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.
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We thank the individuals who participated in this study. We thank N. Suzuki, M. Saito, M. Kamata, N. Hosogane, E. Okada, H. Hase, I. Karasugi, M. Nakajima and A. Miyake for their help in collecting samples and conducting the experimental study and T. Isono for technical assistance. This work was supported by a grant-in-aid from the Japanese Orthopaedic Association (JOA-Subsidized Science Project Research 2009-1) and by BioBank Japan.
The authors declare no competing financial interests.
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Takahashi, Y., Kou, I., Takahashi, A. et al. A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis. Nat Genet 43, 1237–1240 (2011) doi:10.1038/ng.974
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