GENOME-WIDE ASSOCIATION STUDIES OF CARDIOVASCULAR DISEASE

被引：46

作者：

Walsh, Roddy ^{[1
]}

Jurgens, Sean J. ^{[1
,2
]}

Erdmann, Jeanette ^{[3
,4
]}

Bezzina, Connie R. ^{[1
]}

机构：

[1] Univ Amsterdam, Med Ctr, Heart Ctr, Dept Expt Cardiol,Amsterdam Cardiovasc Sci, Amsterdam, Netherlands

[2] Broad Inst MIT & Harvard, Cardiovasc Dis Initiat, Cambridge, MA USA

[3] Univ Lubeck, Inst Cardiogenet, DZHK German Res Ctr Cardiovasc Res, Partner Site Hamburg, Kiel, Germany

[4] Univ Heart Ctr Lubeck, Lubeck, Germany

来源：

PHYSIOLOGICAL REVIEWS | 2023年 / 103卷 / 03期

关键词：

cardiovascular disease; genetics; GWAS; polygenic risk score; CORONARY-ARTERY-DISEASE; HYPERTROPHIC CARDIOMYOPATHY; COMMON DISEASES; HEART-DISEASE; GENETIC RISK; VARIANTS; SUSCEPTIBILITY; PREDICTION; DIVERSITY; PATHWAYS;

D O I：

10.1152/physrev.00024.2022

中图分类号：

Q4 [生理学];

学科分类号：

071003 ;

摘要：

Genome-wide association studies (GWAS) aim to identify common genetic variants that are associated with traits and diseases. Since 2005, more than 5,000 GWAS have been published for almost as many traits. These stud-ies have offered insights into the loci and genes underlying phenotypic traits, have highlighted genetic correla-tions across traits and diseases, and are beginning to demonstrate clinical utility by identifying individuals at increased risk for common diseases. GWAS have been widely utilized across cardiovascular diseases and asso-ciated phenotypic traits, with insights facilitated by multicenter registry studies and large biobank data sets. In this review, we describe how GWAS have informed the genetic architecture of cardiovascular diseases and the insights they have provided into disease pathophysiology, using archetypal conditions for both common and rare diseases. We also describe how biobank data sets can complement disease-specific studies, particularly for rarer cardiovascular diseases, and how findings from GWAS have the potential to impact on clinical care. Finally, we discuss the outstanding challenges facing research in this field and how they can be addressed.

引用

页码：2039 / 2055

页数：18

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