Abstract
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.
Highlights
Genome Wide Association Studies (GWAS) can identify genetic variants associated with phenotypic traits, such as electrocardiographic (ECG) intervals (Table 1)
Associations between the genetic loci of Hyperpolarization-Activated Cyclic Nucleotidegated channel 4 (HCN4) and PLN and heart rate found by GWAS is most likely mediated through variants impacting on the expression and or function of these genes (Eijgelsheim et al, 2010; den Hoed et al, 2013; Nolte et al, 2017)
Nav 1.8 – associate with QRS duration as well (Sotoodehnia et al, 2010). These variants are located within an enhancer region that modulates expression of SCN5A which could explain a relation with QRS duration (Sotoodehnia et al, 2010; van den Boogaard et al, 2014)
Summary
Specialty section: This article was submitted to Cardiac Electrophysiology, a section of the journal
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