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 () and Shiro Ikegawa ()
Additional contact information
Ikuyo Kou: Center for Integrative Medical Sciences, RIKEN
Nao Otomo: Center for Integrative Medical Sciences, RIKEN
Kazuki Takeda: Center for Integrative Medical Sciences, RIKEN
Yukihide Momozawa: Center for Integrative Medical Sciences, RIKEN
Hsing-Fang Lu: Center for Integrative Medical Sciences, RIKEN
Michiaki Kubo: Center for Integrative Medical Sciences, RIKEN
Yoichiro Kamatani: Center for Integrative Medical Sciences, RIKEN
Yoji Ogura: Keio University School of Medicine
Yohei Takahashi: Keio University School of Medicine
Masahiro Nakajima: Center for Integrative Medical Sciences, RIKEN
Shohei Minami: Seirei Sakura Citizen Hospital
Koki Uno: Kobe Medical Center
Noriaki Kawakami: Meijo Hospital
Manabu Ito: Hokkaido Medical Center
Ikuho Yonezawa: Juntendo University School of Medicine
Kei Watanabe: Niigata University Medical and Dental General Hospital
Takashi Kaito: Osaka University Graduate School of Medicine
Haruhisa Yanagida: Fukuoka Children’s Hospital
Hiroshi Taneichi: Dokkyo Medical University School of Medicine
Katsumi Harimaya: Kyushu University Beppu Hospital
Yuki Taniguchi: The University of Tokyo
Hideki Shigematsu: Nara Medical University
Takahiro Iida: Dokkyo Medical University Koshigaya Hospital
Satoru Demura: Kanazawa University Hospital
Ryo Sugawara: Jichi Medical University
Nobuyuki Fujita: Keio University School of Medicine
Mitsuru Yagi: Keio University School of Medicine
Eijiro Okada: Keio University School of Medicine
Naobumi Hosogane: Keio University School of Medicine
Katsuki Kono: Keio University School of Medicine
Masaya Nakamura: Keio University School of Medicine
Kazuhiro Chiba: Keio University School of Medicine
Toshiaki Kotani: Seirei Sakura Citizen Hospital
Tsuyoshi Sakuma: Seirei Sakura Citizen Hospital
Tsutomu Akazawa: Seirei Sakura Citizen Hospital
Teppei Suzuki: Kobe Medical Center
Kotaro Nishida: Kobe University Graduate School of Medicine
Kenichiro Kakutani: Kobe University Graduate School of Medicine
Taichi Tsuji: Meijo Hospital
Hideki Sudo: Hokkaido University Graduate School of Medicine
Akira Iwata: Hokkaido University
Tatsuya Sato: Juntendo University School of Medicine
Satoshi Inami: Dokkyo Medical University School of Medicine
Morio Matsumoto: Keio University School of Medicine
Chikashi Terao: Center for Integrative Medical Sciences, RIKEN
Kota Watanabe: Keio University School of Medicine
Shiro Ikegawa: Center for Integrative Medical Sciences, RIKEN

Nature Communications, 2019, vol. 10, issue 1, 1-9

Abstract: Abstract Adolescent idiopathic scoliosis (AIS) is the most common pediatric spinal deformity. Several AIS susceptibility loci have been identified; however, they could explain only a small proportion of AIS heritability. To identify additional AIS susceptibility loci, we conduct a meta-analysis of the three genome-wide association studies consisting of 79,211 Japanese individuals. We identify 20 loci significantly associated with AIS, including 14 previously not reported loci. These loci explain 4.6% of the phenotypic variance of AIS. We find 21 cis-expression quantitative trait loci-associated genes in seven of the fourteen loci. By a female meta-analysis, we identify additional three significant loci. We also find significant genetic correlations of AIS with body mass index and uric acid. The cell-type specificity analyses show the significant heritability enrichment for AIS in multiple cell-type groups, suggesting the heterogeneity of etiology and pathogenesis of AIS. Our findings provide insights into etiology and pathogenesis of AIS.

Date: 2019
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DOI: 10.1038/s41467-019-11596-w

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