consortium. <strong>HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin.</strong> Nature Genet. 41: 816-819, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19483685/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19483685</a>] [<a href="https://doi.org/10.1038/ng.379" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19483685">Daly et al. (2009)</a> found an association with <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2395029;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2395029</a> in the MHC region (p = 8.7 x 10(-33)). The SNP is in complete linkage disequilibrium with HLA-B*5701. Further MHC genotyping of 64 flucloxacillin-tolerant controls confirmed the association with HLA-B*5701 (odds ratio of 80.6; p = 9.0 x 10(-19)). The association was replicated in a second cohort of 23 patients. In HLA-B*5701 carriers, <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs10937275;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs10937275</a> in the ST6GAL1 (<a href="/entry/109675">109675</a>) gene on chromosome 3q also showed genomewide significance (odds ratio of 4.1; p = 1.4 x 10(-8)). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19483685" 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>To identify genetic markers for allopurinol-induced severe cutaneous adverse reaction (SCAR; <a href="/entry/608579">608579</a>), <a href="#24" class="mim-tip-reference" title="Hung, S.-I., Chung, W.-H., Liou, L.-B., Chu, C.-C., Lin, M., Huang, H.-P., Lin, Y.-L., Lan, J.-L., Yang, L.-C., Hong, H.-S., Chen, M.-J., Lai, P.-C., Wu, M.-S., Chu, C.-Y., Wang, K.-H., Chen, C.-H., Fann, C. S. J., Wu, J.-Y., Chen, Y.-T. <strong>HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol.</strong> Proc. Nat. Acad. Sci. 102: 4134-4139, 2005. Note: Erratum: Proc. Nat. Acad. Sci. 102: 6237 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15743917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15743917</a>] [<a href="https://doi.org/10.1073/pnas.0409500102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15743917">Hung et al. (2005)</a> genotyped 51 patients with allopurinol-SCAR and 228 controls (135 allopurinol-tolerant patients and 93 healthy individuals) for 823 SNPs in genes related to drug metabolism and immune response. All participants were unrelated Han Chinese residing in Taiwan. The HLA-B*5801 allele was present in all 51 of the patients with allopurinol-SCAR, but in only 15% of allopurinol-tolerant controls and 20% of healthy controls (p = 4.7 x 10(-24) and p = 8.1 x 10(-18), respectively). <a href="#24" class="mim-tip-reference" title="Hung, S.-I., Chung, W.-H., Liou, L.-B., Chu, C.-C., Lin, M., Huang, H.-P., Lin, Y.-L., Lan, J.-L., Yang, L.-C., Hong, H.-S., Chen, M.-J., Lai, P.-C., Wu, M.-S., Chu, C.-Y., Wang, K.-H., Chen, C.-H., Fann, C. S. J., Wu, J.-Y., Chen, Y.-T. <strong>HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol.</strong> Proc. Nat. Acad. Sci. 102: 4134-4139, 2005. Note: Erratum: Proc. Nat. Acad. Sci. 102: 6237 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15743917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15743917</a>] [<a href="https://doi.org/10.1073/pnas.0409500102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15743917">Hung et al. (2005)</a> concluded that the HLA-B*5801 allele is an important genetic risk factor for severe cutaneous adverse reactions to allopurinol in the Han Chinese population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15743917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Coppin1985" class="mim-tip-reference" title="Coppin, H. L., Denny, D. W., Jr., Weissman, S. M., McDevitt, H. O. <strong>HLA-B locus polymorphism: studies with a specific hybridization probe.</strong> Proc. Nat. Acad. Sci. 82: 8614-8618, 1985.">Coppin et al. (1985)</a>; <a href="#Mickelson1976" class="mim-tip-reference" title="Mickelson, E. M., Petersons, J. S., Flournoy, N., Clift, R. A., Thomas, E. D. <strong>An estimate of the recombination frequency between the B locus within the major histocompatibility complex.</strong> Tissue Antigens 8: 247-252, 1976.">Mickelson et al. (1976)</a>
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Coppin, H. L., Denny, D. W., Jr., Weissman, S. M., McDevitt, H. O.
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[<a href="https://doi.org/10.1073/pnas.82.24.8614" target="_blank">Full Text</a>]
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Daly, A. K., Donaldson, P. T., Bhatnagar, P., Shen, Y., Pe'er, I., Floratos, A., Daly, M. J., Goldstein, D. B., John, S., Nelson, M. R., Graham, J., Park, B. K., Dillon, J. F., Bernal, W., Cordell, H. J., Pirmohamed, M., Aithal, G. P., Day, C. P., International SAE Consortium.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19483685/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19483685</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19483685" 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.379" target="_blank">Full Text</a>]
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Dunham, I., Sargent, C. A., Trowsdale, J., Campbell, R. D.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2247120/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2247120</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2247120" 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/NEJM199012273232607" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1167/iovs.04-0928" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/00008571-200406000-00001" target="_blank">Full Text</a>]
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</p>
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</li>
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<li>
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<a id="47" class="mim-anchor"></a>
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<a id="Watkins1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Watkins, D. I., McAdam, S. N., Liu, X., Strang, C. R., Milford, E. L., Levine, C. G., Garber, T. L., Dogon, A. L., Lord, C. I., Ghim, S. H., Troup, G. M., Hughes, A. L., Letvin, N. L.
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<strong>New recombinant HLA-B alleles in a tribe of South American Amerindians indicate rapid evolution of MHC class I loci.</strong>
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Nature 357: 329-332, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1589035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1589035</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1589035" 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/10.1038/357329a0" target="_blank">Full Text</a>]
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</p>
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</ol>
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<a id="contributors" class="mim-anchor"></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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Paul J. Converse - updated : 3/19/2015
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Paul J. Converse - updated : 11/10/2014<br>Marla J. F. O'Neill - updated : 7/1/2014<br>Ada Hamosh - updated : 6/7/2011<br>Ada Hamosh - updated : 1/19/2011<br>Cassandra L. Kniffin - updated : 8/5/2009<br>Cassandra L. Kniffin - updated : 6/22/2009<br>Ada Hamosh - updated : 4/24/2008<br>Victor A. McKusick - updated : 3/10/2008<br>Paul J. Converse - updated : 12/6/2007<br>Paul J. Converse - updated : 12/6/2007<br>Cassandra L. Kniffin - updated : 11/13/2007<br>Cassandra L. Kniffin - updated : 10/30/2007<br>Paul J. Converse - updated : 3/31/2006<br>Jane Kelly - updated : 11/21/2005<br>Ada Hamosh - updated : 7/20/2005<br>Marla J. F. O'Neill - updated : 4/29/2005<br>Ada Hamosh - updated : 3/3/2005<br>Ada Hamosh - updated : 1/19/2005<br>Victor A. McKusick - updated : 10/4/2004<br>Victor A. McKusick - updated : 4/28/2004<br>Ada Hamosh - updated : 4/7/2004<br>Anne M. Stumpf - updated : 4/23/2003<br>Victor A. McKusick - updated : 2/14/2002<br>Victor A. McKusick - updated : 6/25/2001<br>Ada Hamosh - updated : 3/24/1999
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</span>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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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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Victor A. McKusick : 6/4/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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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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mgross : 04/03/2024
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 04/03/2024<br>carol : 08/09/2023<br>carol : 08/08/2023<br>carol : 08/20/2019<br>alopez : 04/25/2017<br>carol : 07/20/2015<br>mgross : 4/2/2015<br>mcolton : 3/19/2015<br>mgross : 11/12/2014<br>mcolton : 11/10/2014<br>carol : 7/1/2014<br>mcolton : 7/1/2014<br>terry : 12/20/2012<br>alopez : 6/13/2011<br>terry : 6/7/2011<br>carol : 5/23/2011<br>alopez : 1/19/2011<br>terry : 1/19/2011<br>carol : 7/27/2010<br>wwang : 4/13/2010<br>mgross : 3/29/2010<br>mgross : 3/25/2010<br>wwang : 8/18/2009<br>ckniffin : 8/5/2009<br>wwang : 6/26/2009<br>ckniffin : 6/22/2009<br>alopez : 5/8/2008<br>terry : 4/24/2008<br>terry : 3/10/2008<br>alopez : 12/6/2007<br>alopez : 12/6/2007<br>wwang : 11/20/2007<br>ckniffin : 11/13/2007<br>wwang : 11/12/2007<br>ckniffin : 10/30/2007<br>mgross : 7/5/2007<br>carol : 2/28/2007<br>alopez : 1/17/2007<br>mgross : 3/31/2006<br>alopez : 11/21/2005<br>alopez : 7/20/2005<br>terry : 7/20/2005<br>mgross : 6/16/2005<br>carol : 5/18/2005<br>wwang : 5/12/2005<br>wwang : 5/5/2005<br>terry : 4/29/2005<br>alopez : 3/4/2005<br>terry : 3/3/2005<br>tkritzer : 2/4/2005<br>wwang : 2/3/2005<br>wwang : 2/1/2005<br>wwang : 1/27/2005<br>terry : 1/19/2005<br>carol : 1/18/2005<br>tkritzer : 1/18/2005<br>terry : 10/4/2004<br>tkritzer : 5/5/2004<br>terry : 4/28/2004<br>alopez : 4/13/2004<br>terry : 4/7/2004<br>carol : 4/6/2004<br>alopez : 4/23/2003<br>cwells : 2/21/2002<br>cwells : 2/15/2002<br>terry : 2/14/2002<br>terry : 6/25/2001<br>carol : 2/24/2000<br>alopez : 12/3/1999<br>alopez : 3/24/1999<br>alopez : 5/29/1998<br>psherman : 5/4/1998<br>jason : 7/12/1994<br>carol : 1/7/1993<br>carol : 1/6/1993<br>carol : 6/26/1992<br>carol : 6/23/1992<br>supermim : 3/16/1992
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</span>
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<h3>
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<span class="mim-font">
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<strong>+</strong> 142830
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B
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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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<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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<div>
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<h4>
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<span class="mim-font">
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HLA-B HISTOCOMPATIBILITY TYPE
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</span>
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</h4>
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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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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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ABACAVIR HYPERSENSITIVITY, SUSCEPTIBILITY TO, INCLUDED
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</span>
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<div>
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<span class="h4 mim-font">
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SYNOVITIS, CHRONIC, SUSCEPTIBILITY TO, INCLUDED<br />
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DRUG-INDUCED LIVER INJURY DUE TO FLUCLOXACILLIN, INCLUDED
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</span>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: HLA-B</em></strong>
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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: 6p21.33
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Genomic coordinates <span class="small">(GRCh38)</span> : 6:31,353,875-31,357,179 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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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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<strong>Gene-Phenotype 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 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>
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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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</tr>
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<tbody>
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<tr>
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<td rowspan="6">
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<span class="mim-font">
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6p21.33
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</td>
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<td>
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<span class="mim-font">
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{Abacavir hypersensitivity, susceptibility to}
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<td>
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<span class="mim-font">
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<td>
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<span class="mim-font">
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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{Drug-induced liver injury due to flucloxacillin}
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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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</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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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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{Spondyloarthropathy, susceptibility to, 1}
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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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106300
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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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Multifactorial
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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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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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{Stevens-Johnson syndrome, susceptibility to}
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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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608579
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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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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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{Synovitis, chronic, susceptibility to}
|
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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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</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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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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{Toxic epidermal necrolysis, susceptibility to}
|
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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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608579
|
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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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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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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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<h4>
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<span class="mim-font">
|
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<strong>TEXT</strong>
|
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</span>
|
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</h4>
|
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<span class="mim-text-font">
|
|
<p>For background information on the major histocompatibility complex (MHC) and human leukocyte antigens (HLAs), see HLA-A (142800).</p>
|
|
</span>
|
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<div>
|
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<br />
|
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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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<strong>Mapping</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>Cann et al. (1983) found a restriction fragment that segregated with HLA-B8. Either the fragment carried the B8 specificity or represented another class I gene (or pseudogene) in linkage disequilibrium with HLA-B8. </p><p>Dunham et al. (1987) used pulsed-field gel electrophoresis and 'cosmid walking' to establish a molecular map of the MHC region. They concluded that the MHC spans 3,800 kb. The HLA-B locus lies about 250 kb on the telomeric side of the tumor necrosis factor genes (see TNFA; 191160). </p><p>Spies et al. (1989) found that the HLA-B gene is 210 kb from the TNFA and TNFB (153440) genes. The class III gene C2 is separated from the HLA-B gene by 600 kb. </p><p>Spies et al. (1989) concluded that a 600-kb DNA segment between C2 and HLA-B contains a minimum of 19 genes. In addition to BAT1 (142560) through BAT5 (142620), which had been localized to the vicinity of the TNFA and TNFB genes, 4 genes, called BAT6 through BAT9, were mapped near C2 within a 120-kb region that also includes a pair of heat-shock protein genes (see 140550). A large number of BssHII and SacII restriction sites, known to indicate the presence of multiple islands of CPG-rich sequences and in turn the association of expressed genes, occurred within 140 kb of DNA upstream from C2. In contrast, no gene was found within the 175-kb interval between BAT1 and HLA-B, which is relatively devoid of CPG-rich sequences. </p><p>Bronson et al. (1991) isolated yeast artificial chromosome (YAC) clones carrying the HLA-B and HLA-C (142840) genes. The loci were found to be located about 85 kb apart, each in close association with a CpG island. </p>
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</span>
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<div>
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<br />
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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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<strong>Gene Function</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Fleischhauer et al. (1990) demonstrated that a single amino acid difference in the HLA-B molecule is sufficient for the development of alloreactivity in vivo. They reported the case of a 29-year-old man with chronic myelogenous leukemia who received a bone marrow transplant from an unrelated female donor who was serologically HLA identical and compatible in mixed lymphocyte culture. However, they differed with respect to HLA-B44 subtypes B44.1 and B44.2, which were distinguishable by their characteristic band patterns in isoelectric-focusing (IEF) gel electrophoresis. The IEF difference, based on differences in charged amino acids, was found to be due to leucine versus aspartic acid at position 156. </p><p>Leinders-Zufall et al. (2004) showed that small peptides that serve as ligands for MHC class I molecules function also as sensory stimuli for a subset of vomeronasal sensory neurons located in the basal G-alpha-o- (139311) and V2R receptor (see 605234)-expressing zone of the vomeronasal epithelium. In behaving mice, the same peptides function as individuality signals underlying mate recognition in the context of pregnancy block. MHC peptides constitute a previously unknown family of chemosensory stimuli by which MHC genotypic diversity can influence social behavior. </p>
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</span>
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<div>
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<br />
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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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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>HLA Bw4 and Bw6 Epitopes</em></strong></p><p>
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Lutz (2014) reviewed HLA Bw4 and Bw6. As a result of transplantation, blood transfusion, or pregnancy, people are immunized and produce antibodies to 'private' epitopes, which are shared by few other HLA allele products, or 'public' epitopes, which are encoded by many HLA alleles. The most prominent public epitopes are Bw4 and Bw6. Either the Bw4 or the Bw6 epitope is expressed by virtually all HLA-B molecules, and Bw4 is also found on a few HLA-A proteins. Parham et al. (2012) reported that Bw4, along with HLA-A3, HLA-A11, HLA-C1, and HLA-C2, is a KIR (e.g., KIR3DL1; 604946) ligand. Habegger de Sorrentino et al. (2013) listed 14 HLA-B alleles and 4 HLA-A alleles expressing Bw4 epitopes. </p><p><strong><em>Association with Protection from Severe Malaria</em></strong></p><p>
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By means of a large case-controlled study of malaria (see 611162) in West African children, Hill et al. (1991) showed that HLA-Bw53 and the HLA class II haplotype, DRB1*1302/DQB1*0501, (see HLA-DRB1, 142857) are independently associated with protection from severe malaria. The antigens listed are common in West Africans but rare in other racial groups. In this population, they account for as great a reduction in disease incidence as the sickle-cell hemoglobin variant. Although the relative strength of the protection is less than that of the sickle-cell variant, the greater frequency of the DQB1 (see HLA-DQB1, 604305) polymorphism makes the net effect on resistance to malaria comparable. The findings support the hypothesis that the extraordinary polymorphism of major histocompatibility complex genes has evolved primarily through natural selection by infectious pathogens. </p><p>Hill et al. (1992) further investigated the protective association between HLA-B53 and severe malaria by sequencing peptides eluted from this molecule followed by screening of candidate epitopes from pre-erythrocytic-stage antigens of Plasmodium falciparum in biochemical and cellular assays. Among malaria-immune Africans, they found that HLA-B53-restricted cytotoxic T lymphocytes recognized a conserved nonamer peptide from liver-stage-specific antigen-1 (LSA-1), but no HLA-B53-restricted epitopes were identified in other malaria antigens. The findings of this 'reverse immunogenetic' approach indicated a possible molecular basis for this HLA-disease association and supported the candidacy of LSA-1 as a component for a malaria vaccine. </p><p><strong><em>Association with HIV-1 Disease Progression</em></strong></p><p>
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Carrington et al. (1999) reported that the extended survival of 28 to 40% of HIV-1-infected Caucasian patients who avoided AIDS for 10 or more years (see 609423) could be attributed to their being fully heterozygous at HLA class I loci, to lacking the AIDS-associated alleles B*35 and Cw*04, or to both. </p><p>Gao et al. (2001) examined subtypes of HLA-B*35 in 5 cohorts and analyzed the relation of structural differences between subtypes to the risk of progression to AIDS. Two subtypes were identified according to peptide-binding specificity: the HLA-B*35-PY group, which consists primarily of HLA-B*3501 and binds epitopes with proline in position 2 and tyrosine in position 9; and the more broadly reactive HLA-B*35-Px group, which also binds epitopes with proline in position 2 but combines several different amino acids (not including tyrosine) in position 9. The influence of HLA-B*35 in accelerating progression to AIDS was completely attributable to HLA-B*35-Px alleles, some of which differ from HLA-B*35-Py alleles by only 1 amino acid residue. Gao et al. (2001) concluded that the previously observed association of HLA-Cw*04 with progression to AIDS was due to its linkage disequilibrium with HLA-B*35-Px alleles. The fact that the association with B*35-Px was observed in both blacks and whites supported the hypothesis that these HLA-B alleles exert an effect on the immune response to HIV-1 infection. </p><p>Gao et al. (2005) found that HLA-B alleles acted during distinct intervals after HIV infection. HLA-B35-Px and HLA-B57 were associated with rate of progression to 4 outcomes: (1) progression to CD4+ T cells less than 200 (CD4 less than 200), (2) CD4 less than 200 and/or an AIDS-defining illness, (3) an AIDS-defining illness, and (4) death. HLA-B27 (142830.0001), on the other hand, was only associated with the last 3 outcomes. Protection mediated by HLA-B57 occurred early after infection, whereas HLA-B27-mediated protection instead delayed progression to an AIDS-defining illness after the decline in CD4 counts. HLA-B35-Px showed an early susceptibility effect associated with rapid progression from seroconversion to CD4 less than 200. Gao et al. (2005) proposed that the presence of the various HLA-B alleles may lead to different scenarios for viral escape from cytotoxic T-lymphocyte pressure and virus subtypes with different fitnesses. </p><p>Martin et al. (2002) reported that the activating KIR allele KIR3DS1 (620778), in combination with HLA-B alleles that encode molecules with isoleucine at position 80 (HLA-B Bw4-80Ile), is associated with delayed progression to AIDS in individuals infected with HIV-1. In the absence of KIR3DS1, the HLA-B Bw4-80Ile allele was not associated with any of the AIDS outcomes measured. By contrast, in the absence of HLA-B Bw4-80Ile alleles, KIR3DS1 was significantly associated with more rapid progression to AIDS. These observations strongly suggested a model involving an epistatic interaction between the 2 loci. The strongest synergistic effect of these loci was on progression to depletion of CD4+ T cells, which suggested that a protective response of NK cells involving KIR3DS1 and its HLA class I ligands begins soon after HIV-1 infection. </p><p>Kiepiela et al. (2004) performed a comprehensive analysis of class I restricted CD8+ T cell responses against HIV-1, immune control of which depended upon virus-specific CD8+ T cell activity. In 375 HIV-1 infected study subjects from southern Africa, a significantly greater number of CD8+ T cell responses were HLA-B restricted compared to HLA-A (142800) (2.5-fold; P = 0.0033). Kiepiela et al. (2004) showed that variation in viral set point, in absolute CD4 count and, by inference, in rate of disease progression in the cohort, was strongly associated with particular HLA-B but not HLA-A allele expression (P less than 0.0001 and P = 0.91, respectively). Moreover, substantially greater selection pressure was imposed on HIV-1 by HLA-B alleles than by HLA-A (4.4-fold, P = 0.0003). Kiepiela et al. (2004) concluded that their data indicated that the principal focus of HIV-specific activity is at the HLA-B locus. Furthermore, HLA-B gene frequencies in the population are those likely to be most influenced by HIV disease, consistent with the observation that B alleles evolve more rapidly than A alleles. </p><p>By testing the effects on HIV disease progression and viral load of inhibitory KIR3DL1 subtypes in combination with HLA-B allelic groups, Martin et al. (2007) determined that highly expressed, highly inhibitory KIR3DL1*h alleles strongly enhance protection conferred by HLA-Bw4-80Ile alleles, including HLA-B*57. Martin et al. (2007) proposed that greater dependency on the expression of specific KIR3DL1-Bw4 receptor-ligand pairs for NK cell inhibition in the resting state results in more pronounced NK cell responses when the inhibition is abrogated in the face of infection. </p><p>To define host genetic effects on the outcome of a chronic viral infection, The International HIV Controllers Study (2010) performed genomewide association analysis in a multiethnic cohort of HIV-1 controllers and progressors, and analyzed the effects of individual amino acids within the classical human leukocyte antigen (HLA) proteins. The International HIV Controllers Study (2010) identified more than 300 genomewide significant SNPs within the MHC and none elsewhere. Specific amino acids in the HLA-B peptide binding groove, at positions 62, 63, 67, 70, and 97, as well as an independent HLA-C effect, explained the SNP associations and reconciled both protective and risk HLA alleles. The International HIV Controllers Study (2010) concluded that their results implicated the nature of the HLA-viral peptide interaction as the major factor modulating durable control of HIV infection. </p><p><strong><em>Association with Abacavir Hypersensitivity</em></strong></p><p>
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Abacavir is a commonly used nucleoside analog with potent antiviral activity against HIV-1. Approximately 5 to 9% of patients treated with abacavir develop a hypersensitivity reaction characterized by multisystem involvement that can be fatal in rare cases (Mallal et al., 2002; Hetherington et al., 2002). Symptoms usually appear within the first 6 weeks of treatment and include fever, rash, gastrointestinal symptoms, and lethargy or malaise. Symptoms related to the hypersensitivity reaction worsen with continued therapy and improve within 72 hours of discontinuation of abacavir. Rechallenging with abacavir after a hypersensitivity reaction typically results in recurrence of symptoms within hours. Genetic predisposition for this idiosyncratic hypersensitivity syndrome was suggested by its occurrence in a small percentage of abacavir recipients during a short period of drug exposure, and familial occurrence and decreased incidence in individuals of African American origin (Symonds et al., 2002). Consistent with these clinical observations, a strong predictive association of HLA-B*5701 (142830.0003) was demonstrated, with further evidence from recombinant haplotype mapping that the susceptibility locus or loci reside specifically with the 57.1 ancestral haplotype, identified by the haplospecific alleles HLA-B*5701 and C4A6 (see 120810) and the HLA-DRB1*0701, HLA-DQ3 combination (Mallal et al., 2002). Martin et al. (2004) reported that the combination of HLA-B*5701 and a haplotypic M493T polymorphism of HSP70-HOM (140559) is highly predictive of abacavir hypersensitivity. </p><p><strong><em>Association with Ankylosing Spondylitis</em></strong></p><p>
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In a study of 15 multiplex families with ankylosing spondylitis (106300), Rubin et al. (1992, 1994) found that 13 of 15 affected females and 46 of 49 affected males were HLA-B27 (142830.0001) positive, as compared with 22 of 43 unaffected females and 16 of 40 unaffected males. The risk of ankylosing spondylitis for homozygotes was placed at 99.5% and for heterozygotes at 43% with a sporadic risk of 0.1%. The B27 haplotype did not consistently segregate with disease in 2 families, but both families still supported linkage to the major histocompatibility complex. Identity-by-descent analyses showed a significant departure from random segregation among affected avuncular (uncle/nephew-niece) and cousin pairs. The presence of HLA-B40 in HLA-B27 positive individuals increased the risk for disease more than 3-fold, confirming previous reports. Disease susceptibility modeling suggested an autosomal dominant pattern of inheritance with penetrance of approximately 20%. In this study, which involved families from Toronto and Newfoundland, B27 alleles were detected by hybridization with sequence-specific oligonucleotide probes after amplification of genomic DNA by PCR. </p><p><strong><em>Association with Age-Related Macular Degeneration</em></strong></p><p>
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Goverdhan et al. (2005) investigated whether HLA genotypes were associated with age-related macular degeneration (ARMD; see 603075). They genotyped class I HLA-A, -B, and -Cw (see 142840) and class II DRB1 (142857) and DQB1 (604305) in 200 patients with ARMD, as well as in controls. Allele Cw*0701 correlated positively with ARMD, whereas alleles B*4001 and DRB1*1301 were negatively associated. These HLA associations were independent of any linkage disequilibrium. Goverdhan et al. (2005) concluded that HLA polymorphisms influenced the development of ARMD and proposed modulation of choroidal immune function as a possible mechanism for this effect. </p><p><strong><em>Association with Type I Diabetes</em></strong></p><p>
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Nejentsev et al. (2007) used several large type I diabetes data sets to analyze a combined total of 1,729 polymorphisms, and applied statistical methods--recursive partitioning and regression--to pinpoint disease susceptibility to the MHC class I genes HLA-B and HLA-A (142800) (risk ratios greater than 1.5; P(combined) = 2.01 x 10(-19) and 2.35 x 10(-13), respectively) in addition to the established associations of the MHC class II genes HLA-DQB1 (604305) and HLA-DRB1 (142857). Nejentsev et al. (2007) suggested that other loci with smaller and/or rarer effects might also be involved, but to find these future searches must take into account both the HLA class II and class I genes and use even larger samples. Taken together with previous studies, Nejentsev et al. (2007) concluded that MHC class I-mediated events, principally involving HLA-B*39, contribute to the etiology of type I diabetes. </p><p><strong><em>Association with Chronic Synovitis</em></strong></p><p>
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Chronic synovitis occurs in about 10% of Indian patients with severe hemophilia (HEMA, 306700; HEMB, 306900). Ghosh et al. (2003) reported an association between the development of chronic synovitis in patients with hemophilia and the HLA-B27 allele (142830.0001). Twenty-one (64%) of 33 patients with both disorders had HLA-B27, compared to 23 (5%) of 440 with severe hemophilia without synovitis (odds ratio of 31.6). There were 3 sib pairs with hemophilia in whom only 1 sib had synovitis; all the affected sibs had the HLA-B27 allele, whereas the unaffected sibs did not. Chronic synovitis presented as swelling of the joint with heat and redness and absence of response to treatment with factor concentrate. Ghosh et al. (2003) suggested that patients with HLA-B27 may not be able to easily downregulate inflammatory mediators after bleeding in the joints, leading to chronic synovitis. </p><p><strong><em>Association with Severe Cutaneous Adverse Reaction</em></strong></p><p>
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Chung et al. (2004) studied 44 patients with carbamazepine-induced Stevens-Johnson syndrome (608579), including 5 with overlapping toxic epidermal necrolysis, in whom the clinical morphology fulfilled Roujeau's diagnostic criteria (Roujeau, 1994). Controls included 101 patients who had been treated with carbamazepine for at least 3 months without adverse reaction and 93 normal individuals. All participants were Han Chinese residing in Taiwan. One hundred percent of the patients who developed Stevens-Johnson syndrome carried the HLA-B*1502 allele (142830.0002), while only 3% of the carbamazepine-tolerant individuals and 8.6% of the normal controls carried this allele. When the carbamazepine-tolerant group was used as the control, the presence of HLA-B*1502 had a 93.6% positive predictive value for developing carbamazepine-induced Stevens-Johnson syndrome, whereas its absence had a negative prediction value of 100%. </p><p>To identify genetic markers for allopurinol-induced severe cutaneous adverse reaction (SCAR; 608579), Hung et al. (2005) genotyped 51 patients with allopurinol-SCAR and 228 controls (135 allopurinol-tolerant patients and 93 healthy individuals) for 823 SNPs in genes related to drug metabolism and immune response. All participants were unrelated Han Chinese residing in Taiwan. The HLA-B*5801 allele (142830.0004) was present in all 51 of the patients with allopurinol-SCAR, but in only 15% of allopurinol-tolerant controls and 20% of healthy controls (p = 4.7 x 10(-24) and p = 8.1 x 10(-18), respectively). Hung et al. (2005) concluded that the HLA-B*5801 allele is an important genetic risk factor for severe cutaneous adverse reactions to allopurinol in the Han Chinese population. </p><p><strong><em>Association with Drug-Induced Liver Injury due to Flucloxacillin</em></strong></p><p>
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In a genomewide association study of 51 patients with flucloxacillin-induced liver injury and 282 controls, Daly et al. (2009) found an association with rs2395029 in the HCP5 gene (604676) in the MHC region (p = 8.7 x 10(-33)). The SNP is in complete linkage disequilibrium with HLA-B*5701 (142830.0003). Further MHC genotyping of 64 flucloxacillin-tolerant controls confirmed the association with HLA-B*5701 (odds ratio of 80.6; p = 9.0 x 10(-19)). The association was replicated in a second cohort of 23 patients. In HLA-B*5701 carriers, rs10937275 in the ST6GAL1 (109675) gene on chromosome 3q also showed genomewide significance (odds ratio of 4.1; p = 1.4 x 10(-8)). </p><p><strong><em>Association with Chronic Thromboembolic Pulmonary Hypertension without Deep Vein Thrombosis</em></strong></p><p>
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For a discussion of a possible association between variation in the HLA-B gene and chronic thromboembolic pulmonary hypertension (CTEPH) without deep vein thrombosis, see 612862.</p><p><strong><em>Association with Tuberculosis</em></strong></p><p>
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Using direct sequencing, Salie et al. (2014) typed the HLA class I alleles from 300 South African patients with tuberculosis (TB; see 607948). The patients were recruited from suburban Cape Town, where TB prevalence is high, HIV infection is low, and the population is highly admixed. Salie et al. (2014) also genotyped the Mycobacterium tuberculosis (Mtb) strains in each patient. They found that the Beijing Mtb strain occurred more frequently in individuals with multiple disease episodes and that the HLA-B27 allele lowered the odds of having an additional episode and of developing an infection with another Mtb strain. Salie et al. (2014) showed that various HLA types were associated with strains originating from both the European American and East Asian lineages, suggesting coevolutionary events between host and pathogen. </p><p><strong><em>Reviews</em></strong></p><p>
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Cooke and Hill (2001) reviewed the genetics of susceptibility to human infectious disease. Association with class I HLA alleles and infectious disease have been demonstrated mainly with HLA-B: B8 with susceptibility to pulmonary tuberculosis, B35 with susceptibility to AIDS, B53 with resistance to severe malaria, and B57 with resistance to AIDS (see Table 3 of Cooke and Hill, 2001). </p>
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</span>
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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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<strong>Evolution</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>All Amerindian groups show limited HLA polymorphism which probably reflects the small founder populations that colonized America by overland migration from Asia 11,000 to 40,000 years ago. Belich et al. (1992) found that the nucleotide sequences of HLA-B alleles from 2 culturally and linguistically distinct tribes of Southern Brazil are distinct from those in Caucasian, Asian, and other populations. By comparison, the HLA-A (142800) and HLA-C alleles are similar. These results and those reported by Watkins et al. (1992) from studies of a tribe in Ecuador showed that a marked evolution of HLA-B occurred after humans first entered South America. New alleles were formed through recombination between preexisting alleles, not by point mutation, giving rise to distinctive diversification of HLA-B in different South American Indian tribes. Segmental exchanges of this type, even if they occur at a lower frequency than point mutations, could be useful in the development of resistance to infectious disease, for example, inasmuch as the probability of an adaptively useful variant is much higher when there is segmental exchange of already structurally valid coding sequence rather than random point mutation. </p><p>Although most of the human MHC loci are relatively stable, the HLA-B locus appears to be capable of rapid changes, especially in isolated populations. To investigate the mechanisms of HLA-B evolution, McAdam et al. (1994) compared the sequences of 19 HLA-B homologs from chimpanzees (Pan troglodytes) and bonobos (Pan paniscus) to 65 HLA-B sequences. Despite obvious similarities between chimpanzee and human alleles in exon 2, there was little conservation of exon 3 between human and the 2 chimpanzee species. This finding suggested to McAdam et al. (1994) that, unlike all other HLA loci, recombination has characterized the HLA-B locus and its homologs for over 5 million years. </p><p>By genotyping individuals from 30 distinct populations, Single et al. (2007) detected strong negative correlations between the presence of activating KIR genes and their corresponding HLA ligand groups across populations, particularly for KIR3DS1 (604946) and its putative HLA-B Bw4-80Ile ligands. Weak positive relationships, on the other hand, were found between inhibitory KIR genes and their HLA ligands. A negative correlation was observed between distance from East Africa and the frequency of activating KIR genes and their corresponding ligands. Single et al. (2007) concluded that activating, rather than inhibitory, receptor-ligand pairs show the strongest signature of coevolution between the complex KIR and HLA genetic systems. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>4 Selected Examples):</strong>
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</h4>
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<div>
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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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<strong>.0001 ANKYLOSING SPONDYLITIS, SUSCEPTIBILITY TO, 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SYNOVITIS, CHRONIC, SUSCEPTIBILITY TO, INCLUDED
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</span>
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</div>
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<span class="mim-text-font">
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HLA-B, HLA-B27
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ClinVar: RCV000016037, RCV000016038
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<p>In a study of 15 multiplex families with ankylosing spondylitis (106300), Rubin et al. (1992, 1994) found that 13 of 15 affected females and 46 of 49 affected males were HLA-B27 positive, as compared with 22 of 43 unaffected females and 16 of 40 unaffected males. The risk of ankylosing spondylitis for homozygotes was placed at 99.5% and for heterozygotes at 43% with a sporadic risk of 0.1%. The B27 haplotype did not consistently segregate with disease in 2 families, but both families still supported linkage to the major histocompatibility complex. Identity-by-descent analyses showed a significant departure from random segregation among affected avuncular (uncle/nephew-niece) and cousin pairs. The presence of HLA-B40 in HLA-B27 positive individuals increased the risk for disease more than 3-fold, confirming previous reports. Disease susceptibility modeling suggested an autosomal dominant pattern of inheritance with penetrance of approximately 20%. In this study, which involved families from Toronto and Newfoundland, B27 alleles were detected by hybridization with sequence-specific oligonucleotide probes after amplification of genomic DNA by PCR. </p><p>Chronic synovitis occurs in about 10% of Indian patients with severe hemophilia (HEMA, 306700; HEMB, 306900). Ghosh et al. (2003) reported an association between the development of chronic synovitis in patients with hemophilia and the HLA-B27 allele. Twenty-one (64%) of 33 patients with both disorders had HLA-B27, compared to 23 (5%) of 440 with severe hemophilia without synovitis (odds ratio of 31.6). There were 3 sib pairs with hemophilia in whom only 1 sib had synovitis; all the affected sibs had the HLA-B27 allele, whereas the unaffected sibs did not. Chronic synovitis presented as swelling of the joint with heat and redness and absence of response to treatment with factor concentrate. Ghosh et al. (2003) suggested that patients with HLA-B27 may not be able to easily downregulate inflammatory mediators after bleeding in the joints, leading to chronic synovitis. </p>
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<h4>
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<span class="mim-font">
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<strong>.0002 SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO</strong>
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</h4>
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<span class="mim-text-font">
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STEVENS-JOHNSON SYNDROME, SUSCEPTIBILITY TO, INCLUDED<br />
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TOXIC EPIDERMAL NECROLYSIS, SUSCEPTIBILITY TO, INCLUDED
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<span class="mim-text-font">
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HLA-B, HLA-B*1502
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ClinVar: RCV000016039, RCV000016041, RCV004576901
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<span class="mim-text-font">
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<p>Chung et al. (2004) studied 44 patients with carbamazepine-induced Stevens-Johnson syndrome (608579), including 5 with overlapping toxic epidermal necrolysis, in whom the clinical morphology fulfilled Roujeau's diagnostic criteria (Roujeau, 1994). Controls included 101 patients who had been treated with carbamazepine for at least 3 months without adverse reaction and 93 normal individuals. All participants were Han Chinese residing in Taiwan. One hundred percent of the patients who developed Stevens-Johnson syndrome carried the HLA-B*1502 allele, while only 3% of the carbamazepine-tolerant individuals and 8.6% of the normal controls carried this allele. When the carbamazepine-tolerant group was used as the control, the presence of HLA-B*1502 had a 93.6% positive predictive value for developing carbamazepine-induced Stevens-Johnson syndrome, whereas its absence had a negative prediction value of 100%. </p><p>In an expanded study of 60 Chinese patients with carbamazepine-induced Stevens-Johnson syndrome or toxic epidermal necrolysis, including the 44 patients reported by Chung et al. (2004), Hung et al. (2006) confirmed the association between drug reaction and the HLA-B*1502 allele (p = 1.6 x 10(-41), odds ratio of 1,357). Fifty-nine of the 60 patients had the susceptibility allele compared to 6 (4.2%) of 144 tolerant controls. There was no association between HLA-B*1502 and 31 patients with nonbullous adverse drug reactions, suggesting that HLA-B*1502 is specific for bullous phenotypes. </p><p>Chen et al. (2011) recruited 4,877 candidate subjects from 23 hospitals in Taiwan who had not taken carbamazepine. All were genotyped to determine whether they carried the HLA-B*1502 allele. Those testing positive (7.7% of the total) were advised not to take carbamazepine. None of the 92.3% who were advised to take carbamazepine developed Stevens-Johnson syndrome or toxic epidermal necrolysis. The estimated historical incidence of carbamazepine-induced SJS-TEN (0.23%) would translate into approximately 10 cases among study subjects (P less than 0.001). </p><p>In a study of 42 Canadian children of diverse ancestries who experienced carbamazepine (CBZ)-induced hypersensitivity reactions and 91 CBZ-tolerant control children, Amstutz et al. (2013) found that HLA-B*1502 was associated with CBZ-SJS (OR, 38.6; p = 0.002) but not with hypersensitivity syndrome (HSS) or maculopapular exanthema (MPE). All 3 HLA-B*1502-positive patients with CBZ-SJS/TEN were of Asian origin. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 ABACAVIR HYPERSENSITIVITY, SUSCEPTIBILITY TO</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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DRUG-INDUCED LIVER INJURY DUE TO FLUCLOXACILLIN, INCLUDED
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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HLA-B, HLA-B*5701
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<br />
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SNP: rs2395029,
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gnomAD: rs2395029,
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ClinVar: RCV000016042, RCV000016043, RCV003313923
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Abacavir is an HIV reverse transcriptase inhibitor used in combination with other antivirals in the treatment of HIV infection. Its efficacy is equivalent to other HIV drugs, such as HIV protease inhibitors, and different combinations of drugs are used in clinical practice depending on patient response, side effects, and drug resistance profiles. Hypersensitivity reactions occur in approximately 5% of abacavir patients and are characterized by symptoms such as fever, rash, and acute respiratory symptoms, and can lead to potentially life-threatening hypotension if drug therapy is not discontinued (Clay, 2002). Veenstra (2004) noted that 2 studies had shown that patients with the HLA-B*5701 genotype are at greater risk of a hypersensitivity reaction, with an odds ratio of 117 (95% CI = 29-481) in 1 study (Mallal et al., 2002) and 23.6 (95% CI = 8-70) in another (Hetherington et al., 2002). Hughes et al. (2004) presented a cost-effectiveness analysis of HLA-B*5701 genotyping in preventing abacavir hypersensitivity. </p><p>Martin et al. (2004) reported that the combination of HLA-B*5701 and a haplotypic M493T polymorphism of HSP70-HOM (140559) is highly predictive of abacavir hypersensitivity. </p><p>Mallal et al. (2008) found that HLA-B*5701 screening reduced the risk of hypersensitivity reaction to abacavir used in the treatment of HIV infection. </p><p>In a genomewide association study of 51 patients with flucloxacillin-induced liver injury and 282 controls, Daly et al. (2009) found an association with rs2395029 in the MHC region (p = 8.7 x 10(-33)). The SNP is in complete linkage disequilibrium with HLA-B*5701. Further MHC genotyping of 64 flucloxacillin-tolerant controls confirmed the association with HLA-B*5701 (odds ratio of 80.6; p = 9.0 x 10(-19)). The association was replicated in a second cohort of 23 patients. In HLA-B*5701 carriers, rs10937275 in the ST6GAL1 (109675) gene on chromosome 3q also showed genomewide significance (odds ratio of 4.1; p = 1.4 x 10(-8)). </p>
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</span>
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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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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STEVENS-JOHNSON SYNDROME, SUSCEPTIBILITY TO, INCLUDED<br />
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TOXIC EPIDERMAL NECROLYSIS, SUSCEPTIBILITY TO, INCLUDED
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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HLA-B, HLA-B*5801
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<br />
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ClinVar: RCV000016044, RCV000016046, RCV000031851, RCV004576902
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>To identify genetic markers for allopurinol-induced severe cutaneous adverse reaction (SCAR; 608579), Hung et al. (2005) genotyped 51 patients with allopurinol-SCAR and 228 controls (135 allopurinol-tolerant patients and 93 healthy individuals) for 823 SNPs in genes related to drug metabolism and immune response. All participants were unrelated Han Chinese residing in Taiwan. The HLA-B*5801 allele was present in all 51 of the patients with allopurinol-SCAR, but in only 15% of allopurinol-tolerant controls and 20% of healthy controls (p = 4.7 x 10(-24) and p = 8.1 x 10(-18), respectively). Hung et al. (2005) concluded that the HLA-B*5801 allele is an important genetic risk factor for severe cutaneous adverse reactions to allopurinol in the Han Chinese population. </p>
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</span>
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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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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Coppin et al. (1985); Mickelson et al. (1976)
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</span>
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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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<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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<strong>HLA-A*31:01 and HLA-B*15:02 as genetic markers for carbamazepine hypersensitivity in children.</strong>
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Hill, A. V. S., Elvin, J., Willis, A. C., Aidoo, M., Allsopp, C. E. M., Gotch, F. M., Gao, X. M., Takiguchi, M., Greenwood, B. M., Townsend, A. R. M., McMichael, A. J., Whittle, H. C.
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Hughes, D. A., Vilar, F. J., Ward, C. C., Alfirevic, A., Park, B. K., Pirmohamed, M.
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<strong>Cost-effectiveness analysis of HLA B*5701 genotyping in preventing abacavir hypersensitivity.</strong>
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Hung, S.-I., Chung, W.-H., Jee, S.-H., Chen, W.-C., Chang, Y.-T., Lee, W.-R., Hu, S.-L., Wu, M.-T., Chen, G.-S., Wong, T.-W., Hsiao, P.-F., Chen, W.-H., Shih, H.-Y., Fang, W.-H., Wei, C.-Y., Lou, Y.-H., Huang, Y.-L., Lin, J.-J., Chen, Y.-T.
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<strong>Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions.</strong>
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<p class="mim-text-font">
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<span class="text-nowrap mim-text-font">
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Contributors:
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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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Paul J. Converse - updated : 3/19/2015<br>Paul J. Converse - updated : 11/10/2014<br>Marla J. F. O'Neill - updated : 7/1/2014<br>Ada Hamosh - updated : 6/7/2011<br>Ada Hamosh - updated : 1/19/2011<br>Cassandra L. Kniffin - updated : 8/5/2009<br>Cassandra L. Kniffin - updated : 6/22/2009<br>Ada Hamosh - updated : 4/24/2008<br>Victor A. McKusick - updated : 3/10/2008<br>Paul J. Converse - updated : 12/6/2007<br>Paul J. Converse - updated : 12/6/2007<br>Cassandra L. Kniffin - updated : 11/13/2007<br>Cassandra L. Kniffin - updated : 10/30/2007<br>Paul J. Converse - updated : 3/31/2006<br>Jane Kelly - updated : 11/21/2005<br>Ada Hamosh - updated : 7/20/2005<br>Marla J. F. O'Neill - updated : 4/29/2005<br>Ada Hamosh - updated : 3/3/2005<br>Ada Hamosh - updated : 1/19/2005<br>Victor A. McKusick - updated : 10/4/2004<br>Victor A. McKusick - updated : 4/28/2004<br>Ada Hamosh - updated : 4/7/2004<br>Anne M. Stumpf - updated : 4/23/2003<br>Victor A. McKusick - updated : 2/14/2002<br>Victor A. McKusick - updated : 6/25/2001<br>Ada Hamosh - updated : 3/24/1999
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Victor A. McKusick : 6/4/1986
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Edit History:
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mgross : 04/03/2024<br>mgross : 04/03/2024<br>carol : 08/09/2023<br>carol : 08/08/2023<br>carol : 08/20/2019<br>alopez : 04/25/2017<br>carol : 07/20/2015<br>mgross : 4/2/2015<br>mcolton : 3/19/2015<br>mgross : 11/12/2014<br>mcolton : 11/10/2014<br>carol : 7/1/2014<br>mcolton : 7/1/2014<br>terry : 12/20/2012<br>alopez : 6/13/2011<br>terry : 6/7/2011<br>carol : 5/23/2011<br>alopez : 1/19/2011<br>terry : 1/19/2011<br>carol : 7/27/2010<br>wwang : 4/13/2010<br>mgross : 3/29/2010<br>mgross : 3/25/2010<br>wwang : 8/18/2009<br>ckniffin : 8/5/2009<br>wwang : 6/26/2009<br>ckniffin : 6/22/2009<br>alopez : 5/8/2008<br>terry : 4/24/2008<br>terry : 3/10/2008<br>alopez : 12/6/2007<br>alopez : 12/6/2007<br>wwang : 11/20/2007<br>ckniffin : 11/13/2007<br>wwang : 11/12/2007<br>ckniffin : 10/30/2007<br>mgross : 7/5/2007<br>carol : 2/28/2007<br>alopez : 1/17/2007<br>mgross : 3/31/2006<br>alopez : 11/21/2005<br>alopez : 7/20/2005<br>terry : 7/20/2005<br>mgross : 6/16/2005<br>carol : 5/18/2005<br>wwang : 5/12/2005<br>wwang : 5/5/2005<br>terry : 4/29/2005<br>alopez : 3/4/2005<br>terry : 3/3/2005<br>tkritzer : 2/4/2005<br>wwang : 2/3/2005<br>wwang : 2/1/2005<br>wwang : 1/27/2005<br>terry : 1/19/2005<br>carol : 1/18/2005<br>tkritzer : 1/18/2005<br>terry : 10/4/2004<br>tkritzer : 5/5/2004<br>terry : 4/28/2004<br>alopez : 4/13/2004<br>terry : 4/7/2004<br>carol : 4/6/2004<br>alopez : 4/23/2003<br>cwells : 2/21/2002<br>cwells : 2/15/2002<br>terry : 2/14/2002<br>terry : 6/25/2001<br>carol : 2/24/2000<br>alopez : 12/3/1999<br>alopez : 3/24/1999<br>alopez : 5/29/1998<br>psherman : 5/4/1998<br>jason : 7/12/1994<br>carol : 1/7/1993<br>carol : 1/6/1993<br>carol : 6/26/1992<br>carol : 6/23/1992<br>supermim : 3/16/1992
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