Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan.
Sci Rep. 2018 Aug 1;8(1):11575. doi: 10.1038/s41598-018-29011-7.
Adolescent idiopathic scoliosis (AIS) is the most common type of spinal deformity and has a significant genetic background. Genome-wide association studies (GWASs) identified several susceptibility loci associated with AIS. Among them is a locus on chromosome 6q24.1 that we identified by a GWAS in a Japanese cohort. The locus is represented by rs6570507 located within GPR126. To ensure the association of rs6570507 with AIS, we conducted a meta-analysis using eight cohorts from East Asia, Northern Europe and USA. The analysis included a total of 6,873 cases and 38,916 controls and yielded significant association (combined P = 2.95 × 10; odds ratio = 1.22), providing convincing evidence of the worldwide association between rs6570507 and AIS susceptibility. In silico analyses strongly suggested that GPR126 is a susceptibility gene at this locus.
青少年特发性脊柱侧凸（AIS）是最常见的脊柱畸形类型，具有显著的遗传背景。全基因组关联研究（GWAS）确定了几个与 AIS 相关的易感位点。其中一个位于染色体 6q24.1 的位点是我们在日本队列的 GWAS 中发现的。该位点由位于 GPR126 内的 rs6570507 代表。为了确保 rs6570507 与 AIS 的关联，我们使用来自东亚、北欧和美国的八个队列进行了荟萃分析。该分析共纳入了 6873 例病例和 38916 例对照，结果显示存在显著关联（合并 P = 2.95×10；优势比 = 1.22），为 rs6570507 与 AIS 易感性之间的全球关联提供了令人信服的证据。计算机分析强烈表明，GPR126 是该位点的一个易感基因。
