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

Mitsuko Nakashima; Suyoun Chung; Atsushi Takahashi; Naoyuki Kamatani; Takahisa Kawaguchi; Tatsuhiko Tsunoda; Naoya Hosono; Michiaki Kubo; Yusuke Nakamura; Hitoshi Zembutsu

doi:10.1038/ng.645

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

Mitsuko Nakashima, Suyoun Chung, Atsushi Takahashi, Naoyuki Kamatani, Takahisa Kawaguchi, Tatsuhiko Tsunoda, Naoya Hosono, Michiaki Kubo, Yusuke Nakamura, Hitoshi Zembutsu

Research output: Contribution to journal › Article › peer-review

167 Citations (Scopus)

Abstract

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: 1 q41, 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.

Original language	English
Pages (from-to)	768-772
Number of pages	5
Journal	Nature Genetics
Volume	42
Issue number	9
DOIs	https://doi.org/10.1038/ng.645
Publication status	Published - 09-2010
Externally published	Yes

All Science Journal Classification (ASJC) codes

Genetics

Access to Document

10.1038/ng.645

Cite this

@article{bd906c8dbe454ae6aba327ed9358ca77,

title = "A genome-wide association study identifies four susceptibility loci for keloid in the japanese population",

abstract = "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: 1 q41, 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.",

author = "Mitsuko Nakashima and Suyoun Chung and Atsushi Takahashi and Naoyuki Kamatani and Takahisa Kawaguchi and Tatsuhiko Tsunoda and Naoya Hosono and Michiaki Kubo and Yusuke Nakamura and Hitoshi Zembutsu",

year = "2010",

month = sep,

doi = "10.1038/ng.645",

language = "English",

volume = "42",

pages = "768--772",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

number = "9",

}

TY - JOUR

T1 - A genome-wide association study identifies four susceptibility loci for keloid in the japanese population

AU - Nakashima, Mitsuko

AU - Chung, Suyoun

AU - Takahashi, Atsushi

AU - Kamatani, Naoyuki

AU - Kawaguchi, Takahisa

AU - Tsunoda, Tatsuhiko

AU - Hosono, Naoya

AU - Kubo, Michiaki

AU - Nakamura, Yusuke

AU - Zembutsu, Hitoshi

PY - 2010/9

Y1 - 2010/9

N2 - 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: 1 q41, 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.

AB - 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: 1 q41, 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.

UR - http://www.scopus.com/inward/record.url?scp=77956623570&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=77956623570&partnerID=8YFLogxK

U2 - 10.1038/ng.645

DO - 10.1038/ng.645

M3 - Article

C2 - 20711176

AN - SCOPUS:77956623570

SN - 1061-4036

VL - 42

SP - 768

EP - 772

JO - Nature Genetics

JF - Nature Genetics

IS - 9

ER -

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

Abstract

All Science Journal Classification (ASJC) codes

Access to Document

Other files and links

Fingerprint

Cite this