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

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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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Figure 1: Manhattan plot showing the P values from the genome-wide association study (Cochran-Armitage trend test).
Figure 2: LD map, genomic structure and P-value plot of the adolescent idiopathic scoliosis susceptibility locus at chromosome 10q24.


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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.

Author information

Y. Takahashi, K.C., M.M. and S.I. designed the study. M.K. and N. Kamatani contributed to overall GWAS design. Y. Takahashi, Y. Toyama, M.M. and S.I. drafted the manuscript. A.T., T.A.J. and T. Tsunoda analyzed the GWAS data. N.H. and M.K. performed the genotyping for the GWAS. M.M., K.K., K.W., N. Kawakami, T. Tsuji, K.U., T.S., M.I., H.S., S.M., T.K., H.Y. and H.T. managed DNA samples from individuals with adolescent idiopathic scoliosis and clinical data. M.K. managed DNA samples from control individuals. Y. Takahashi, I.K., M.M. and S.I. summarized the results.

Correspondence to Shiro Ikegawa.

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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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