Khera Amit V, Kathiresan Sekar
Division of Cardiology, Department of Medicine and Center for Genomic Medicine, Massachusetts General Hospital; Cardiovascular Disease Initiative, Broad Institute of Harvard and Massachusetts Institute of Technology, 185 Cambridge Street, CPZN 5.252, Boston, Massachusetts 02114, USA.
Nat Rev Genet. 2017 Jun;18(6):331-344. doi: 10.1038/nrg.2016.160. Epub 2017 Mar 13.
Coronary artery disease is the leading global cause of mortality. Long recognized to be heritable, recent advances have started to unravel the genetic architecture of the disease. Common variant association studies have linked approximately 60 genetic loci to coronary risk. Large-scale gene sequencing efforts and functional studies have facilitated a better understanding of causal risk factors, elucidated underlying biology and informed the development of new therapeutics. Moving forwards, genetic testing could enable precision medicine approaches by identifying subgroups of patients at increased risk of coronary artery disease or those with a specific driving pathophysiology in whom a therapeutic or preventive approach would be most useful.
冠状动脉疾病是全球主要的死亡原因。长期以来人们都认识到它具有遗传性，最近的进展已开始揭示该疾病的遗传结构。常见变异关联研究已将大约60个基因位点与冠心病风险联系起来。大规模基因测序工作和功能研究有助于更好地理解因果风险因素，阐明潜在生物学机制，并为新疗法的开发提供依据。展望未来，基因检测可通过识别冠心病风险增加的患者亚组或具有特定驱动病理生理学的患者（对这些患者采取治疗或预防方法最为有用）来实现精准医疗。
