冠心病全基因组关联研究进展-生物通.pdf

HEREDITAS (Beijing) 2010 2 , 32(2): 97―104 ISSN 0253-9772 综述 DOI: 10.3724/SP.J.1005.2010.00097 冠心病全基因组关联研究进展 杨英, 鲁向锋 , 100037 近年来全基因组关联研究在世界范围内发展迅猛, 研究者应用全基因组关联研究策略发现了一系列疾 病的相关基因或变异, 将疾病的基因组研究推向一个新的阶段。冠心病是一种由环境因素和遗传因素共同作用 导致的复杂疾病, 且是世界范围内死亡和致残的首要原因之一, 世界各地的研究者应用此策略发现了候选基因 关联研究未曾发现的多个冠心病相关易感区域。文章对近年来世界范围内针对冠心病的全基因组关联研究取得 的重要进展进行简要总结, 然后就现阶段全基因组关联研究所面临的挑战以及对未来研究的发展趋势进行分 析阐述, 为进一步探究冠心病的遗传机制提供指导。 全基因组关联研究; 冠心病; 遗传易感位点; 重复验证 Advances in genome-wide association study of coronary heart disease YANG Ying, LU Xiang-Feng Department of Population Genetics and Prevention, Fu Wai Hospital Cardiovascular Institute, Peking Union Medical College Chinese Academy of Medical Sciences , Beijing 100037, China Abstract: As a new effective strategy for researching complex diseases, genome-wide association study (GWAS) has being developed rapidly in recent years worldwide. The world genomic study has been taken into a new stage, since a series of disease related genes or variants have been identified by GWAS strategy. Coronary heart disease (CHD) is a complex disease that is caused by both environmental and genetic factors, and has become one of the leading causes of death and disability worldwide. With the application of GWAS strategy, researchers from all over the world have identified many sus- ceptibility loci or regions of CHD that were unable to be identified by candidate gene case-control study. The present paper reviewed the important progresses worldwide attained in GWAS of CHD in recent years. Then it is also expounded the challenges we are facing nowadays in GWAS as well as the future study direction. The information outlined in this paper provides us a valuable guidance upon further explorat