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<title>
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Entry
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- #612630 - HAIR MORPHOLOGY 1; HRM1
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- OMIM
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Advanced Search
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<p>
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<span class="h4">#612630</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimFloatingLinksMenu">
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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 id="mimExternalLinksFold" class="collapse in">
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<div style="display: table-cell;">Clinical Resources</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=(HAIR MORPHOLOGY) OR (EDAR)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8497" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/edar" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=612630[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://omia.org/results?search_type=advanced&omia_id=002687,002697" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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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="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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612630
|
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</span>
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</span>
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</div>
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
|
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<span class="mim-font">
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HAIR MORPHOLOGY 1; HRM1
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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">
|
|
HAIR THICKNESS, VARIATION IN
|
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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="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
|
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Phenotype
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</th>
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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<th>
|
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Gene/Locus
|
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</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
|
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</th>
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</tr>
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</thead>
|
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<tbody>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/geneMap/2/550?start=-3&limit=10&highlight=550">
|
|
2q13
|
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</a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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[Hair morphology 1, hair thickness]
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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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<a href="/entry/612630"> 612630 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
|
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</td>
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<a href="/entry/604095"> 604095 </a>
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<p>A number sign (#) is used with this entry because of evidence that thickness of human head hair is associated with variation in the EDAR gene (<a href="/entry/604095">604095</a>) on chromosome 2q13.</p>
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<p>Differences in head hair morphology among different human populations have long been recognized. <a href="#4" class="mim-tip-reference" title="Hrdy, D. <strong>Quantitative hair form variation in seven populations.</strong> Am. J. Phys. Anthrop. 39: 7-18, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4713565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4713565</a>] [<a href="https://doi.org/10.1002/ajpa.1330390103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4713565">Hrdy (1973)</a> reported quantitative variation in hair from among 7 populations worldwide, including individuals from northwest Europe, Africa, the Solomon Islands, and Japan. Assessments included differences in diameter, medullation, cuticular scales, kinking, and curvature (see <a href="/entry/139450">139450</a>). The greatest hair diameter was observed among the Japanese, and kinking and curvature was highest among Africans. <a href="#4" class="mim-tip-reference" title="Hrdy, D. <strong>Quantitative hair form variation in seven populations.</strong> Am. J. Phys. Anthrop. 39: 7-18, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4713565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4713565</a>] [<a href="https://doi.org/10.1002/ajpa.1330390103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4713565">Hrdy (1973)</a> concluded that a small number of genes with varying expression resulting from environmental forces determine differences in hair morphology among different populations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4713565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Franbourg, A., Hallegot, P., Baltenneck, F., Toutain, C., Leroy, F. <strong>Current research on ethnic hair.</strong> J. Am. Acad. Derm. 48: S115-S119, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12789163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12789163</a>] [<a href="https://doi.org/10.1067/mjd.2003.277" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12789163">Franbourg et al. (2003)</a> used several methods to examine the differences between head hair from persons of Caucasian, Asian, and African descent. X-ray analysis showed that all 3 hair types were similar in keratin protein structure down to coiled-coil molecules. Three-dimensional structure analysis showed that Asian hair had the greatest diameter and that African hair had the greatest sectional variability and variability of ellipticity along the fiber. Radial water swelling studies showed that African hair had the lowest increase in diameter when water was applied. Caucasian and Asian hair showed similar radial swelling changes to one other. A tensile study showed that African hair had the earliest breaking time and lowest stress requirement at breaking. The findings demonstrated that there are measurable differences in hair morphology among these 3 ethnic groups. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12789163" 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="#2" class="mim-tip-reference" title="Fujimoto, A., Kimura, R., Ohashi, J., Omi, K., Yuliwulandari, R., Batubara, L., Mustofa, M. S., Samakkarn, U., Settheetham-Ishida, W., Ishida, T., Morishita, Y., Furusawa, T., Nakazawa, M., Ohtsuka, R., Tokunaga, K. <strong>A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness.</strong> Hum. Molec. Genet. 17: 835-843, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18065779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18065779</a>] [<a href="https://doi.org/10.1093/hmg/ddm355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18065779">Fujimoto et al. (2008)</a> evaluated genetic differences in 170 genes related to hair morphogenesis in several populations, including European, African, Chinese, and Japanese. There were significant differences within the EDAR gene (<a href="/entry/604095">604095</a>), which were further evaluated. The C allele of SNP 1540T-C (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3827760;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs3827760</a>) in exon 12 of the EDAR gene (V370A; <a href="/entry/604095#0011">604095.0011</a>) was significantly associated with Chinese and Japanese samples, present at a frequency of 87.6%, compared to 0% in European and African samples. A further study of 121 unrelated Indonesian individuals from the Java Island and 65 unrelated individuals of the Thai-Mai in Thailand showed a significant association of the 1540T/C SNP with diameter, or cross-sectional area, of individual hairs (p = 5.5 x 10(-3) and p = 9.5 x 10(-4), for the populations, respectively). In a follow-up study, <a href="#3" class="mim-tip-reference" title="Fujimoto, A., Ohashi, J., Nishida, N., Miyagawa, T., Morishita, Y., Tsunoda, T., Kimura, R., Tokunaga, K. <strong>A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia.</strong> Hum. Genet. 124: 179-185, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18704500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18704500</a>] [<a href="https://doi.org/10.1007/s00439-008-0537-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18704500">Fujimoto et al. (2008)</a> found a significant association between 1540C and increased cross-sectional area of individual hairs in a cohort of 189 Japanese individuals (p = 2.7 x 10(-6)). A stronger association was noted (p = 3.8 x 10(-10)) when the findings were combined with population results of the Thai-Mai and Indonesian cohorts from the previous study. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18704500+18065779" 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>By studying the geographic distribution of the 1540T/C SNP in the EDAR gene and using haplotype analysis, <a href="#2" class="mim-tip-reference" title="Fujimoto, A., Kimura, R., Ohashi, J., Omi, K., Yuliwulandari, R., Batubara, L., Mustofa, M. S., Samakkarn, U., Settheetham-Ishida, W., Ishida, T., Morishita, Y., Furusawa, T., Nakazawa, M., Ohtsuka, R., Tokunaga, K. <strong>A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness.</strong> Hum. Molec. Genet. 17: 835-843, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18065779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18065779</a>] [<a href="https://doi.org/10.1093/hmg/ddm355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18065779">Fujimoto et al. (2008)</a> concluded that the 1540C allele arose after the divergence of Asians from Europeans, and that its frequency has rapidly increased in East Asian populations due to positive selection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18065779" 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="#5" class="mim-tip-reference" title="Mou, C., Thomason, H. A., Willan, P. M., Clowes, C., Harris, W. E., Drew, C. F., Dixon, J., Dixon, M. J., Headon, D. J. <strong>Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form.</strong> Hum. Mutat. 29: 1405-1411, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18561327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18561327</a>] [<a href="https://doi.org/10.1002/humu.20795" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18561327">Mou et al. (2008)</a> found that mice with overexpression of the Edar gene displayed a coarser coat hair phenotype compared to wildtype mice. The diameter of each hair type was increased by 10 to 25% upon elevation of Edar signaling, corresponding to an increase of cross-sectional area of 21 to 56%. In addition, the hair of transgenic mice showed increased straightness with less kinking, and a more circular cross-section appearance compared to wildtype mice. Primary hair follicles of the transgenic mice showed an enlarged bulb region with Edar expression within the bulb, and transgenic mouse embryos showed larger hair follicle placodes, which represent the organ primordia. <a href="#5" class="mim-tip-reference" title="Mou, C., Thomason, H. A., Willan, P. M., Clowes, C., Harris, W. E., Drew, C. F., Dixon, J., Dixon, M. J., Headon, D. J. <strong>Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form.</strong> Hum. Mutat. 29: 1405-1411, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18561327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18561327</a>] [<a href="https://doi.org/10.1002/humu.20795" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18561327">Mou et al. (2008)</a> commented that the phenotype was similar to that observed in East Asian human hair, which is thicker and more circular on cross-section than that observed in other populations, and is associated with a SNP in the EDAR gene (<a href="/entry/604095#0011">604095.0011</a>) that causes increased downstream NFKB activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18561327" 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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Franbourg, A., Hallegot, P., Baltenneck, F., Toutain, C., Leroy, F.
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<strong>Current research on ethnic hair.</strong>
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J. Am. Acad. Derm. 48: S115-S119, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12789163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12789163</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12789163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Fujimoto, A., Kimura, R., Ohashi, J., Omi, K., Yuliwulandari, R., Batubara, L., Mustofa, M. S., Samakkarn, U., Settheetham-Ishida, W., Ishida, T., Morishita, Y., Furusawa, T., Nakazawa, M., Ohtsuka, R., Tokunaga, K.
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<strong>A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness.</strong>
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Hum. Molec. Genet. 17: 835-843, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18065779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18065779</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18065779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Fujimoto, A., Ohashi, J., Nishida, N., Miyagawa, T., Morishita, Y., Tsunoda, T., Kimura, R., Tokunaga, K.
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<strong>A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia.</strong>
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Hum. Genet. 124: 179-185, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18704500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18704500</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18704500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4713565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4713565</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4713565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajpa.1330390103" target="_blank">Full Text</a>]
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Mou, C., Thomason, H. A., Willan, P. M., Clowes, C., Harris, W. E., Drew, C. F., Dixon, J., Dixon, M. J., Headon, D. J.
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<strong>Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form.</strong>
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Hum. Mutat. 29: 1405-1411, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18561327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18561327</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18561327" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.20795" target="_blank">Full Text</a>]
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carol : 11/27/2018
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carol : 02/20/2009<br>ckniffin : 2/19/2009
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HAIR MORPHOLOGY 1; HRM1
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HAIR THICKNESS, VARIATION IN
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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2q13
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[Hair morphology 1, hair thickness]
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612630
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3
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EDAR
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604095
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<p>A number sign (#) is used with this entry because of evidence that thickness of human head hair is associated with variation in the EDAR gene (604095) on chromosome 2q13.</p>
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<strong>Clinical Features</strong>
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<p>Differences in head hair morphology among different human populations have long been recognized. Hrdy (1973) reported quantitative variation in hair from among 7 populations worldwide, including individuals from northwest Europe, Africa, the Solomon Islands, and Japan. Assessments included differences in diameter, medullation, cuticular scales, kinking, and curvature (see 139450). The greatest hair diameter was observed among the Japanese, and kinking and curvature was highest among Africans. Hrdy (1973) concluded that a small number of genes with varying expression resulting from environmental forces determine differences in hair morphology among different populations. </p><p>Franbourg et al. (2003) used several methods to examine the differences between head hair from persons of Caucasian, Asian, and African descent. X-ray analysis showed that all 3 hair types were similar in keratin protein structure down to coiled-coil molecules. Three-dimensional structure analysis showed that Asian hair had the greatest diameter and that African hair had the greatest sectional variability and variability of ellipticity along the fiber. Radial water swelling studies showed that African hair had the lowest increase in diameter when water was applied. Caucasian and Asian hair showed similar radial swelling changes to one other. A tensile study showed that African hair had the earliest breaking time and lowest stress requirement at breaking. The findings demonstrated that there are measurable differences in hair morphology among these 3 ethnic groups. </p>
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<strong>Molecular Genetics</strong>
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<p>Fujimoto et al. (2008) evaluated genetic differences in 170 genes related to hair morphogenesis in several populations, including European, African, Chinese, and Japanese. There were significant differences within the EDAR gene (604095), which were further evaluated. The C allele of SNP 1540T-C (rs3827760) in exon 12 of the EDAR gene (V370A; 604095.0011) was significantly associated with Chinese and Japanese samples, present at a frequency of 87.6%, compared to 0% in European and African samples. A further study of 121 unrelated Indonesian individuals from the Java Island and 65 unrelated individuals of the Thai-Mai in Thailand showed a significant association of the 1540T/C SNP with diameter, or cross-sectional area, of individual hairs (p = 5.5 x 10(-3) and p = 9.5 x 10(-4), for the populations, respectively). In a follow-up study, Fujimoto et al. (2008) found a significant association between 1540C and increased cross-sectional area of individual hairs in a cohort of 189 Japanese individuals (p = 2.7 x 10(-6)). A stronger association was noted (p = 3.8 x 10(-10)) when the findings were combined with population results of the Thai-Mai and Indonesian cohorts from the previous study. </p>
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<strong>Population Genetics</strong>
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<p>By studying the geographic distribution of the 1540T/C SNP in the EDAR gene and using haplotype analysis, Fujimoto et al. (2008) concluded that the 1540C allele arose after the divergence of Asians from Europeans, and that its frequency has rapidly increased in East Asian populations due to positive selection. </p>
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<p>Mou et al. (2008) found that mice with overexpression of the Edar gene displayed a coarser coat hair phenotype compared to wildtype mice. The diameter of each hair type was increased by 10 to 25% upon elevation of Edar signaling, corresponding to an increase of cross-sectional area of 21 to 56%. In addition, the hair of transgenic mice showed increased straightness with less kinking, and a more circular cross-section appearance compared to wildtype mice. Primary hair follicles of the transgenic mice showed an enlarged bulb region with Edar expression within the bulb, and transgenic mouse embryos showed larger hair follicle placodes, which represent the organ primordia. Mou et al. (2008) commented that the phenotype was similar to that observed in East Asian human hair, which is thicker and more circular on cross-section than that observed in other populations, and is associated with a SNP in the EDAR gene (604095.0011) that causes increased downstream NFKB activity. </p>
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<strong>REFERENCES</strong>
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Franbourg, A., Hallegot, P., Baltenneck, F., Toutain, C., Leroy, F.
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<strong>Current research on ethnic hair.</strong>
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J. Am. Acad. Derm. 48: S115-S119, 2003.
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[PubMed: 12789163]
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[Full Text: https://doi.org/10.1067/mjd.2003.277]
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Fujimoto, A., Kimura, R., Ohashi, J., Omi, K., Yuliwulandari, R., Batubara, L., Mustofa, M. S., Samakkarn, U., Settheetham-Ishida, W., Ishida, T., Morishita, Y., Furusawa, T., Nakazawa, M., Ohtsuka, R., Tokunaga, K.
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<strong>A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness.</strong>
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Hum. Molec. Genet. 17: 835-843, 2008.
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[PubMed: 18065779]
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[Full Text: https://doi.org/10.1093/hmg/ddm355]
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Fujimoto, A., Ohashi, J., Nishida, N., Miyagawa, T., Morishita, Y., Tsunoda, T., Kimura, R., Tokunaga, K.
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<strong>A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia.</strong>
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Hum. Genet. 124: 179-185, 2008.
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[PubMed: 18704500]
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[Full Text: https://doi.org/10.1007/s00439-008-0537-1]
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</p>
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<p class="mim-text-font">
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Hrdy, D.
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<strong>Quantitative hair form variation in seven populations.</strong>
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Am. J. Phys. Anthrop. 39: 7-18, 1973.
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[PubMed: 4713565]
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[Full Text: https://doi.org/10.1002/ajpa.1330390103]
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Mou, C., Thomason, H. A., Willan, P. M., Clowes, C., Harris, W. E., Drew, C. F., Dixon, J., Dixon, M. J., Headon, D. J.
|
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<strong>Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form.</strong>
|
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Hum. Mutat. 29: 1405-1411, 2008.
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[PubMed: 18561327]
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[Full Text: https://doi.org/10.1002/humu.20795]
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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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Cassandra L. Kniffin : 2/17/2009
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Edit History:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 11/27/2018<br>carol : 02/20/2009<br>ckniffin : 2/19/2009
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