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

作者：Takahashi Yohei; Kou Ikuyo; Takahashi Atsushi; Johnson Todd A; Kono Katsuki; Kawakami Noriaki; Uno Koki; Ito Manabu; Minami Shohei; Yanagida Haruhisa; Taneichi Hiroshi; Tsuji Taichi; Suzuki Teppei; Sudo Hideki; Kotani Toshiaki; Watanabe Kota; Chiba Kazuhiro; Hosono Naoya; Kamatani Naoyuki; Tsunoda Tatsuhiko; Toyama Yoshiaki; Kubo Michiaki; Matsumoto Morio; Ikegawa Shiro^*

来源：Nature Genetics, 2011, 43(12): 1237-U96.

DOI：10.1038/ng.974

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 x 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.

• 出版日期2011-12