TY - JOUR
T1 - A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis
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.
N1 - 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:
© 2018, The Author(s).
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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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 -