Polygenic Scores to Assess Atherosclerotic Cardiovascular Disease Risk Clinical Perspectives and Basic Implications

被引：108

作者：

Aragam, Krishna G.

Natarajan, Pradeep

机构：

[1] Massachusetts Gen Hosp, Cardiovasc Res Ctr, Boston, MA 02114 USA

[2] Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA

[3] Harvard Med Sch, Dept Med, Boston, MA 02115 USA

来源：

CIRCULATION RESEARCH | 2020年 / 126卷 / 09期

关键词：

atherosclerosis; cardiovascular disease; coronary artery disease; genome-wide association study; genotype; CORONARY-HEART-DISEASE; GENOME-WIDE ASSOCIATION; SINGLE NUCLEOTIDE POLYMORPHISMS; GENETIC RISK; FAMILIAL HYPERCHOLESTEROLEMIA; ARTERY-DISEASE; MYOCARDIAL-INFARCTION; PREDICTIVE ACCURACY; GENERAL-POPULATION; INCREMENTAL VALUE;

D O I：

10.1161/CIRCRESAHA.120.315928

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

An individual's susceptibility to atherosclerotic cardiovascular disease is influenced by numerous clinical and lifestyle factors, motivating the multifaceted approaches currently endorsed for primary and secondary cardiovascular disease prevention. With growing knowledge of the genetic basis of atherosclerotic cardiovascular disease-in particular, coronary artery disease-and its contribution to disease pathogenesis, there is increased interest in understanding the potential clinical utility of a genetic predictor that might further refine the assessment and management of atherosclerotic cardiovascular disease risk. Rapid scientific and technological advances have enabled widespread genotyping efforts and dynamic research in the field of coronary artery disease genetic risk prediction. In this review, we describe how genomic analyses of coronary artery disease have been leveraged to create polygenic risk scores. We then discuss evaluations of the clinical utility of these scores, pertinent mechanistic insights gleaned, and practical considerations relevant to the implementation of polygenic risk scores in the health care setting.

引用

页码：1159 / 1177

页数：19

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