Abstract
Cardiovascular disease collectively accounts for a quarter of deaths worldwide. Genome-wide association studies across a range of cardiovascular traits and pathologies have highlighted the prevalence of common non-coding genetic variants within candidate loci. Here, we review genetic, epigenomic and molecular approaches to investigate the contribution of non-coding regulatory elements in cardiovascular biology. We then discuss recent insights on the emerging role of non-coding variation in predisposition to cardiovascular disease, with a focus on novel mechanistic examples from functional genomics studies. Lastly, we consider the clinical significance of these findings at present, and some of the current challenges facing the field.
Highlights
Human individuals differ from each other in millions of DNA sequence variants, some of which contribute to phenotypic differences in physiology and disease predisposition
The majority of human loci associated with cardiovascular traits and diseases are not in linkage disequilibrium (LD) with coding exons [4], a large fraction of genetic associations must reflect the effect of variation in gene regulation
Here we focus on the two major clinical types of primary cardiomyopathies: hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM)
Summary
Human individuals differ from each other in millions of DNA sequence variants, some of which contribute to phenotypic differences in physiology and disease predisposition. Facilitated by technological advances in sequencing technology, genome-wide association studies (GWAS) have analysed human genetic variation across individuals presenting a range of cardiovascular traits and diseases [1,2,3]. These comprise physiological parameters of cardiovascular function, such as heart rate or electrocardiogram measurements, and common pathologies such as cardiac arrhythmias and coronary artery disease (CAD). We will review recent evidence from genetic studies into the potential role of noncoding DNA elements in cardiovascular physiology and disease, with discussion of mechanistic insights from molecular approaches evaluating the effect of non-coding genetic variation on gene regulation and cellular phenotypes
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