An international meta-analysis confirms the association of BNC2 with adolescent idiopathic scoliosis

Yoji Ogura, Kazuki Takeda, Ikuyo Kou, Anas Khanshour, Anna Grauers, Hang Zhou, Gang Liu, Yan Hui Fan, Taifeng Zhou, Zhihong Wu, Yohei Takahashi, Morio Matsumoto, Noriaki Kawakami, Taichi Tsuji, Koki Uno, Teppei Suzuki, Manabu Ito, Shohei Minami, Toshiaki Kotani, Tsuyoshi SakumaHaruhisa Yanagida, Hiroshi Taneichi, Ikuho Yonezawa, Hideki Sudo, Kazuhiro Chiba, Naobumi Hosogane, Kotaro Nishida, Kenichiro Kakutani, Tsutomu Akazawa, Takashi Kaito, Kei Watanabe, Katsumi Harimaya, Yuki Taniguchi, Hideki Shigematsu, Satoru Demura, Takahiro Iida, Katsuki Kono, Eijiro Okada, Nobuyuki Fujita, Mitsuru Yagi, Masaya Nakamura, Lori A. Karol, Karl E. Rathjen, Daniel J. Sucato, John G. Birch, Charles E. Johnston, Benjamin S. Richards, Brandon Ramo, Amy L. McIntosh, John A. Herring, Todd A. Milbrandt, Vishwas R. Talwakar, Henry J. Iwinski, Ryan D. Muchow, J. Channing Tassone, X. C. Liu, Richard Shindell, William Schrader, Craig Eberson, Anthony Lapinsky, Randall Loder, Joseph Davey, Elisabet Einarsdottir, Juha Kere, Dongsheng Huang, Guixing Qiu, Leilei Xu, Yong Qiu, Carol A. Wise, You Qiang Song, Nan Wu, Peiqiang Su, Paul Gerdhem, Koota Watanabe, Shiro Ikegawa

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Abstract

Adolescent idiopathic scoliosis (AIS) is a common spinal deformity with the prevalence of approximately 3%. We previously conducted a genome-wide association study (GWAS) using a Japanese cohort and identified a novel locus on chromosome 9p22.2. However, a replication study using multi-population cohorts has not been conducted. To confirm the association of 9p22.2 locus with AIS in multi-ethnic populations, we conducted international meta-Analysis using eight cohorts. In total, we analyzed 8,756 cases and 27,822 controls. The analysis showed a convincing evidence of association between rs3904778 and AIS. Seven out of eight cohorts had significant P value, and remaining one cohort also had the same trend as the seven. The combined P was 3.28 × 10-18 (odds ratio = 1.19, 95% confidence interval = 1.14-1.24). In silico analyses suggested that BNC2 is the AIS susceptibility gene in this locus.

Original languageEnglish
Article number4730
JournalScientific Reports
Volume8
Issue number1
DOIs
Publication statusPublished - 2018 Dec 1

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ASJC Scopus subject areas

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Cite this

Ogura, Y., Takeda, K., Kou, I., Khanshour, A., Grauers, A., Zhou, H., Liu, G., Fan, Y. H., Zhou, T., Wu, Z., Takahashi, Y., Matsumoto, M., Kawakami, N., Tsuji, T., Uno, K., Suzuki, T., Ito, M., Minami, S., Kotani, T., ... Ikegawa, S. (2018). An international meta-analysis confirms the association of BNC2 with adolescent idiopathic scoliosis. Scientific Reports, 8(1), [4730]. https://doi.org/10.1038/s41598-018-22552-x