Open Biology (Jul 2020)

The contribution of non-coding regulatory elements to cardiovascular disease

  • Diego Villar,
  • Stephanie Frost,
  • Panos Deloukas,
  • Andrew Tinker

DOI
https://doi.org/10.1098/rsob.200088
Journal volume & issue
Vol. 10, no. 7

Abstract

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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.

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