An international meta-analysis confirms the association of BNC2 with adolescent idiopathic scoliosis

Sci Rep. 2018 Mar 16;8(1):4730. doi: 10.1038/s41598-018-22552-x.

Abstract

Adolescent idiopathic scoliosis (AIS) is a common spinal deformity with the prevalence of approximately 3%. We previously conducted a genome-wide association study (GWAS) using a Japanese cohort and identified a novel locus on chromosome 9p22.2. However, a replication study using multi-population cohorts has not been conducted. To confirm the association of 9p22.2 locus with AIS in multi-ethnic populations, we conducted international meta-analysis using eight cohorts. In total, we analyzed 8,756 cases and 27,822 controls. The analysis showed a convincing evidence of association between rs3904778 and AIS. Seven out of eight cohorts had significant P value, and remaining one cohort also had the same trend as the seven. The combined P was 3.28 × 10-18 (odds ratio = 1.19, 95% confidence interval = 1.14-1.24). In silico analyses suggested that BNC2 is the AIS susceptibility gene in this locus.

Publication types

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

MeSH terms

  • Adolescent
  • Asian People / genetics*
  • DNA-Binding Proteins / genetics*
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • International Agencies
  • Polymorphism, Single Nucleotide*
  • Scoliosis / genetics*
  • Scoliosis / pathology

Substances

  • BNC2 protein, human
  • DNA-Binding Proteins