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 journalArticle

90 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 languageEnglish
Pages (from-to)768-772
Number of pages5
JournalNature Genetics
Volume42
Issue number9
DOIs
Publication statusPublished - 01-01-2010

Fingerprint

Keloid
Genome-Wide Association Study
Linkage Disequilibrium
Odds Ratio
Population
Chromosomes, Human, Pair 15
Chromosomes, Human, Pair 3
Chromosomes, Human, Pair 1
Wound Healing
Single Nucleotide Polymorphism
Skin
Growth

All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

Nakashima, M., Chung, S., Takahashi, A., Kamatani, N., Kawaguchi, T., Tsunoda, T., ... Zembutsu, H. (2010). A genome-wide association study identifies four susceptibility loci for keloid in the japanese population. Nature Genetics, 42(9), 768-772. https://doi.org/10.1038/ng.645
Nakashima, Mitsuko ; Chung, Suyoun ; Takahashi, Atsushi ; Kamatani, Naoyuki ; Kawaguchi, Takahisa ; Tsunoda, Tatsuhiko ; Hosono, Naoya ; Kubo, Michiaki ; Nakamura, Yusuke ; Zembutsu, Hitoshi. / A genome-wide association study identifies four susceptibility loci for keloid in the japanese population. In: Nature Genetics. 2010 ; Vol. 42, No. 9. pp. 768-772.
@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 = "1",
day = "1",
doi = "10.1038/ng.645",
language = "English",
volume = "42",
pages = "768--772",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "9",

}

Nakashima, M, Chung, S, Takahashi, A, Kamatani, N, Kawaguchi, T, Tsunoda, T, Hosono, N, Kubo, M, Nakamura, Y & Zembutsu, H 2010, 'A genome-wide association study identifies four susceptibility loci for keloid in the japanese population', Nature Genetics, vol. 42, no. 9, pp. 768-772. https://doi.org/10.1038/ng.645

A genome-wide association study identifies four susceptibility loci for keloid in the japanese population. / Nakashima, Mitsuko; Chung, Suyoun; Takahashi, Atsushi; Kamatani, Naoyuki; Kawaguchi, Takahisa; Tsunoda, Tatsuhiko; Hosono, Naoya; Kubo, Michiaki; Nakamura, Yusuke; Zembutsu, Hitoshi.

In: Nature Genetics, Vol. 42, No. 9, 01.01.2010, p. 768-772.

Research output: Contribution to journalArticle

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 - 2010/1/1

Y1 - 2010/1/1

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

VL - 42

SP - 768

EP - 772

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 9

ER -

Nakashima M, Chung S, Takahashi A, Kamatani N, Kawaguchi T, Tsunoda T et al. A genome-wide association study identifies four susceptibility loci for keloid in the japanese population. Nature Genetics. 2010 Jan 1;42(9):768-772. https://doi.org/10.1038/ng.645