From Genome-Wide Association Studies to Cardiac Electrophysiology: Through the Maze of Biological Complexity

Koen T. Scholman, Veronique M.F. Meijborg, Carolina Gálvez-Montón, Elisabeth M. Lodder, Bastiaan J. Boukens*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

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.

Original languageEnglish
Article number557
JournalFrontiers in Physiology
Volume11
DOIs
Publication statusPublished - 27 May 2020
Externally publishedYes

Keywords

  • arrhythmias
  • cardiac electrophysiology
  • gene expression
  • genetics
  • GWAS

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