A multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis.

Journal of human genetics 2019 May

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Adolescent idiopathic scoliosis (AIS) is the most common type of scoliosis. Controlling its curve progression is the most important clinical task. Although recent genome-wide association studies (GWASs) identified several susceptibility loci associated with the development of AIS, the etiology of curve progression has been still unknown. Our previous GWAS has identified that rs12946942 showed significant association with severe AIS. To confirm the association, we conducted an international meta-analysis using four cohorts with different ethnicity. We analyzed 2272 severe AIS cases and 13,859 controls in total, and found the replication of significant association of rs12946942 (combined P = 7.23×10-13; odds ratio = 1.36, 95% confidence interval = 1.25-1.49). In silico analyses suggested that SOX9 is the most likely susceptibility gene for AIS curve progression in the locus.

Citation

Kazuki Takeda, Ikuyo Kou, Nao Otomo, Anna Grauers, Yan-Hui Fan, Yoji Ogura, Yohei Takahashi, Yukihide Momozawa, Elisabet Einarsdottir, Juha Kere, Japan Scoliosis Clinical Research Group (JSCRG), Morio Matsumoto, Yong Qiu, You-Qiang Song, Paul Gerdhem, Kota Watanabe, Shiro Ikegawa. A multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis. Journal of human genetics. 2019 May;64(5):493-498