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Genomic Study of Locomotive Diseases. Genome-wide association study for adolescent idiopathic scoliosis. Ogura Yoji 1 , Kou Ikuyo 2 , Scoliosis Japan 3 , Matsumoto Morio 4 , Watanabe Kota 5 , Ikegawa Shiro 6 1Department of Orthopaedic Surgery, Keio University, Japan.Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Japan. 2Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Japan. 3Japan Scoliosis Clinical Research Group 4Department of Orthopaedic Surgery, Keio University, Japan. 5Department of Orthopaedic Surgery, Keio University, Japan. 6Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Japan. pp.553-560
Published Date 2016/3/28
DOI https://doi.org/10.20837/4201604047
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 Adolescent idiopathic scoliosis(AIS)is a polygenic disease. Genome-wide association studies(GWASs)have been performed for a lot of polygenic diseases. For AIS, we conducted GWAS and identified the first AIS locus near LBX1. After the discovery, we have extended our study by increasing the numbers of subjects and SNPs. In total, our Japanese GWAS has identified four susceptibility genes. GWASs for AIS have also been performed in the USA and China, which identified one and three susceptibility genes, respectively. Here we review GWASs in Japan and abroad and functional analysis to clarify the pathomechanism of AIS.



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電子版ISSN 印刷版ISSN 0917-5857 医薬ジャーナル社

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