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GWAS Study

A large-scale genome-wide association and meta-analysis identified four novel susceptibility loci for leprosy.

Wang Z, Sun Y, Fu X et al.

27976721 PubMed ID
GWAS Study Type
23766 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

WZ
Wang Z
SY
Sun Y
FX
Fu X
YG
Yu G
WC
Wang C
BF
Bao F
YZ
Yue Z
LJ
Li J
SL
Sun L
IA
Irwanto A
YY
Yu Y
CM
Chen M
MZ
Mi Z
WH
Wang H
HP
Huai P
LY
Li Y
DT
Du T
YW
Yu W
XY
Xia Y
XH
Xiao H
YJ
You J
LJ
Li J
YQ
Yang Q
WN
Wang N
SP
Shang P
NG
Niu G
CX
Chi X
WX
Wang X
CJ
Cao J
CX
Cheng X
LH
Liu H
LJ
Liu J
ZF
Zhang F
Chapter II

Abstract

Summary of the research findings

Leprosy, a chronic infectious disease, results from the uncultivable pathogen Mycobacterium leprae (M. leprae), and usually progresses to peripheral neuropathy and permanent progressive deformity if not treated. Previously published genetic studies have identified 18 gene/loci significantly associated with leprosy at the genome-wide significant level. However as a complex disease, only a small proportion of leprosy risk could be explained by those gene/loci. To further identify more susceptibility gene/loci, we hereby performed a three-stage GWAS comprising 8,156 leprosy patients and 15,610 controls of Chinese ancestry. Four novel loci were identified including rs6807915 on 3p25.2 (P=1.94 × 10-8, OR=0.89), rs4720118 on 7p14.3 (P=3.85 × 10-10, OR=1.16), rs55894533 on 8p23.1 (P=5.07 × 10-11, OR=1.15) and rs10100465 on 8q24.11 (P=2.85 × 10-11, OR=0.85). Altogether, these findings have provided new insight and significantly expanded our understanding of the genetic basis of leprosy.

2,743 Chinese ancestry cases, 3,573 Chinese ancestry controls

Chapter III

Study Statistics

Key metrics and study information

23766
Total Participants
GWAS
Study Type
Yes
Replicated
5,413 Han Chinese ancestry cases, 12,037 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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