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冠心病的遗传学——临床医生视角

Genetics of coronary artery disease - a clinician's perspective.

作者信息

Sasidhar Manda V, Reddy Satyajit, Naik Ashutosh, Naik Sudhir

机构信息

Senior Scientist, Apollo Hospitals Educational and Research Foundation (AHERF), Hyderabad, India.

MD Candidate, Alpert Medical School of Brown University, Providence, USA.

出版信息

Indian Heart J. 2014 Nov-Dec;66(6):663-71. doi: 10.1016/j.ihj.2014.12.008. Epub 2014 Dec 18.

Abstract

Coronary artery disease (CAD) is the major cause of fatality and disability among all cardiovascular diseases (CVD). Intricate interactions of genes and environment dictate the outcomes of CAD. Technological advances in the different fields of genetics including linkage studies (LS), candidate gene studies (CGS) and genome-wide association studies (GWA studies) have augmented the knowledge of pathogenesis of CAD. LS were more successful in identifying genetic variants among monogenic disease. GWA studies were relatively popular in identification of variation in polygenic disease. Until now, GWA studies recognized about 50 loci determining around 6% of the heritability in CAD. Clinical utility of the above knowledge would result in better CAD management, but validation of the variants in native population is warranted for active adoption into the clinic. The major aim of this review is to provide an adequate perspective of our current understanding and advances of genetics in CAD.

摘要

冠状动脉疾病(CAD)是所有心血管疾病(CVD)中导致死亡和残疾的主要原因。基因与环境之间复杂的相互作用决定了CAD的发病结果。遗传学不同领域的技术进步,包括连锁研究(LS)、候选基因研究(CGS)和全基因组关联研究(GWA研究),都增加了对CAD发病机制的认识。LS在识别单基因疾病中的遗传变异方面更为成功。GWA研究在识别多基因疾病的变异方面相对更受欢迎。到目前为止,GWA研究识别出了约50个位点,这些位点决定了CAD约6%的遗传力。上述知识的临床应用将有助于更好地管理CAD,但为了能在临床上积极应用,有必要在本地人群中验证这些变异。本综述的主要目的是对我们目前对CAD遗传学的理解和进展提供一个全面的视角。

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