Genetic Architecture of Quantitative Cardiovascular Traits: Blood Pressure, ECG and Imaging Phenotypes

Background: We provide an overview of the genetic architecture of quantitative cardiovascular phenotypes such as blood pressure (BP), electrocardiogram (ECG) and cardiac imaging measurements which play a critical and prognostic role in the management of numerous diseases. Methods: The genetics of BP, ECG and cardiac imaging traits have been studied in large-scale genome-wide association studies (GWASs). Results: To-date more than 1,400 BP loci have been discovered. These genetic loci harbouring known and novel BP-regulating genes, several of which are linked to existing drugs, that can be repurposed for BP treatment. Regarding the ECG indices, 437 independent signals have been reported for resting heart rate (n ~ 400,000), mainly modulating the autonomic nervous system, as well as 202 loci for PR interval, 29 loci for QRS duration and 35 loci for QT interval. The LV GWASs (n ~ 17,000) identified 14 loci harbouring genes regulating the cardiac developmental pathways. Conclusion: Large-scale genetic analyses of quantitative cardiovascular traits have yielded hundreds of susceptibility loci, candidate genes and key biological pathways, which significantly advance our understanding of their genetic architecture and shed lights on potential novel therapeutic targets.