{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T18:32:42Z","timestamp":1790879562124,"version":"4.1.0"},"reference-count":74,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,8,12]],"date-time":"2022-08-12T00:00:00Z","timestamp":1660262400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81973408 81903735 82002569 82071146"],"award-info":[{"award-number":["81973408 81903735 82002569 82071146"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100013365","name":"West China Hospital, Sichuan University","doi-asserted-by":"publisher","award":["ZYYC20003 ZYJC18004"],"award-info":[{"award-number":["ZYYC20003 ZYJC18004"]}],"id":[{"id":"10.13039\/501100013365","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p><jats:bold>Background:<\/jats:bold> The aesthetic facial traits are closely related to life quality and strongly influenced by genetic factors, but the genetic predispositions in the Chinese population remain poorly understood.<\/jats:p><jats:p><jats:bold>Methods:<\/jats:bold> A genome-wide association studies (GWAS) and subsequent validations were performed in 26,806 Chinese on five facial traits: widow\u2019s peak, unibrow, double eyelid, earlobe attachment, and freckles. Functional annotation was performed based on the expression quantitative trait loci (eQTL) variants, genome-wide polygenic scores (GPSs) were developed to represent the combined polygenic effects, and single nucleotide polymorphism (SNP) heritability was presented to evaluate the contributions of the variants.<\/jats:p><jats:p><jats:bold>Results:<\/jats:bold> In total, 21 genetic associations were identified, of which ten were novel: <jats:italic>GMDS-AS1<\/jats:italic> (rs4959669, <jats:italic>p<\/jats:italic> = 1.29 \u00d7 10<jats:sup>\u221249<\/jats:sup>) and <jats:italic>SPRED2<\/jats:italic> (rs13423753, <jats:italic>p<\/jats:italic> = 2.99 \u00d7 10<jats:sup>\u221214<\/jats:sup>) for widow\u2019s peak, a previously unreported trait; <jats:italic>FARSB<\/jats:italic> (rs36015125, <jats:italic>p<\/jats:italic> = 1.96 \u00d7 10<jats:sup>\u221221<\/jats:sup>) for unibrow; <jats:italic>KIF26B<\/jats:italic> (rs7549180, <jats:italic>p<\/jats:italic> = 2.41 \u00d7 10<jats:sup>\u221215<\/jats:sup>), <jats:italic>CASC2<\/jats:italic> (rs79852633, <jats:italic>p<\/jats:italic> = 4.78 \u00d7 10<jats:sup>\u221211)<\/jats:sup>, <jats:italic>RPGRIP1L<\/jats:italic> (rs6499632, <jats:italic>p<\/jats:italic> = 9.15 \u00d7 10<jats:sup>\u221211<\/jats:sup>), and <jats:italic>PAX1<\/jats:italic> (rs147581439, <jats:italic>p<\/jats:italic> = 3.07 \u00d7 10<jats:sup>\u22128<\/jats:sup>) for double eyelid; <jats:italic>ZFHX3<\/jats:italic> (rs74030209, <jats:italic>p<\/jats:italic> = 9.77 \u00d7 10<jats:sup>\u221214<\/jats:sup>) and <jats:italic>LINC01107<\/jats:italic> (rs10211400, <jats:italic>p<\/jats:italic> = 6.25 \u00d7 10<jats:sup>\u221210<\/jats:sup>) for earlobe attachment; and <jats:italic>SPATA33<\/jats:italic> (rs35415928, <jats:italic>p<\/jats:italic> = 1.08 \u00d7 10<jats:sup>\u22128<\/jats:sup>) for freckles. Functionally, seven identified SNPs tag the missense variants and six may function as eQTLs. The combined polygenic effect of the associations was represented by GPSs and contributions of the variants were evaluated using SNP heritability.<\/jats:p><jats:p><jats:bold>Conclusion:<\/jats:bold> These identifications may facilitate a better understanding of the genetic basis of features in the Chinese population and hopefully inspire further genetic research on facial development.<\/jats:p>","DOI":"10.3389\/fgene.2022.967684","type":"journal-article","created":{"date-parts":[[2022,8,12]],"date-time":"2022-08-12T05:26:15Z","timestamp":1660281975000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":7,"title":["Novel genetic associations with five aesthetic facial traits: A genome-wide association study in the Chinese population"],"prefix":"10.3389","volume":"13","author":[{"given":"Peiqi","family":"Wang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinghan","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiang","family":"Miao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao","family":"Mi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minyuan","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shan","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiyi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Shu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heng","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ding","family":"Bai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,8,12]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"7500","DOI":"10.1038\/ncomms8500","article-title":"A genome-wide association study identifies multiple loci for variation in human ear morphology","volume":"6","author":"Adhikari","year":"2015","journal-title":"Nat. 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