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

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

Keywords : Adolescent,Adult,Aged,Aged,80 and over,Case-Control Studies,Child,Female,Genetic Predisposition to Disease,genetics,Genome-Wide Association Study,Haplotypes,Homeodomain Proteins,Humans,Japan,Joint Diseases,Laboratories,Linkage Disequilibrium,Male,Middle Aged,Odds Ratio,Polymorphism,Single Nucleotide,Principal Component Analysis,Scoliosis,Transcription Factors,Young Adult,, Genomewide,Association,Study,Identifies,Common, repetitive strain injury from typing

Date of Publication : 2011 Oct 23

Authors : Takahashi Y;Kou I;Takahashi A;Johnson TA;Kono K;Kawakami N;Uno K;Ito M;Minami S;Yanagida H;Taneichi H;Tsuji T;Suzuki T;Sudo H;Kotani T;Watanabe K;Chiba K;Hosono N;Kamatani N;Tsunoda T;Toyama Y;Kubo M;Matsumoto M;Ikegawa S;

Organisation : Laboratory of Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo, Japan

Journal of Publication : Nat Genet

Pubmed Link : https://www.ncbi.nlm.nih.gov/pubmed/22019779

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