A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis

Japan Scoliosis Clinical Research Group (JSCRG); Texas Scottish Rite Hospital for Children Clinical Group (TSRHCCG)

doi:10.1038/s41598-018-29011-7

A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis

Japan Scoliosis Clinical Research Group (JSCRG)
, Texas Scottish Rite Hospital for Children Clinical Group (TSRHCCG)

研究成果: ジャーナルへの寄稿 › 学術論文 › 査読

32 被引用数 (Scopus)

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Adolescent idiopathic scoliosis (AIS) is the most common type of spinal deformity and has a significant genetic background. Genome-wide association studies (GWASs) identified several susceptibility loci associated with AIS. Among them is a locus on chromosome 6q24.1 that we identified by a GWAS in a Japanese cohort. The locus is represented by rs6570507 located within GPR126. To ensure the association of rs6570507 with AIS, we conducted a meta-analysis using eight cohorts from East Asia, Northern Europe and USA. The analysis included a total of 6,873 cases and 38,916 controls and yielded significant association (combined P = 2.95 × 10⁻²⁰; odds ratio = 1.22), providing convincing evidence of the worldwide association between rs6570507 and AIS susceptibility. In silico analyses strongly suggested that GPR126 is a susceptibility gene at this locus.

本文言語	英語
論文番号	11575
ジャーナル	Scientific reports
巻	8
号	1
DOI	https://doi.org/10.1038/s41598-018-29011-7
出版ステータス	出版済み - 01-12-2018

All Science Journal Classification (ASJC) codes

一般

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10.1038/s41598-018-29011-7

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@article{05af6a6508fb4d9a92fe5507c83d4113,

title = "A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis",

abstract = "Adolescent idiopathic scoliosis (AIS) is the most common type of spinal deformity and has a significant genetic background. Genome-wide association studies (GWASs) identified several susceptibility loci associated with AIS. Among them is a locus on chromosome 6q24.1 that we identified by a GWAS in a Japanese cohort. The locus is represented by rs6570507 located within GPR126. To ensure the association of rs6570507 with AIS, we conducted a meta-analysis using eight cohorts from East Asia, Northern Europe and USA. The analysis included a total of 6,873 cases and 38,916 controls and yielded significant association (combined P = 2.95 × 10−20; odds ratio = 1.22), providing convincing evidence of the worldwide association between rs6570507 and AIS susceptibility. In silico analyses strongly suggested that GPR126 is a susceptibility gene at this locus.",

author = "\{Japan Scoliosis Clinical Research Group (JSCRG)\} and \{Texas Scottish Rite Hospital for Children Clinical Group (TSRHCCG)\} and Ikuyo Kou and Kota Watanabe and Yohei Takahashi and Yukihide Momozawa and Anas Khanshour and Anna Grauers and Hang Zhou and Gang Liu and Fan, \{Yan Hui\} and Kazuki Takeda and Yoji Ogura and Taifeng Zhou and Yusuke Iwasaki and Michiaki Kubo and Zhihong Wu and Morio Matsumoto and Noriaki Kawakami and Koki Uno and Teppei Suzuki and Hideki Sudo and Shohei Minami and Toshiaki Kotani and Manabu Ito and Haruhisa Yanagida and Hiroshi Taneichi and Ikuho Yonezawa and Kazuhiro Chiba and Naobumi Hosogane and Nobuyuki Fujita and Mitsuru Yagi and Katsuki Kono and Eijiro Okada and Kotaro Nishida and Kenichiro Kakutani and Tsuyoshi Sakuma and Katsumi Harimaya and Takashi Kaito and Kei Watanabe and Yuki Taniguchi and Taichi Tsuji and Tsutomu Akazawa and Karol, \{Lori A.\} and Rathjen, \{Karl E.\} and Sucato, \{Daniel J.\} and Birch, \{John G.\} and Johnston, \{Charles E.\} and Richards, \{Benjamin S.\} and Brandon Ramo and McIntosh, \{Amy L.\} and Herring, \{John A.\}",

note = "Publisher Copyright: {\textcopyright} 2018, The Author(s).",

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doi = "10.1038/s41598-018-29011-7",

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AU - Japan Scoliosis Clinical Research Group (JSCRG)

AU - Texas Scottish Rite Hospital for Children Clinical Group (TSRHCCG)

AU - Kou, Ikuyo

AU - Watanabe, Kota

AU - Takahashi, Yohei

AU - Momozawa, Yukihide

AU - Khanshour, Anas

AU - Grauers, Anna

AU - Zhou, Hang

AU - Liu, Gang

AU - Fan, Yan Hui

AU - Takeda, Kazuki

AU - Ogura, Yoji

AU - Zhou, Taifeng

AU - Iwasaki, Yusuke

AU - Kubo, Michiaki

AU - Wu, Zhihong

AU - Matsumoto, Morio

AU - Kawakami, Noriaki

AU - Uno, Koki

AU - Suzuki, Teppei

AU - Sudo, Hideki

AU - Minami, Shohei

AU - Kotani, Toshiaki

AU - Ito, Manabu

AU - Yanagida, Haruhisa

AU - Taneichi, Hiroshi

AU - Yonezawa, Ikuho

AU - Chiba, Kazuhiro

AU - Hosogane, Naobumi

AU - Fujita, Nobuyuki

AU - Yagi, Mitsuru

AU - Kono, Katsuki

AU - Okada, Eijiro

AU - Nishida, Kotaro

AU - Kakutani, Kenichiro

AU - Sakuma, Tsuyoshi

AU - Harimaya, Katsumi

AU - Kaito, Takashi

AU - Watanabe, Kei

AU - Taniguchi, Yuki

AU - Tsuji, Taichi

AU - Akazawa, Tsutomu

AU - Karol, Lori A.

AU - Rathjen, Karl E.

AU - Sucato, Daniel J.

AU - Birch, John G.

AU - Johnston, Charles E.

AU - Richards, Benjamin S.

AU - Ramo, Brandon

AU - McIntosh, Amy L.

AU - Herring, John A.

PY - 2018/12/1

Y1 - 2018/12/1

N2 - Adolescent idiopathic scoliosis (AIS) is the most common type of spinal deformity and has a significant genetic background. Genome-wide association studies (GWASs) identified several susceptibility loci associated with AIS. Among them is a locus on chromosome 6q24.1 that we identified by a GWAS in a Japanese cohort. The locus is represented by rs6570507 located within GPR126. To ensure the association of rs6570507 with AIS, we conducted a meta-analysis using eight cohorts from East Asia, Northern Europe and USA. The analysis included a total of 6,873 cases and 38,916 controls and yielded significant association (combined P = 2.95 × 10−20; odds ratio = 1.22), providing convincing evidence of the worldwide association between rs6570507 and AIS susceptibility. In silico analyses strongly suggested that GPR126 is a susceptibility gene at this locus.

AB - Adolescent idiopathic scoliosis (AIS) is the most common type of spinal deformity and has a significant genetic background. Genome-wide association studies (GWASs) identified several susceptibility loci associated with AIS. Among them is a locus on chromosome 6q24.1 that we identified by a GWAS in a Japanese cohort. The locus is represented by rs6570507 located within GPR126. To ensure the association of rs6570507 with AIS, we conducted a meta-analysis using eight cohorts from East Asia, Northern Europe and USA. The analysis included a total of 6,873 cases and 38,916 controls and yielded significant association (combined P = 2.95 × 10−20; odds ratio = 1.22), providing convincing evidence of the worldwide association between rs6570507 and AIS susceptibility. In silico analyses strongly suggested that GPR126 is a susceptibility gene at this locus.

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UR - https://www.scopus.com/pages/publications/85050965417#tab=citedBy

U2 - 10.1038/s41598-018-29011-7

DO - 10.1038/s41598-018-29011-7

M3 - Article

C2 - 30069010

AN - SCOPUS:85050965417

SN - 2045-2322

VL - 8

JO - Scientific reports

JF - Scientific reports

IS - 1

M1 - 11575

ER -

A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis

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