A genome-wide association study of facial morphology identifies novel genetic loci in Han Chinese

被引：0

作者：

Yin Huang ^{[1
]}

Dan Li ^{[1
,2
]}

Lu Qiao ^{[1
]}

Yu Liu ^{[1
]}

Qianqian Peng ^{[1
]}

Sijie Wu ^{[1
,3
]}

Manfei Zhang ^{[1
,3
]}

Yajun Yang ^{[3
,4
]}

Jingze Tan ^{[3
,4
]}

Shuhua Xu ^{[1
,5
,6
,7
]}

Li Jin ^{[1
,3
,4
,5
]}

Sijia Wang ^{[1
,5
,6
]}

Kun Tang ^{[1
,2
]}

Stefan Grünewald ^{[1
]}

机构：

[1] 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, CA

[2] Deep Blue Technology (Shanghai) Co., Ltd

[3] State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University

[4] Fudan-Taizhou Institute of Health Sciences

[5] Collaborative Innovation Center of Genetics and Development

[6] Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences

[7] School of Life Science and Technology, Shanghai Tech University

来源：

Journal of Genetics and Genomics | 2021年 / 48卷 / 03期

基金：

中国国家自然科学基金;

关键词：

Genome-wide association study; Facial morphology; Automatic phenotyping; Visualization;

D O I：

暂无

中图分类号：

Q987 [人类遗传学];

学科分类号：

071007 ;

摘要：

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 3 D normal human faces of 2,659 Han Chinese with autosegment phenotypes of facial morphology. We identify singlenucleotide polymorphisms(SNPs) encompassing four genomic regions showing significant associations with different facial regions, including SNPs in DENND1 B associated with the chin, SNPs among PISRT1 associated with eyes, SNPs between DCHS2 and SFRP2 associated with the nose, and SNPs in VPS13 B associated with the nose. We replicate 24 SNPs from previously reported genetic loci in different populations, whose candidate genes are DCHS2, SUPT3 H, HOXD1, SOX9, PAX3, and EDAR. These results provide a more comprehensive understanding of the genetic basis of variation in human facial morphology.

引用

页码：198 / 207

页数：10

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