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GWAS Study

A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.

Yu XQ, Li M, Zhang H et al.

22197929 PubMed ID
GWAS Study Type
11871 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

YX
Yu XQ
LM
Li M
ZH
Zhang H
LH
Low HQ
WX
Wei X
WJ
Wang JQ
SL
Sun LD
SK
Sim KS
LY
Li Y
FJ
Foo JN
WW
Wang W
LZ
Li ZJ
YX
Yin XY
TX
Tang XQ
FL
Fan L
CJ
Chen J
LR
Li RS
WJ
Wan JX
LZ
Liu ZS
LT
Lou TQ
ZL
Zhu L
HX
Huang XJ
ZX
Zhang XJ
LZ
Liu ZH
LJ
Liu JJ
Chapter II

Abstract

Summary of the research findings

We performed a two-stage genome-wide association study of IgA nephropathy (IgAN) in Han Chinese, with 1,434 affected individuals (cases) and 4,270 controls in the discovery phase and follow-up of the top 61 SNPs in an additional 2,703 cases and 3,464 controls. We identified associations at 17p13 (rs3803800, P = 9.40 × 10(-11), OR = 1.21; rs4227, P = 4.31 × 10(-10), OR = 1.23) and 8p23 (rs2738048, P = 3.18 × 10(-14), OR = 0.79) that implicated the genes encoding tumor necrosis factor (TNFSF13) and α-defensin (DEFA) as susceptibility genes. In addition, we found multiple associations in the major histocompatibility complex (MHC) region (rs660895, P = 4.13 × 10(-20), OR = 1.34; rs1794275, P = 3.43 × 10(-13), OR = 1.30; rs2523946, P = 1.74 × 10(-11), OR = 1.21) and confirmed a previously reported association at 22q12 (rs12537, P = 1.17 × 10(-11), OR = 0.78). We also found that rs660895 was associated with clinical subtypes of IgAN (P = 0.003), proteinuria (P = 0.025) and IgA levels (P = 0.047). Our findings show that IgAN is associated with variants near genes involved in innate immunity and inflammation.

1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls

Chapter III

Study Statistics

Key metrics and study information

11871
Total Participants
GWAS
Study Type
Yes
Replicated
2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls
Replication Participants
East Asian
Ancestry
China
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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