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

Y Takahashi, I Kou, A Takahashi, TA Johnson, K Kono… - Nature …, 2011 - nature.com
Y Takahashi, I Kou, A Takahashi, TA Johnson, K Kono, N Kawakami, K Uno, M Ito, S Minami…
Nature genetics, 2011nature.com
Adolescent idiopathic scoliosis is a pediatric spinal deformity affecting 2–3% of school-age
children worldwide. Genetic factors have been implicated in its etiology. 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 …
Abstract
Adolescent idiopathic scoliosis is a pediatric spinal deformity affecting 2–3% of school-age children worldwide. Genetic factors have been implicated in its etiology. 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.
nature.com