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

Shiro Ikegawa and colleagues identify common variants near LBX1 associated with adolescent idiopathic scoliosis. LBX1 encodes a homeobox protein expressed in the dorsal spinal cord and skeletal muscle that may contribute to scoliosis risk by altering somatosensory function. Adolescent idiopathic scoliosis is a pediatric spinal deformity affecting 2–3% of school-age children worldwide1. Genetic factors have been implicated in its etiology2. 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.