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GWAS Study

Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behçet's disease susceptibility loci.

Mizuki N, Meguro A, Ota M et al.

20622879 PubMed ID
GWAS Study Type
4101 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

MN
Mizuki N
MA
Meguro A
OM
Ota M
OS
Ohno S
ST
Shiota T
KT
Kawagoe T
IN
Ito N
KJ
Kera J
OE
Okada E
YK
Yatsu K
SY
Song YW
LE
Lee EB
KN
Kitaichi N
NK
Namba K
HY
Horie Y
TM
Takeno M
SS
Sugita S
MM
Mochizuki M
BS
Bahram S
IY
Ishigatsubo Y
IH
Inoko H
Chapter II

Abstract

Summary of the research findings

Behçet's disease is a chronic systemic inflammatory disorder characterized by four major manifestations: recurrent ocular symptoms, oral and genital ulcers and skin lesions. We conducted a genome-wide association study in a Japanese cohort including 612 individuals with Behçet's disease and 740 unaffected individuals (controls). We identified two suggestive associations on chromosomes 1p31.3 (IL23R-IL12RB2, rs12119179, P = 2.7 x 10(-8)) and 1q32.1 (IL10, rs1554286, P = 8.0 x 10(-8)). A meta-analysis of these two loci with results from additional Turkish and Korean cohorts showed genome-wide significant associations (rs1495965 in IL23R-IL12RB2, P = 1.9 x 10(-11), odds ratio = 1.35; rs1800871 in IL10, P = 1.0 x 10(-14), odds ratio = 1.45).

611 Japanese ancestry cases, 737 Japanese ancestry controls

Chapter III

Study Statistics

Key metrics and study information

4101
Total Participants
GWAS
Study Type
Yes
Replicated
119 Korean ancestry cases, 140 Korean ancestry controls, 1,215 Turkish cases, 1,279 Turkish controls
Replication Participants
Other, East Asian
Ancestry
Japan, Republic of Korea
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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