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，在不同人群中报道了许多与面部特征相关的基因位点，但缺乏对汉族人群的研究。在这里，我们报告了 2,659 名汉族人的 3D 正常人脸与面部形态的自动分段表型的全基因组关联研究。我们鉴定了包含四个基因组区域的单核苷酸多态性 (SNP)，这些区域显示出与不同面部区域的显着关联，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VPS13B与鼻子有关。我们从先前报道的不同人群中的基因位点复制了 24 个 SNP，其候选基因是DCHS2、SUPT3H、HOXD1、SOX9、PAX3和EDAR。这些结果为人类面部形态变异的遗传基础提供了更全面的理解。