Journal
NATURE GENETICS
Volume 43, Issue 12, Pages 1237-U96Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.974
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Funding
- Japanese Orthopaedic Association (JOA) [2009-1]
- BioBank Japan
- Grants-in-Aid for Scientific Research [22116010, 23592150, 221S0001] Funding Source: KAKEN
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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.
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