Wang Peiqi, Sun Xinghan, Miao Qiang, Mi Hao, Cao Minyuan, Zhao Shan, Wang Yiyi, Shu Yang, Li Wei, Xu Heng, Bai Ding, Zhang Yan
State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China.
State Key Laboratory of Biotherapy and Cancer Center, West China Hospital, Sichuan University, Chengdu, China.
Front Genet. 2022 Aug 12;13:967684. doi: 10.3389/fgene.2022.967684. eCollection 2022.
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. A genome-wide association studies (GWAS) and subsequent validations were performed in 26,806 Chinese on five facial traits: widow's 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. In total, 21 genetic associations were identified, of which ten were novel: (rs4959669, = 1.29 × 10) and (rs13423753, = 2.99 × 10) for widow's peak, a previously unreported trait; (rs36015125, = 1.96 × 10) for unibrow; (rs7549180, = 2.41 × 10), (rs79852633, = 4.78 × 10, (rs6499632, = 9.15 × 10), and (rs147581439, = 3.07 × 10) for double eyelid; (rs74030209, = 9.77 × 10) and (rs10211400, = 6.25 × 10) for earlobe attachment; and (rs35415928, = 1.08 × 10) 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. 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.
面部美学特征与生活质量密切相关，且受遗传因素的强烈影响，但中国人群中的遗传易感性仍知之甚少。我们对26,806名中国人就五个面部特征进行了全基因组关联研究（GWAS）及后续验证，这五个面部特征分别为：美人尖、一字眉、双眼皮、耳垂形状和雀斑。基于表达数量性状位点（eQTL）变异进行了功能注释，开发了全基因组多基因评分（GPS）以代表综合多基因效应，并给出了单核苷酸多态性（SNP）遗传力以评估变异的贡献。总共鉴定出21个遗传关联，其中10个是新发现的：与美人尖相关的（rs4959669，P = 1.29 × 10⁻⁸）和（rs13423753，P = 2.99 × 10⁻⁸），美人尖是一个此前未报道过的性状；与一字眉相关的（rs36015125，P = 1.96 × 10⁻⁸）；与双眼皮相关的（rs7549180，P = 2.41 × 10⁻⁸）、（rs79852633，P = 4.78 × 10⁻⁸）、（rs6499632，P = 9.15 × 10⁻⁸）和（rs147581439，P = 3.07 × 10⁻⁸）；与耳垂形状相关的（rs74030209，P = 9.77 × 10⁻⁸）和（rs10211400，P = 6.25 × 10⁻⁸）；与雀斑相关的（rs35415928，P = 1.08 × 10⁻⁸）。在功能方面，七个已鉴定的SNP标记了错义变异，六个可能作为eQTL发挥作用。关联的综合多基因效应由GPS表示，并使用SNP遗传力评估变异的贡献。这些发现可能有助于更好地理解中国人群面部特征的遗传基础，并有望激发对面部发育的进一步遗传学研究。
