Ogawa Naomi, Imai Yasushi, Morita Hiroyuki, Nagai Ryozo
Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo Bunkyo-ku, Tokyo 113-8655, Japan.
Int J Hypertens. 2010 Sep 21;2010:790539. doi: 10.4061/2010/790539.
Coronary artery disease (CAD) is a multifactorial disease with environmental and genetic determinants. The genetic determinants of CAD have previously been explored by the candidate gene approach. Recently, the data from the International HapMap Project and the development of dense genotyping chips have enabled us to perform genome-wide association studies (GWAS) on a large number of subjects without bias towards any particular candidate genes. In 2007, three chip-based GWAS simultaneously revealed the significant association between common variants on chromosome 9p21 and CAD. This association was replicated among other ethnic groups and also in a meta-analysis. Further investigations have detected several other candidate loci associated with CAD. The chip-based GWAS approach has identified novel and unbiased genetic determinants of CAD and these insights provide the important direction to better understand the pathogenesis of CAD and to develop new and improved preventive measures and treatments for CAD.
冠状动脉疾病（CAD）是一种具有环境和遗传决定因素的多因素疾病。CAD的遗传决定因素此前已通过候选基因方法进行探索。最近，国际人类基因组单体型图计划（International HapMap Project）的数据以及高密度基因分型芯片的发展，使我们能够在大量受试者中进行全基因组关联研究（GWAS），而不会偏向任何特定的候选基因。2007年，三项基于芯片的GWAS同时揭示了9号染色体p21区域常见变异与CAD之间的显著关联。这种关联在其他种族群体中以及在一项荟萃分析中都得到了重复验证。进一步的研究发现了其他几个与CAD相关的候选基因座。基于芯片的GWAS方法已经确定了CAD新的、无偏倚的遗传决定因素，这些见解为更好地理解CAD的发病机制以及开发新的、改进的CAD预防措施和治疗方法提供了重要方向。
