Current progress in genetic research of adolescent idiopathic scoliosis

Abstract

Previous genetic linkage analysis and candidate gene association analysis have unveiled dozens of variants associated with the development of adolescent idiopathic scoliosis (AIS), which however can seldom be replicated in different ethnics. Recently, two genome-wide association studies of AIS performed in Japan revealed that ladybird homeobox 1 (LBX1) gene and G protein-coupled receptor 126 (GPR126) gene could play a role in the etiopathogenesis of the disease. Since the association between these two genes and AIS were successfully validated in the Caucasian and the Chinese population, LBX1 gene and GPR126 gene were the most reliable genetic variants underling the development of AIS.