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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 −20 ; 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.

A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis