一项针对面部形态的全基因组关联研究在汉族人群中确定了新的遗传位点。
A genome-wide association study of facial morphology identifies novel genetic loci in Han Chinese.
机构信息
Chinese Academy of Sciences Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, University of Chinese Academy of Sciences, CAS, Shanghai 200031, China.
Chinese Academy of Sciences Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, University of Chinese Academy of Sciences, CAS, Shanghai 200031, China; DeepBlue Technology (Shanghai) Co., Ltd, Shanghai 200336, China.
出版信息
J Genet Genomics. 2021 Mar 20;48(3):198-207. doi: 10.1016/j.jgg.2020.10.004. Epub 2020 Nov 9.
The human face is a heritable surface with many complex sensory organs. In recent years, many genetic loci associated with facial features have been reported in different populations, yet there is a lack of studies on the Han Chinese population. Here, we report a genome-wide association study of 3D normal human faces of 2,659 Han Chinese with autosegment phenotypes of facial morphology. We identify single-nucleotide polymorphisms (SNPs) encompassing four genomic regions showing significant associations with different facial regions, including SNPs in DENND1B associated with the chin, SNPs among PISRT1 associated with eyes, SNPs between DCHS2 and SFRP2 associated with the nose, and SNPs in VPS13B associated with the nose. We replicate 24 SNPs from previously reported genetic loci in different populations, whose candidate genes are DCHS2, SUPT3H, HOXD1, SOX9, PAX3, and EDAR. These results provide a more comprehensive understanding of the genetic basis of variation in human facial morphology.
人脸是具有许多复杂感觉器官的可遗传表面。近年来，不同人群中已有许多与面部特征相关的遗传位点被报道，但汉族人群的研究还很缺乏。在这里，我们报告了一项针对 2659 名汉族人 3D 正常人脸的全基因组关联研究，这些人脸具有面部形态的自动分段表型。我们鉴定了包含与不同面部区域显著相关的四个基因组区域的单核苷酸多态性（SNP），包括与下巴相关的 DENND1B 中的 SNP、与眼睛相关的 PISRT1 中的 SNP、与鼻子相关的 DCHS2 和 SFRP2 之间的 SNP，以及与鼻子相关的 VPS13B 中的 SNP。我们在不同人群中复制了之前报道的遗传位点的 24 个 SNP，其候选基因有 DCHS2、SUPT3H、HOXD1、SOX9、PAX3 和 EDAR。这些结果为理解人类面部形态变异的遗传基础提供了更全面的认识。
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