Molecular Genetics of Atrial Fibrillation

Chia Ti Tsai, Ling Ping Lai, Juey Jen Hwang, Jiunn Lee Lin, Fu Tien Chiang

Research output: Contribution to journalReview article

79 Citations (Scopus)

Abstract

Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia. There is genetic predisposition for the development of AF. Recently, by linkage analysis, several loci have been mapped for monogenetic AF, including 11p15.5, 21q22, 17q, 7q35-36, 5p13, 6q14-16, and 10q22. Some of these loci encode for subunits of potassium channels (KCNQ1, KCNE2, KCNJ2, and KCNH2 genes), and the remaining are yet unidentified. All of the known mutations are associated with a gain of function of repolarization potassium currents, resulting in a shortening of action potential duration and atrial refractory period, which facilitate multiple re-entrant circuits in AF. In addition to familial AF, common AF often occurs in association with acquired diseases such as hypertension, valvular heart disease, and heart failure. By genetic association study, some genetic variants or polymorphisms related to the mechanism of AF have been found to be associated with common AF, including genes encoding for subunits of potassium or sodium channels, sarcolipin gene, renin-angiotensin system gene, connexin-40 gene, endothelial nitric oxide synthase gene, and interleukin-10 gene. These observations suggest that genes related to ionic channels, calcium handling protein, fibrosis, conduction and inflammation play important roles in the pathogenesis of common AF. The complete elucidation of genetic loci for common AF is still in its infancy. However, the availability of genomewide scans with hundreds or thousands of polymorphisms has made it possible. However, challenges and pitfalls exist in association studies, and consideration of particular features of study design is necessary before making definite conclusions from these studies.

Original languageEnglish
Pages (from-to)241-250
Number of pages10
JournalJournal of the American College of Cardiology
Volume52
Issue number4
DOIs
Publication statusPublished - Jul 22 2008
Externally publishedYes

Keywords

  • atrial fibrillation
  • familial
  • genetics
  • multifactorial

ASJC Scopus subject areas

  • Nursing(all)

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