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

Yin Huang; 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

doi:10.1016/j.jgg.2020.10.004

Volume 48 Issue 3

Mar. 2021

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Article Navigation > Journal of Genetics and Genomics > 2021 > 48(3): 198-207

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

doi: 10.1016/j.jgg.2020.10.004

Yin Huang^{a, #},
Dan Li^{a, b, #},
Lu Qiao^a,
Yu Liu^a,
Qianqian Peng^a,
Sijie Wu^{a, c},
Manfei Zhang^{a, c},
Yajun Yang^{c, d},
Jingze Tan^{c, d},
Shuhua Xu^{a, e, f, g},
Li Jin^{a, c, d, e},
Sijia Wang^{a, e, f},
Kun Tang^{a, b},
Stefan Grünewald^a

a
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
b
DeepBlue Technology (Shanghai) Co., Ltd, Shanghai 200336, China
c
State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai 200433, China
d
Fudan-Taizhou Institute of Health Sciences, Taizhou 225300, China
e
Collaborative Innovation Center of Genetics and Development, Shanghai 200438, China
f
Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming, Yunnan 650223, China
g
School of Life Science and Technology, ShanghaiTech University, Shanghai 201210, China

More Information

Corresponding 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.
- Genome-wide association study,
- Facial morphology,
- Automatic phenotyping,
- Visualization

These authors contributed equally to this work.

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References(60)

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