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Genetic variants underlying differences in facial morphology in East Asian and European populations
論文作者 Zhang, MF; Wu, SJ; Du, SY; Qian, W; Chen, JY; Qiao, L; Yang, YJ; Tan, JZ; Yuan, ZY; Peng, QQ; Liu, Y; Navarro, N; Tang, K; Ruiz-Linares, A; Wang, JC; Claes, P; Jin, L; Li, JR; Wang, SJ
期刊/會(huì)議名稱(chēng) NATURE GENETICS
論文年度 2022
論文類(lèi)別 Article
摘要 A genome-wide study based on three-dimensional facial images identifies new loci associated with facial morphology in East Asian populations. Comparison with data from European populations identifies variants related to facial shape differences between these populations. 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.
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