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GWAS Study

Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy.

Zhang F, Liu H, Chen S et al.

22019778 PubMed ID
GWAS Study Type
14887 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

ZF
Zhang F
LH
Liu H
CS
Chen S
LH
Low H
SL
Sun L
CY
Cui Y
CT
Chu T
LY
Li Y
FX
Fu X
YY
Yu Y
YG
Yu G
SB
Shi B
TH
Tian H
LD
Liu D
YX
Yu X
LJ
Li J
LN
Lu N
BF
Bao F
YC
Yuan C
LJ
Liu J
LH
Liu H
ZL
Zhang L
SY
Sun Y
CM
Chen M
YQ
Yang Q
YH
Yang H
YR
Yang R
ZL
Zhang L
WQ
Wang Q
LH
Liu H
ZF
Zuo F
ZH
Zhang H
KC
Khor CC
HM
Hibberd ML
YS
Yang S
LJ
Liu J
ZX
Zhang X
Chapter II

Abstract

Summary of the research findings

We performed a genome-wide association study with 706 individuals with leprosy and 5,581 control individuals and replicated the top 24 SNPs in three independent replication samples, including a total of 3,301 individuals with leprosy and 5,299 control individuals from China. Two loci not previously associated with the disease were identified with genome-wide significance: rs2275606 (combined P = 3.94 × 10(-14), OR = 1.30) on 6q24.3 and rs3762318 (combined P = 3.27 × 10(-11), OR = 0.69) on 1p31.3. These associations implicate IL23R and RAB32 as new susceptibility genes for leprosy. Furthermore, we identified evidence of interaction between the NOD2 and RIPK2 loci, which is consistent with the biological association of the proteins encoded by these genes (NOD2-RIPK2 complex) in activating the NF-κB pathway as a part of the host defense response to infection. Our findings have expanded the biological functions of IL23R by uncovering its involvement in infectious disease susceptibility and suggest a potential involvement of autophagocytosis in leprosy pathogenesis. The IL23R association supports previous observations of the marked overlap of susceptibility genes for leprosy and Crohn's disease, implying common pathogenesis mechanisms.

706 Han Chinese ancestry cases, 5,581 Han Chinese ancestry controls

Chapter III

Study Statistics

Key metrics and study information

14887
Total Participants
GWAS
Study Type
Yes
Replicated
3,301 Han Chinese ancestry cases, 5,299 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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