A multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis
A multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis
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DOI：
10.1038/s10038-019-0575-7
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发表时间：
2019-05-01
影响因子：
3.5
通讯作者：
Yagi, Mitsuru
中科院分区：
文献类型：
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作者：
Takeda, Kazuki;Kou, Ikuyo;Yagi, Mitsuru
青少年特发性脊柱侧凸(AIS)是最常见的脊柱侧凸类型。控制其曲线进展是临床上最重要的任务。虽然最近的全基因组关联研究(GWASs)发现了几个与AIS发展相关的易感基因，但AIS曲线进展的病因仍不清楚。我们先前的GWAS已经发现rs12946942与严重的AIS显著相关。为了证实这种关联，我们使用了四个不同种族的队列进行了国际荟萃分析。我们分析了2272例重症AIS和13859例对照，发现rs12946942的重复性显著相关(联合P=7.23x10(-13)；优势比=1.36，95%可信区间=1.25-1.49)。计算机分析表明，SOX9基因可能是AIS曲线进展的易感基因。
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 = 7.23x10(-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.