A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation

<!DOCTYPE html>     <html class="no-js" lang="en">  <head> <title>A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation - ADS</title>  <link rel="apple-touch-icon" sizes="180x180" href="/styles/favicon/apple-touch-icon.png" /> <link rel="icon" type="image/png" sizes="32x32" href="/styles/favicon/favicon-32x32.png" /> <link rel="icon" type="image/png" sizes="16x16" href="/styles/favicon/favicon-16x16.png" /> <link rel="manifest" href="/styles/favicon/site.webmanifest" /> <link rel="mask-icon" href="/styles/favicon/safari-pinned-tab.svg" color="#5bbad5" /> <meta name="apple-mobile-web-app-title" content="ADS" /> <meta name="application-name" content="ADS" /> <meta name="msapplication-TileColor" content="#ffc40d" /> <meta name="theme-color" content="#ffffff" />   <script>(function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start': new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0], j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src= 'https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f); })(window,document,'script','dataLayer','GTM-NT2453N');</script>  <link rel="stylesheet" href="/styles/css/styles.css"> <meta name="robots" content="noarchive"> <link rel="canonical" href="http://ui.adsabs.harvard.edu/abs/2016NatCo...711616A/abstract"/> <meta name="description" content="We report a genome-wide association scan for facial features in ~6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values&lt;5 脳 10<SUP>-8</SUP>) at single-nucleotide polymorphisms (SNPs) in four genomic regions for three nose-related traits: columella inclination (4q31), nose bridge breadth (6p21) and nose wing breadth (7p13 and 20p11). In a subsample of ~3,000 individuals we obtained quantitative traits related to 9 of the ordinal phenotypes and, also, a measure of nasion position. Quantitative analyses confirmed the ordinal-based associations, identified SNPs in 2q12 associated to chin protrusion, and replicated the reported association of nasion position with SNPs in PAX3. Strongest association in 2q12, 4q31, 6p21 and 7p13 was observed for SNPs in the EDAR, DCHS2, RUNX2 and GLI3 genes, respectively. Associated SNPs in 20p11 extend to PAX1. Consistent with the effect of EDAR on chin protrusion, we documented alterations of mandible length in mice with modified Edar funtion.">  <meta property="og:type" content="article"> <meta property="og:title" content="A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation"> <meta property="og:site_name" content="ADS"> <meta property="og:description" content="We report a genome-wide association scan for facial features in ~6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values&lt;5 脳 10<SUP>-8</SUP>) at single-nucleotide polymorphisms (SNPs) in four genomic regions for three nose-related traits: columella inclination (4q31), nose bridge breadth (6p21) and nose wing breadth (7p13 and 20p11). In a subsample of ~3,000 individuals we obtained quantitative traits related to 9 of the ordinal phenotypes and, also, a measure of nasion position. Quantitative analyses confirmed the ordinal-based associations, identified SNPs in 2q12 associated to chin protrusion, and replicated the reported association of nasion position with SNPs in PAX3. Strongest association in 2q12, 4q31, 6p21 and 7p13 was observed for SNPs in the EDAR, DCHS2, RUNX2 and GLI3 genes, respectively. Associated SNPs in 20p11 extend to PAX1. Consistent with the effect of EDAR on chin protrusion, we documented alterations of mandible length in mice with modified Edar funtion."> <meta property="og:url" content="https://ui.adsabs.harvard.edu/abs/2016NatCo...711616A/abstract"> <meta property="og:image" content="https://ui.adsabs.harvard.edu/styles/img/transparent_logo.svg"> <meta property="article:published_time" content="05/2016"> <meta property="article:author" content="Adhikari, Kaustubh"> <meta property="article:author" content="Fuentes-Guajardo, Macarena"> <meta property="article:author" content="Quinto-S谩nchez, Mirsha"> <meta property="article:author" content="Mendoza-Revilla, Javier"> <meta property="article:author" content="Camilo Chac贸n-Duque, Juan"> <meta property="article:author" content="Acu帽a-Alonzo, Victor"> <meta property="article:author" content="Jaramillo, Claudia"> <meta property="article:author" content="Arias, William"> <meta property="article:author" content="Lozano, Rodrigo Barquera"> <meta 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Michael"> <meta property="article:author" content="Rosique, Javier"> <meta property="article:author" content="Bedoya, Gabriel"> <meta property="article:author" content="Rothhammer, Francisco"> <meta property="article:author" content="Headon, Denis"> <meta property="article:author" content="Gonz谩lez-Jos茅, Rolando"> <meta property="article:author" content="Balding, David"> <meta property="article:author" content="Ruiz-Linares, Andr茅s">  <meta name="citation_journal_title" content="Nature Communications"> <meta name="citation_authors" content="Adhikari, Kaustubh;Fuentes-Guajardo, Macarena;Quinto-S谩nchez, Mirsha;Mendoza-Revilla, Javier;Camilo Chac贸n-Duque, Juan;Acu帽a-Alonzo, Victor;Jaramillo, Claudia;Arias, William;Lozano, Rodrigo Barquera;P茅rez, Gast贸n Mac铆n;G贸mez-Vald茅s, Jorge;Villamil-Ram铆rez, Hugo;Hunemeier, T谩bita;Ramallo, Virginia;Silva de Cerqueira, Caio C.;Hurtado, Malena;Villegas, Valeria;Granja, Vanessa;Gallo, Carla;Poletti, Giovanni;Schuler-Faccini, Lavinia;Salzano, Francisco M.;Bortolini, Maria-C谩tira;Canizales-Quinteros, Samuel;Cheeseman, Michael;Rosique, Javier;Bedoya, Gabriel;Rothhammer, Francisco;Headon, Denis;Gonz谩lez-Jos茅, Rolando;Balding, David;Ruiz-Linares, Andr茅s"> <meta name="citation_title" content="A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation"> <meta name="citation_date" content="05/2016"> <meta name="citation_volume" content="7"> <meta name="citation_firstpage" content="11616"> <meta name="citation_doi" content="10.1038/ncomms11616"> <meta name="citation_issn" content="2041-1723"> <meta name="citation_language" content="en"> <meta name="citation_abstract_html_url" content="https://ui.adsabs.harvard.edu/abs/2016NatCo...711616A/abstract"> <meta name="citation_publication_date" content="05/2016"> <link title="schema(PRISM)" rel="schema.prism" href="http://prismstandard.org/namespaces/1.2/basic/" /> <meta name="prism.publicationDate" content="05/2016" /> <meta name="prism.publicationName" 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We evaluated 14 traits on an ordinal scale and found significant association (P values&lt;5 脳 10<SUP>-8</SUP>) at single-nucleotide polymorphisms (SNPs) in four genomic regions for three nose-related traits: columella inclination (4q31), nose bridge breadth (6p21) and nose wing breadth (7p13 and 20p11). In a subsample of ~3,000 individuals we obtained quantitative traits related to 9 of the ordinal phenotypes and, also, a measure of nasion position. Quantitative analyses confirmed the ordinal-based associations, identified SNPs in 2q12 associated to chin protrusion, and replicated the reported association of nasion position with SNPs in PAX3. Strongest association in 2q12, 4q31, 6p21 and 7p13 was observed for SNPs in the EDAR, DCHS2, RUNX2 and GLI3 genes, respectively. Associated SNPs in 20p11 extend to PAX1. Consistent with the effect of EDAR on chin protrusion, we documented alterations of mandible length in mice with modified Edar funtion."/> <meta name="twitter:title" content="A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation"/> <meta name="twitter:site" content="@adsabs"/> <meta name="twitter:domain" content="ADS"/> <meta name="twitter:image:src" content="https://ui.adsabs.harvard.edu/styles/img/transparent_logo.svg"/> <meta name="twitter:creator" content="@adsabs"/> <meta charset="utf-8"> <meta name="viewport" content="width=device-width, initial-scale=1, shrink-to-fit=no"> <base href="/"> <style> .btn-full-ads { color: #fff !important; background-color: #1a1a1a !important; border-color: #1a1a1a !important; margin-top: 9px !important; padding-bottom: 10px !important; padding-top: 10px !important; } .btn-full-ads:hover, .btn-full-ads:focus, .btn-full-ads:active, .btn-full-ads.active, .open>.dropdown-toggle.btn-full-ads { color: #000 !important; 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<li class="author"><a href="/search/?q=author%3A%22Fuentes-Guajardo%2C+Macarena%22">Fuentes-Guajardo, Macarena</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Quinto-S%C3%A1nchez%2C+Mirsha%22">Quinto-S谩nchez, Mirsha</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Mendoza-Revilla%2C+Javier%22">Mendoza-Revilla, Javier</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Camilo+Chac%C3%B3n-Duque%2C+Juan%22">Camilo Chac贸n-Duque, Juan</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Acu%C3%B1a-Alonzo%2C+Victor%22">Acu帽a-Alonzo, Victor</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Jaramillo%2C+Claudia%22">Jaramillo, Claudia</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Arias%2C+William%22">Arias, William</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Lozano%2C+Rodrigo+Barquera%22">Lozano, Rodrigo Barquera</a> </li>; <li class="author"><a href="/search/?q=author%3A%22P%C3%A9rez%2C+Gast%C3%B3n+Mac%C3%ADn%22">P茅rez, Gast贸n Mac铆n</a> </li>; <li class="author"><a href="/search/?q=author%3A%22G%C3%B3mez-Vald%C3%A9s%2C+Jorge%22">G贸mez-Vald茅s, Jorge</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Villamil-Ram%C3%ADrez%2C+Hugo%22">Villamil-Ram铆rez, Hugo</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Hunemeier%2C+T%C3%A1bita%22">Hunemeier, T谩bita</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Ramallo%2C+Virginia%22">Ramallo, Virginia</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Silva+de+Cerqueira%2C+Caio+C.%22">Silva de Cerqueira, Caio C.</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Hurtado%2C+Malena%22">Hurtado, Malena</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Villegas%2C+Valeria%22">Villegas, Valeria</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Granja%2C+Vanessa%22">Granja, Vanessa</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Gallo%2C+Carla%22">Gallo, Carla</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Poletti%2C+Giovanni%22">Poletti, Giovanni</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Schuler-Faccini%2C+Lavinia%22">Schuler-Faccini, Lavinia</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Salzano%2C+Francisco+M.%22">Salzano, Francisco M.</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Bortolini%2C+Maria-C%C3%A1tira%22">Bortolini, Maria-C谩tira</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Canizales-Quinteros%2C+Samuel%22">Canizales-Quinteros, Samuel</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Cheeseman%2C+Michael%22">Cheeseman, Michael</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Rosique%2C+Javier%22">Rosique, Javier</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Bedoya%2C+Gabriel%22">Bedoya, Gabriel</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Rothhammer%2C+Francisco%22">Rothhammer, Francisco</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Headon%2C+Denis%22">Headon, Denis</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Gonz%C3%A1lez-Jos%C3%A9%2C+Rolando%22">Gonz谩lez-Jos茅, Rolando</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Balding%2C+David%22">Balding, David</a> </li>; <li class="author"><a href="/search/?q=author%3A%22Ruiz-Linares%2C+Andr%C3%A9s%22">Ruiz-Linares, Andr茅s</a> </li> </ul> </div> <div class="s-abstract-text"> <h4 class="sr-only">Abstract</h4> <p> We report a genome-wide association scan for facial features in ~6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values<5 脳 10<SUP>-8</SUP>) at single-nucleotide polymorphisms (SNPs) in four genomic regions for three nose-related traits: columella inclination (4q31), nose bridge breadth (6p21) and nose wing breadth (7p13 and 20p11). In a subsample of ~3,000 individuals we obtained quantitative traits related to 9 of the ordinal phenotypes and, also, a measure of nasion position. Quantitative analyses confirmed the ordinal-based associations, identified SNPs in 2q12 associated to chin protrusion, and replicated the reported association of nasion position with SNPs in PAX3. Strongest association in 2q12, 4q31, 6p21 and 7p13 was observed for SNPs in the EDAR, DCHS2, RUNX2 and GLI3 genes, respectively. Associated SNPs in 20p11 extend to PAX1. Consistent with the effect of EDAR on chin protrusion, we documented alterations of mandible length in mice with modified Edar funtion. </p> </div> <br> <dl class="s-abstract-dl-horizontal"> <dt>Publication:</dt> <dd> <div id="article-publication">Nature Communications</div> </dd> <dt>Pub Date:</dt> <dd>May 2016</dd> <dt>DOI:</dt> <dd> <p class="doi-p"> <a href="/link_gateway/2016NatCo...711616A/doi:10.1038/ncomms11616" target="_blank" rel="noreferrer noopener">10.1038/ncomms11616</a> <i class="fa fa-external-link"></i> </p> </dd> <dt>Bibcode:</dt> <dd> <a href="/abs/2016NatCo...711616A/abstract"> 2016NatCo...711616A </a> <i class="icon-help" title="The bibcode is assigned by the ADS as a unique identifier for the paper."></i> </dd> </dl> </article> </div> <div data-widget="ShowCitations"></div> <div data-widget="ShowReferences"></div> <div data-widget="ShowCoreads"></div> <div data-widget="ShowSimilar"></div> <div data-widget="ShowTableofcontents"></div> <div data-widget="ShowGraphics"></div> <div data-widget="ShowExportcitation" data-origin="abstract"></div> <div data-widget="ShowMetrics" data-allow-redirect="false"></div> <div data-widget="MetaTagsWidget"></div> </div> </div> </div> <div class="s-right-col-container col-xs-12 col-sm-12 col-md-3 col-lg-2 s-right-column" id="right-col-container" > <div data-widget="ShowResources"> <div data-reactroot="" class="s-right-col-widget-container" style="padding: 10px" > <div> <div class="resources__container"> <div class="resources__full__list"> <div class="resources__header__row"> <i class="fa fa-file-text-o" aria-hidden="true"> </i> <div class="resources__header__title">full text sources</div> </div> <div class="resources__content"> <div class="resources__content__title"> Publisher </div> <div class="resources__content__links"> <span> <div class="resources__content__link__separator">|</div> </span> <span> <a href="/link_gateway/2016NatCo...711616A/PUB_HTML" rel="noopener" class="resources__content__link unlock" > <i class="fa fa-file-text" aria-hidden="true"> </i> </a> </span> </div> </div> </div> </div> <div data-widget="ShowAssociated"> </div> </div> </div> </div> <div data-widget="ShowGraphicsSidebar"> </div> </div> </div> </div> </div> </div> </div> <div id="footer-container"> <div data-widget="FooterWidget"> <div class="footer s-footer"> <footer> <div class="__footer_wrapper"> <div class="__footer_brand"> 漏 The SAO Astrophysics Data System <div class="__footer_brand_extra"> <p> <i class="fa fa-envelope"></i> adshelp[at]cfa.harvard.edu </p> <p> The ADS is operated by the Smithsonian Astrophysical Observatory under NASA Cooperative Agreement <em>80NSSC21M0056</em> </p> </div> <div class="__footer_brand_logos"> <div class="logo1"> <a href="http://www.si.edu" target="_blank" rel="noreferrer noopener"> <img id="smithsonian-logo" src="/styles/img/smithsonian-logo.svg" alt="Smithsonian logo" /> </a> </div> <div class="logo2"> <a href="https://www.cfa.harvard.edu/" target="_blank" rel="noreferrer noopener"> <img src="/styles/img/cfa.png" alt="Harvard Center for Astrophysics logo" id="cfa-logo" /> </a> </div> <div class="logo3"> <a href="http://www.nasa.gov" target="_blank" rel="noreferrer noopener"> <img src="/styles/img/nasa-partner.svg" alt="NASA logo" id="nasa-logo" /> </a> </div> </div> <div class="__footer_brand_disclaimer"> *The material contained in this document is based upon work supported by a National Aeronautics and Space Administration (NASA) grant or cooperative agreement. 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A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation - ADS