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

• DOI: 10.1038/ng.974
• Publication Date: 2011-10-23T18:16:26Z
• Authors: Yohei Takahashi; Ikuyo Kou; Atsushi Takahashi; Todd A Johnson; Katsuki Kono; Noriaki Kawakami; Koki Uno; Manabu Ito; Shohei Minami; Haruhisa Yanagida; Hiroshi Taneichi; Taichi Tsuji; Teppei Suzuki; Hideki Sudo; Toshiaki Kotani; Kota Watanabe; Kazuhiro Chiba; Naoya Hosono; Naoyuki Kamatani; Tatsuhiko Tsunoda; Yoshiaki Toyama; Michiaki Kubo; Morio Matsumoto; Shiro Ikegawa
• Keywords: Genome-wide Association Study; Idiopathic scoliosis; SNP; Genetic Association; Etiology

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.