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GWAS Study

A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population.

Nakashima M, Chung S, Takahashi A et al.

20711176 PubMed ID
GWAS Study Type
4014 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

NM
Nakashima M
CS
Chung S
TA
Takahashi A
KN
Kamatani N
KT
Kawaguchi T
TT
Tsunoda T
HN
Hosono N
KM
Kubo M
NY
Nakamura Y
ZH
Zembutsu H
Chapter II

Abstract

Summary of the research findings

Keloid is a dermal fibroproliferative growth that results from dysfunction of the wound healing processes. Through a multistage genome-wide association study using 824 individuals with keloid (cases) and 3,205 unaffected controls in the Japanese population, we identified significant associations of keloid with four SNP loci in three chromosomal regions: 1q41, 3q22.3-23 and 15q21.3. The most significant association with keloid was observed at rs873549 (combined P = 5.89 x 10(-23), odds ratio (OR) = 1.77) on chromosome 1. Associations on chromosome 3 were observed at two separate linkage disequilibrium (LD) blocks: rs1511412 in the LD block including FOXL2 with P = 2.31 x 10(-13) (OR = 1.87) and rs940187 in another LD block with P = 1.80 x 10(-13) (OR = 1.98). Association of rs8032158 located in NEDD4 on chromosome 15 yielded P = 5.96 x 10(-13) (OR = 1.51). Our findings provide new insights into the pathophysiology of keloid formation.

178 Japanese ancestry cases, 906 Japanese ancestry controls

Chapter III

Study Statistics

Key metrics and study information

4014
Total Participants
GWAS
Study Type
Yes
Replicated
621 Japanese ancestry cases, 2,271 Japanese ancestry controls
Replication Participants
East Asian
Ancestry
Japan
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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