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GWAS Study

Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese.

Tang CS, Zhang H, Cheung CY et al.

26690388 PubMed ID
GWAS Study Type
12685 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

TC
Tang CS
ZH
Zhang H
CC
Cheung CY
XM
Xu M
HJ
Ho JC
ZW
Zhou W
CS
Cherny SS
ZY
Zhang Y
HO
Holmen O
AK
Au KW
YH
Yu H
XL
Xu L
JJ
Jia J
PR
Porsch RM
SL
Sun L
XW
Xu W
ZH
Zheng H
WL
Wong LY
MY
Mu Y
DJ
Dou J
FC
Fong CH
WS
Wang S
HX
Hong X
DL
Dong L
LY
Liao Y
WJ
Wang J
LL
Lam LS
SX
Su X
YH
Yan H
YM
Yang ML
CJ
Chen J
SC
Siu CW
XG
Xie G
WY
Woo YC
WY
Wu Y
TK
Tan KC
HK
Hveem K
CB
Cheung BM
ZS
Zöllner S
XA
Xu A
EC
Eugene Chen Y
JC
Jiang CQ
ZY
Zhang Y
LT
Lam TH
GS
Ganesh SK
HY
Huo Y
SP
Sham PC
LK
Lam KS
WC
Willer CJ
TH
Tse HF
GW
Gao W
Chapter II

Abstract

Summary of the research findings

Blood lipids are important risk factors for coronary artery disease (CAD). Here we perform an exome-wide association study by genotyping 12,685 Chinese, using a custom Illumina HumanExome BeadChip, to identify additional loci influencing lipid levels. Single-variant association analysis on 65,671 single nucleotide polymorphisms reveals 19 loci associated with lipids at exome-wide significance (P<2.69 × 10(-7)), including three Asian-specific coding variants in known genes (CETP p.Asp459Gly, PCSK9 p.Arg93Cys and LDLR p.Arg257Trp). Furthermore, missense variants at two novel loci-PNPLA3 p.Ile148Met and PKD1L3 p.Thr429Ser-also influence levels of triglycerides and low-density lipoprotein cholesterol, respectively. Another novel gene, TEAD2, is found to be associated with high-density lipoprotein cholesterol through gene-based association analysis. Most of these newly identified coding variants show suggestive association (P<0.05) with CAD. These findings demonstrate that exome-wide genotyping on samples of non-European ancestry can identify additional population-specific possible causal variants, shedding light on novel lipid biology and CAD.

12,685 Chinese ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

12685
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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