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Review
. 2014 Jan 16:7:15-32.
doi: 10.2147/TACG.S35301. eCollection 2014.

Pathogenesis of coronary artery disease: focus on genetic risk factors and identification of genetic variants

Sergi Sayols-Baixeras  1 , Carla Lluís-Ganella  1 , Gavin Lucas  1 , Roberto Elosua  1
Affiliations
Review

Pathogenesis of coronary artery disease: focus on genetic risk factors and identification of genetic variants

Sergi Sayols-Baixeras et al. Appl Clin Genet. .

Abstract

Coronary artery disease (CAD) is the leading cause of death and disability worldwide, and its prevalence is expected to increase in the coming years. CAD events are caused by the interplay of genetic and environmental factors, the effects of which are mainly mediated through cardiovascular risk factors. The techniques used to study the genetic basis of these diseases have evolved from linkage studies to candidate gene studies and genome-wide association studies. Linkage studies have been able to identify genetic variants associated with monogenic diseases, whereas genome-wide association studies have been more successful in determining genetic variants associated with complex diseases. Currently, genome-wide association studies have identified approximately 40 loci that explain 6% of the heritability of CAD. The application of this knowledge to clinical practice is challenging, but can be achieved using various strategies, such as genetic variants to identify new therapeutic targets, personal genetic information to improve disease risk prediction, and pharmacogenomics. The main aim of this narrative review is to provide a general overview of our current understanding of the genetics of coronary artery disease and its potential clinical utility.

Keywords: coronary artery disease; genetic risk factors; genetic variants; pathogenesis.

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Figures

Figure 1
Figure 1
The top eleven diseases explain 37.7% of the global burden of disease measured as DALYs, with coronary artery disease as the leading cause of DALYs in 2010. Abbreviations: DALYs, disability-adjusted life years; AIDS, acquired immune deficiency syndrome; HIV, human immunodeficiency virus.
Figure 2
Figure 2
Genetic and environmental causes of development and progression of atherosclerosis act directly or through known intermediate traits. Abbreviation: LDL, low-density lipoprotein.
Figure 3
Figure 3
Number of articles published per year according to the genome-wide association studies catalog (accessed on September 27, 2013).
See this image and copyright information in PMC

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