SNPping away at the genetic basis of adolescent idiopathic scoliosis

摘要

Adolescent idiopathic scoliosis (AIS) is a genetically complex disorder of spine development, defined by a lateral curvature of the spine of 10º or greater which affects children during their pubertal growth spurt. Prior linkage and candidate gene approaches to elucidating the genetic basis of AIS have been of limited use for identification of candidate genes for this condition. Genome wide association studies (GWAS) have recently identified single nucleotide polymorphisms (SNPs) in LBX1 and G protein-coupled receptor 126 (GPR126) that contribute to AIS occurrence. These discoveries support prior etiologic hypotheses regarding altered somatosensory function and skeletal growth in AIS. However, these loci account for a small percentage of the phenotypic variance associated with AIS, indicating the vast majority of the genetic causes of AIS remain to be delineated. A major translational application regarding understanding the genetic contributions to AIS relates to bracing efficacy.