Laboratory of Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo, Japan.
Nat Genet. 2011 Oct 23;43(12):1237-40. 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 × 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.
青少年特发性脊柱侧凸是一种儿科脊柱畸形，影响全球 2-3%的学龄儿童(1)。遗传因素与该病的病因学有关(2)。通过一项全基因组关联研究（GWAS）和一项涉及 1376 名日本青少年特发性脊柱侧凸女性和 11297 名女性对照的复制研究，我们在染色体 10q24.31 上发现了一个与青少年特发性脊柱侧凸易感性相关的基因座。最显著的 SNP(rs11190870；合并 P=1.24×10(-19)；比值比[OR]=1.56)位于 LBX1(编码瓢虫同源盒 1)附近。该易感基因座的确定为青少年特发性脊柱侧凸的发病机制提供了新的见解。
