A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis

Nat Genet. 2011 Oct 23;43(12):1237-40. doi: 10.1038/ng.974.


Adolescent idiopathic scoliosis is a pediatric spinal deformity affecting 2-3% of school-age children worldwide(1). Genetic factors have been implicated in its etiology(2). Through a genome-wide association study (GWAS) and replication study involving a total of 1,376 Japanese females with adolescent idiopathic scoliosis and 11,297 female controls, we identified a locus at chromosome 10q24.31 associated with adolescent idiopathic scoliosis susceptibility. The most significant SNP (rs11190870; combined P = 1.24 × 10(-19); odds ratio (OR) = 1.56) is located near LBX1 (encoding ladybird homeobox 1). The identification of this susceptibility locus provides new insights into the pathogenesis of adolescent idiopathic scoliosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Case-Control Studies
  • Child
  • Female
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Haplotypes
  • Homeodomain Proteins / genetics*
  • Humans
  • Linkage Disequilibrium
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Principal Component Analysis
  • Scoliosis / genetics*
  • Transcription Factors / genetics*
  • Young Adult


  • Homeodomain Proteins
  • LBX1 protein, human
  • Transcription Factors