Genetic Risk Prediction of Atrial Fibrillation

Study Questions:

Can individuals at greatest risk of atrial fibrillation (AF) be identified by genetic screening?


Single nucleotide polymorphisms (SNPs) previously found to be associated with AF were used to develop genetic risk scores. Risk scores that incorporated various SNPs were tested prospectively in 18,919 individuals. The association between risk score and ischemic stroke also was evaluated in another 509 patients with ischemic stroke.


Incident AF occurred in 5.5% of individuals during a follow-up of 5 years. After correction for clinical risk factors, the genetic risk scores were associated with 28-67% increased risk of incident AF. A genetic risk score based on 127 SNPs was associated with a 2.5-fold higher risk of cardioembolic stroke.


Compared with established clinical predictors, genetic risk scores modestly improve the ability to identify individuals who will develop AF. Genetic risk scores identify patients at higher risk of cardioembolic stroke.


This study confirms that SNPs contribute to the pathogenesis of AF. However, the risk scores tested in this study only modestly improved the ability to identify individuals who will develop AF. The incremental value of the genetic risk score is not sufficient to justify its use in clinical practice. Whether the genetic risk score is better at identifying patients at highest risk of cardioembolic stroke requires further evaluation.

Keywords: Arrhythmias, Cardiac, Atrial Fibrillation, Biological Processes, Genetic Testing, Ischemia, Polymorphism, Single Nucleotide, Predictive Value of Tests, Risk Factors, Stroke

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