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img  2:  A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis.
 
著者: Yohei Takahashi, Ikuyo Kou, Atsushi Takahashi, Todd A Johnson, Katsuki Kono, Noriaki Kawakami, Koki Uno, Manabu Ito, Shohei Minami, Haruhisa Yanagida, Hiroshi Taneichi, Taichi Tsuji, Teppei Suzuki, Hideki Sudo, Toshiaki Kotani, Kota Watanabe, Kazuhiro Chiba, Naoya Hosono, Naoyuki Kamatani, Tatsuhiko Tsunoda, Yoshiaki Toyama, Michiaki Kubo, Morio Matsumoto, Shiro Ikegawa
雑誌名: Nat Genet. 2011 Oct 23;43(12):1237-40. doi: 10.1038/ng.974. Epub 2011 Oct 23.
Abstract/Text 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.

PMID 22019779  Nat Genet. 2011 Oct 23;43(12):1237-40. doi: 10.1038/ng.974. Epub 2011 Oct 23.
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