| Literature DB >> 30787423 |
Kazuki Takeda1,2, Ikuyo Kou1, Nao Otomo1,2, Anna Grauers3,4, Yan-Hui Fan5, Yoji Ogura1,2, Yohei Takahashi1,2, Yukihide Momozawa6, Elisabet Einarsdottir7,8, Juha Kere7,8,9, Morio Matsumoto2, Yong Qiu10, You-Qiang Song5, Paul Gerdhem4,11, Kota Watanabe12, Shiro Ikegawa13.
Abstract
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.Entities:
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Year: 2019 PMID： 30787423 DOI： 10.1038/s10038-019-0575-7
Source DB: PubMed Journal: J Hum Genet ISSN： 1434-5161 Impact factor: 3.172