@article{4c0e895337b6473fa97e9f698947f81b,
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 Johnston, {Charles E.} and Richards, {Benjamin S.} and Brandon Ramo and McIntosh, {Amy L.} and Herring, {John A.} and Wise, {Carol A.}",
note = "Funding Information: We thank all participating subjects and clinical staff at collaborating institutes. We specially thank Nobumasa Suzuki, Masashi Saito, Michihiro Kamata and Hitoshi Hase for patient recruitment, and Yoshie Takahashi, Sayaka Tominaga, Tomomi Oguma and the members of Laboratory for Genotyping Development for technical assistance. We also thank Dr. Jianguo Zhang, Jianxiong Shen, Shugang Li, Yipeng Wang, Hong Zhao and Yu Zhao from Peking Union Medical College Hospital for patient enrollment and clinical evaluation. This work was conducted as part of the BioBank Japan Project supported by the Japan Agency for Medical Research and Development and by the Ministry of Education, Culture, Sports, Sciences and Technology of the Japanese government and was supported by JSPS KAKENHI Grant Number JP16H05453 (to MM), Hong Kong Health and Medical Research Fund (HMRF No. 04152256) (to YQS), the Swedish Research Council (number K-2013-52X-22198-01-3) (to AG and PG), National Natural Science Foundati on of China (81501852), Beijing Natural Science Foundation (7172175), Beijing nova program (Z161100004916123), Beijing nova program interdisciplinary collaborative project (xxjc201717) and the 2016 Milstein Medical Asian American Partnership Foundation Fellowship Award in Translational Medicine (to NW) and the Scoliosis Research Society, the NIH (P01 HD084387) and the Texas Scottish Rite Hospital Research Fund (to CAW). Publisher Copyright: {\textcopyright} 2018, The Author(s).",
year = "2018",
month = dec,
day = "1",
doi = "10.1038/s41598-018-29011-7",
language = "English (US)",
volume = "8",
journal = "Scientific reports",
issn = "2045-2322",
publisher = "Nature Publishing Group",
number = "1",
}