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

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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

All Science Journal Classification (ASJC) codes

Genetics

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10.1038/ng.645

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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",

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doi = "10.1038/ng.645",

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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

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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.

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

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