Zhang Manfei, Wu Sijie, Du Siyuan, Qian Wei, Chen Jieyi, Qiao Lu, Yang Yajun, Tan Jingze, Yuan Ziyu, Peng Qianqian, Liu Yu, Navarro Nicolas, Tang Kun, Ruiz-Linares Andrés, Wang Jiucun, Claes Peter, Jin Li, Li Jiarui, Wang Sijia
State Key Laboratory of Genetic Engineering, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, Fudan University, Shanghai, China.
CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.
Nat Genet. 2022 Apr;54(4):403-411. doi: 10.1038/s41588-022-01038-7. Epub 2022 Apr 7.
Facial morphology-a conspicuous feature of human appearance-is highly heritable. Previous studies on the genetic basis of facial morphology were performed mainly in European-ancestry cohorts (EUR). Applying a data-driven phenotyping and multivariate genome-wide scanning protocol to a large collection of three-dimensional facial images of individuals with East Asian ancestry (EAS), we identified 244 variants in 166 loci (62 new) associated with typical-range facial variation. A newly proposed polygenic shape analysis indicates that the effects of the variants on facial shape in EAS can be generalized to EUR. Based on this, we further identified 13 variants related to differences between facial shape in EUR and EAS populations. Evolutionary analyses suggest that the difference in nose shape between EUR and EAS populations is caused by a directional selection, due mainly to a local adaptation in Europeans. Our results illustrate the underlying genetic basis for facial differences across populations.
面部形态——人类外貌的一个显著特征——具有高度遗传性。先前关于面部形态遗传基础的研究主要在欧洲血统人群（EUR）中进行。我们对大量东亚血统（EAS）个体的三维面部图像应用数据驱动的表型分析和多变量全基因组扫描方案，在166个基因座中鉴定出244个变异（62个为新发现），这些变异与典型范围的面部变异相关。一项新提出的多基因形状分析表明，这些变异对东亚人群面部形状的影响可推广到欧洲人群。基于此，我们进一步鉴定出13个与欧洲人群和东亚人群面部形状差异相关的变异。进化分析表明，欧洲人群和东亚人群鼻子形状的差异是由定向选择导致的，主要是由于欧洲人的局部适应性。我们的结果阐明了不同人群面部差异的潜在遗传基础。
