Ogura Yoji, Kou Ikuyo, Scoliosis Japan, Matsumoto Morio, Watanabe Kota, Ikegawa Shiro
Department of Orthopaedic Surgery, Keio University, Japan.Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Japan.
Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Japan.
Clin Calcium. 2016 Apr;26(4):553-60.
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.
青少年特发性脊柱侧凸(AIS)是一种多基因疾病。全基因组关联研究(GWAS)已针对许多多基因疾病开展。对于AIS,我们进行了GWAS并在LBX1附近鉴定出首个AIS基因座。发现该基因座后,我们通过增加受试者和单核苷酸多态性(SNP)的数量来扩展研究。总体而言,我们的日本GWAS已鉴定出四个易感基因。美国和中国也开展了AIS的GWAS,分别鉴定出一个和三个易感基因。在此,我们综述日本国内外的GWAS以及功能分析,以阐明AIS的发病机制。