Nature Communications (Aug 2019)

Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese

  • Ikuyo Kou,
  • Nao Otomo,
  • Kazuki Takeda,
  • Yukihide Momozawa,
  • Hsing-Fang Lu,
  • Michiaki Kubo,
  • Yoichiro Kamatani,
  • Yoji Ogura,
  • Yohei Takahashi,
  • Masahiro Nakajima,
  • Shohei Minami,
  • Koki Uno,
  • Noriaki Kawakami,
  • Manabu Ito,
  • Ikuho Yonezawa,
  • Kei Watanabe,
  • Takashi Kaito,
  • Haruhisa Yanagida,
  • Hiroshi Taneichi,
  • Katsumi Harimaya,
  • Yuki Taniguchi,
  • Hideki Shigematsu,
  • Takahiro Iida,
  • Satoru Demura,
  • Ryo Sugawara,
  • Nobuyuki Fujita,
  • Mitsuru Yagi,
  • Eijiro Okada,
  • Naobumi Hosogane,
  • Katsuki Kono,
  • Masaya Nakamura,
  • Kazuhiro Chiba,
  • Toshiaki Kotani,
  • Tsuyoshi Sakuma,
  • Tsutomu Akazawa,
  • Teppei Suzuki,
  • Kotaro Nishida,
  • Kenichiro Kakutani,
  • Taichi Tsuji,
  • Hideki Sudo,
  • Akira Iwata,
  • Tatsuya Sato,
  • Satoshi Inami,
  • Morio Matsumoto,
  • Chikashi Terao,
  • Kota Watanabe,
  • Shiro Ikegawa

DOI
https://doi.org/10.1038/s41467-019-11596-w
Journal volume & issue
Vol. 10, no. 1
pp. 1 – 9

Abstract

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Adolescent idiopathic scoliosis (AIS) is a common pediatric disease leading to spinal deformities. Here, the authors report GWAS followed by genome-wide meta-analysis in up to 79,211 Japanese individuals, identifying 20 genetic loci for AIS, 14 of which were previously unreported, and perform in vitro validation for rs1978060.