A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis

Yohei Takahashi; Ikuyo Kou; Atsushi Takahashi; Todd A. Johnson; Katsuki Kono; Noriaki Kawakami; Koki Uno; Manabu Ito; Shohei Minami; Haruhisa Yanagida; Hiroshi Taneichi; Taichi Tsuji; Teppei Suzuki; Hideki Sudo; Toshiaki Kotani; Kota Watanabe; Kazuhiro Chiba; Naoya Hosono; Naoyuki Kamatani; Tatsuhiko Tsunoda; Yoshiaki Toyama; Michiaki Kubo; Morio Matsumoto; Shiro Ikegawa

doi:10.1038/ng.974

A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis

Yohei Takahashi, Ikuyo Kou, Atsushi Takahashi, Todd A. Johnson, Katsuki Kono, Noriaki Kawakami, Koki Uno, Manabu Ito, Shohei Minami, Haruhisa Yanagida, Hiroshi Taneichi, Taichi Tsuji, Teppei Suzuki, Hideki Sudo, Toshiaki Kotani, Kota Watanabe, Kazuhiro Chiba, Naoya Hosono, Naoyuki Kamatani, Tatsuhiko TsunodaYoshiaki Toyama, Michiaki Kubo, Morio Matsumoto, Shiro Ikegawa

整形外科学

研究成果: Article › 査読

188 被引用数 (Scopus)

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Adolescent idiopathic scoliosis is a pediatric spinal deformity affecting 2-3% of school-age children worldwide. Genetic factors have been implicated in its etiology. Through a genome-wide association study (GWAS) and replication study involving a total of 1,376 Japanese females with adolescent idiopathic scoliosis and 11,297 female controls, we identified a locus at chromosome 10q24.31 associated with adolescent idiopathic scoliosis susceptibility. The most significant SNP (rs11190870; combined P = 1.24 × 10 ^-19; odds ratio (OR) = 1.56) is located near LBX1 (encoding ladybird homeobox 1). The identification of this susceptibility locus provides new insights into the pathogenesis of adolescent idiopathic scoliosis.

本文言語	English
ページ（範囲）	1237-1240
ページ数	4
ジャーナル	Nature genetics
巻	43
号	12
DOI	https://doi.org/10.1038/ng.974
出版ステータス	Published - 2011 12月

ASJC Scopus subject areas

遺伝学

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10.1038/ng.974

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Takahashi, Y., Kou, I., Takahashi, A., Johnson, T. A., Kono, K., Kawakami, N., Uno, K., Ito, M., Minami, S., Yanagida, H., Taneichi, H., Tsuji, T., Suzuki, T., Sudo, H., Kotani, T., Watanabe, K., Chiba, K., Hosono, N., Kamatani, N., ... Ikegawa, S. (2011). A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis. Nature genetics, 43(12), 1237-1240. https://doi.org/10.1038/ng.974

Takahashi, Y, Kou, I, Takahashi, A, Johnson, TA, Kono, K, Kawakami, N, Uno, K, Ito, M, Minami, S, Yanagida, H, Taneichi, H, Tsuji, T, Suzuki, T, Sudo, H, Kotani, T, Watanabe, K, Chiba, K, Hosono, N, Kamatani, N, Tsunoda, T, Toyama, Y, Kubo, M, Matsumoto, M & Ikegawa, S 2011, 'A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis', Nature genetics, vol. 43, no. 12, pp. 1237-1240. https://doi.org/10.1038/ng.974

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title = "A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis",

abstract = "Adolescent idiopathic scoliosis is a pediatric spinal deformity affecting 2-3% of school-age children worldwide. Genetic factors have been implicated in its etiology. Through a genome-wide association study (GWAS) and replication study involving a total of 1,376 Japanese females with adolescent idiopathic scoliosis and 11,297 female controls, we identified a locus at chromosome 10q24.31 associated with adolescent idiopathic scoliosis susceptibility. The most significant SNP (rs11190870; combined P = 1.24 × 10 -19; odds ratio (OR) = 1.56) is located near LBX1 (encoding ladybird homeobox 1). The identification of this susceptibility locus provides new insights into the pathogenesis of adolescent idiopathic scoliosis.",

author = "Yohei Takahashi and Ikuyo Kou and Atsushi Takahashi and Johnson, {Todd A.} and Katsuki Kono and Noriaki Kawakami and Koki Uno and Manabu Ito and Shohei Minami and Haruhisa Yanagida and Hiroshi Taneichi and Taichi Tsuji and Teppei Suzuki and Hideki Sudo and Toshiaki Kotani and Kota Watanabe and Kazuhiro Chiba and Naoya Hosono and Naoyuki Kamatani and Tatsuhiko Tsunoda and Yoshiaki Toyama and Michiaki Kubo and Morio Matsumoto and Shiro Ikegawa",

note = "Funding Information: We thank the individuals who participated in this study. We thank N. Suzuki, M. Saito, M. Kamata, N. Hosogane, E. Okada, H. Hase, I. Karasugi, M. Nakajima and A. Miyake for their help in collecting samples and conducting the experimental study and T. Isono for technical assistance. This work was supported by a grant-in-aid from the Japanese Orthopaedic Association (JOA-Subsidized Science Project Research 2009-1) and by BioBank Japan.",

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AU - Kono, Katsuki

AU - Kawakami, Noriaki

AU - Uno, Koki

AU - Ito, Manabu

AU - Minami, Shohei

AU - Yanagida, Haruhisa

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AU - Tsuji, Taichi

AU - Suzuki, Teppei

AU - Sudo, Hideki

AU - Kotani, Toshiaki

AU - Watanabe, Kota

AU - Chiba, Kazuhiro

AU - Hosono, Naoya

AU - Kamatani, Naoyuki

AU - Tsunoda, Tatsuhiko

AU - Toyama, Yoshiaki

AU - Kubo, Michiaki

AU - Matsumoto, Morio

AU - Ikegawa, Shiro

N1 - Funding Information: We thank the individuals who participated in this study. We thank N. Suzuki, M. Saito, M. Kamata, N. Hosogane, E. Okada, H. Hase, I. Karasugi, M. Nakajima and A. Miyake for their help in collecting samples and conducting the experimental study and T. Isono for technical assistance. This work was supported by a grant-in-aid from the Japanese Orthopaedic Association (JOA-Subsidized Science Project Research 2009-1) and by BioBank Japan.

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A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis

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