中国科学院营养与健康研究院汪思佳等研究人员合作揭示东亚和欧洲人群面部形态差异背后的遗传变异。这一研究成果于2022年4月7日在线发表在国际学术期刊《自然—遗传学》上。

研究人员将数据驱动的表型和多变量全基因组扫描协议应用于东亚血统（EAS）个体的大量三维面部图像，在166个位点（62个新位点）上发现了244个与典型范围面部变异有关的变异。一个新提出的多基因形状分析表明，EAS中变异体对面部形状的影响可以推广到欧洲血统队列（EUR）上。在此基础上，研究人员进一步确定了13个与EUR和EAS人群中面部形状差异有关的变异体。演化分析表明，EUR和EAS之间的鼻形差异是由定向选择引起的，主要是由于欧洲人的局部适应。这些结果说明了不同人群面部差异的潜在遗传基础。

据悉，面部形态（人类外表的明显特征）是高度可遗传的。以前对面部形态的遗传基础的研究主要是在EUR中进行的。

附：英文原文

Title: Genetic variants underlying differences in facial morphology in East Asian and European populations

Author: 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, Andrs, Wang, Jiucun, Claes, Peter, Jin, Li, Li, Jiarui, Wang, Sijia

Issue&Volume: 2022-04-07

Abstract: 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.

DOI: 10.1038/s41588-022-01038-7

Source: https://www.nature.com/articles/s41588-022-01038-7