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GWAS Study

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

Huang Y, Li D, Qiao L et al.

33593615 PubMed ID
GWAS Study Type
2659 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

HY
Huang Y
LD
Li D
QL
Qiao L
LY
Liu Y
PQ
Peng Q
WS
Wu S
ZM
Zhang M
YY
Yang Y
TJ
Tan J
XS
Xu S
JL
Jin L
WS
Wang S
TK
Tang K
GS
Grünewald S
Chapter II

Abstract

Summary of the research findings

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.

2,659 Han Chinese ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

2659
Total Participants
GWAS
Study Type
No
Replicated
East Asian
Ancestry
China
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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