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Genomics of Complex Cardiovascular Disease 

Genomics of Complex Cardiovascular Disease
Genomics of Complex Cardiovascular Disease

Foram N. Ashar

and Dan E. Arking

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date: 30 October 2020

The genomics revolution, including the complete sequence of the human genome, has greatly advanced our understanding of the molecular basis of Mendelian disease, which is largely the result of necessary and sufficient mutations that are individually rare. As fruitful as genome-targeted efforts have been in the field of single-gene disorders, progress in understanding the genetic architecture of complex traits has been slower and more tenuous. These traits are governed by the interplay between genes, epigenetic factors, and the environment. Under this scenario, complex traits are likely modulated by multiple genes (and possible multiple genetic variants within a gene), which are individually neither necessary nor sufficient. In cardiovascular genetics, this was further complicated by the multitude of different outcomes assessed, often using slightly different definitions of the phenotype in question. Genetic studies of cardiovascular disease (CVD) in particular, are largely dichotomized into studies of genes that influence CVD risk factors, such as lipids and blood pressure, and studies that focus on clinical outcomes. This chapter summarizes the progress made in the search for genes affecting cardiovascular disease risk both by candidate gene studies and genome-wide association studies (GWAS), while focusing on three specific CVD events (myocardial infarction, stroke, and sudden cardiac death), with the idea that genetic variants that directly impact clinical outcomes would not necessarily be identified only through studies of CVD risk factors, and often require a direct interrogation of the clinical outcome of interest allowing for more accurate risk stratification, particularly for catastrophic events like sudden cardiac death.

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