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The contribution of non-coding regulatory elements to cardiovascular disease.


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.

SUBMITTER: Villar D 

PROVIDER: S-EPMC7574544 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature

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The contribution of non-coding regulatory elements to cardiovascular disease.

Villar Diego D   Frost Stephanie S   Deloukas Panos P   Tinker Andrew A  

Open biology 20200701 7


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 predi  ...[more]

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