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

Sci Rep. 2018 Aug 1;8(1):11575. doi: 10.1038/s41598-018-29011-7.

Abstract

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Ethnic Groups
  • Europe
  • Far East
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study*
  • Humans
  • Receptors, G-Protein-Coupled / genetics*
  • Scoliosis / genetics*
  • United States

Substances

  • ADGRG6 protein, human
  • Receptors, G-Protein-Coupled