Key result
Genome-wide association studies have identified numerous genetic loci associated with cardiac electrophysiology and arrhythmias, though determining their mechanistic relevance requires integrating chromatin, cellular, and tissue-level functional studies.
Why the study?
The clinical relevance of GWAS loci for cardiac electrophysiology remains unclear because they do not provide mechanistic explanations, which are needed to aid risk stratification models for arrhythmias.
Understanding the arrhythmogenic mechanisms of GWAS-derived genetic variants can guide the interpretation of data and aid in the development of risk stratification models for patients with arrhythmias.
Genome Wide Association Studies (GWAS) have provided an enormous amount of data on genomic loci associated with cardiac electrophysiology and arrhythmias. Clinical relevance, however, remains unclear since GWAS do not provide a mechanistic explanation for this association. Determining the electrophysiological relevance of variants for arrhythmias would aid development of risk stratification models for patients with arrhythmias. In this review, we give an overview of genetic variants related to ECG intervals and arrhythmogenic pathologies and discuss how these variants may influence cardiac electrophysiology and the occurrence of arrhythmias.
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Scholman et al. (2020) conducted a review in Cardiac electrophysiology and arrhythmias. Genome-wide association studies have identified numerous genetic loci associated with cardiac electrophysiology and arrhythmias, though determining their mechanistic relevance requires integrating chromatin, cellular, and tissue-level functional studies.
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