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Review
. 2012 Dec;23(12):1400-6.
doi: 10.1111/j.1540-8167.2012.02445.x. Epub 2012 Oct 15.

New advances in the genetic basis of atrial fibrillation

Saagar Mahida  1 , Patrick T Ellinor
Affiliations
Review

New advances in the genetic basis of atrial fibrillation

Saagar Mahida et al. J Cardiovasc Electrophysiol. 2012 Dec.

Abstract

Over the past decade, compelling evidence has emerged from population-based studies to suggest that AF is a heritable disease. More recently, we have begun to elucidate the genetic substrate underlying AF. Genome-wide association studies (GWAS) have led to the identification of multiple risk loci that confer increased susceptibility to the arrhythmia. These loci harbor intriguing candidate genes including those encoding ion channels, transcription factors, and signaling molecules. Current efforts are ongoing to functionally validate the role of these genes in disease pathogenesis. In the future, novel genotyping technologies such as exome sequencing and whole-genome sequencing promise to uncover a greater proportion of the heritability underlying AF. In this article we review recent advances in AF genetics research and discuss future developments in the field.

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Figures

Figure 1
Figure 1
Manhattan plot demonstrating association AF and risk loci identified by GWAS. The physical position of SNPs on each chromosome are depicted on the x axis while the −log10(P value) for each SNP is plotted on the y axis. The dashed line indicates the threshold for genome wide significance (P <5×10−8). The nine loci that exceed the genome wide threshold are indicated in orange. Reprinted by permission from Macmillan Publishers Ltd: Nature Genetics, 2012 Apr 29;44(6):670-5.
Figure 2
Figure 2
Representative illustration of a cardiomyocyte demonstrating protein products of genes implicated in GWAS and the mechanisms of action of these proteins. The arrows indicate hypothetical interactions between the protein products.
See this image and copyright information in PMC

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