Dan Li
Lu Qiao
Yu Liu
Qianqian Peng
Sijie Wu
Manfei Zhang
Yajun Yang
Jingze Tan
Shuhua Xu
Li Jin
Sijia Wang
Kun Tang
Stefan Grünewald
aChinese 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
bDeepBlue Technology (Shanghai) Co., Ltd, Shanghai 200336, China
cState Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai 200433, China
dFudan-Taizhou Institute of Health Sciences, Taizhou 225300, China
eCollaborative Innovation Center of Genetics and Development, Shanghai 200438, China
fCenter for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming, Yunnan 650223, China
gSchool of Life Science and Technology, ShanghaiTech University, Shanghai 201210, China
More InformationCorresponding author: E-mail address: wangsijia@picb.ac.cn (Sijia Wang);E-mail address: tangkun@geeppies.com (Kun Tang);E-mail address: stefan@picb.ac.cn (Stefan Grünewald)
Received Date: 2020-10-14
Accepted Date:2020-10-15
Available Online: 2020-11-09 Publish Date:2021-03-20
Abstract
Abstract
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 inDENND1B 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.Keywords: Genome-wide association study,
Facial morphology,
Automatic phenotyping,
Visualization
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