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Largest genetic study establishes hereditary links to atrial fibrillation

In This Article

  • Researchers identified 97 genetic loci shown to be significantly associated with Atrial fibrillation (AF), and which are implicated in cardiac developmental, electrophysiological, contractile and structural pathways
  • Existing therapies for AF aim to alleviate symptoms, but do not target the underlying disease
  • Cardiovascular genomics is an emerging area of research that shows promise for facilitating the development of novel treatments for AF

More than 33 million people globally live with atrial fibrillation (AF). Current treatments include applying electrical cardioversion, a shock therapy that allows the heart to return to its normal rhythm, or pharmacologic cardioversion therapy, in which physicians provide patients with blood thinners such as warfarin. While these therapies can mitigate symptoms, they do not treat the underlying heart disease or its cause.

A recent study led by researchers at Massachusetts General Hospital, the Broad Institute of MIT and Harvard, and Boston University School of Public Health identified 97 genetic loci that are significantly associated with AF. Reported in Nature, the genome-wide association studies (GWAS) study, which is the largest of its kind to date, investigated genetic risk factors for heart arrhythmia in over half a million individuals and use insights to explore therapies for patients with AF.

Patients with AF experience rapid and irregular heart rates, and are prone to blood clots in the heart’s left atrium. These occurrences put AF patients at an increased risk of stroke. According to Mass General Cardiologist Patrick Ellinor, MD, PhD, one of the lead investigators in the study, AF is characterized in particular by irregular beating in the upper chamber of the heart.

Dr. Ellinor and his collaborators studied the genetic data of more than 500,000 individuals—65,000 living with AF. Their analysis found different levels of gene expression between individuals with AF and those without, on almost 100 genetic loci. The team reported that those loci include genes central to cardiac developmental, electrophysiological, contractile and structural pathways.

Researchers hope that GWAS will both improve our understanding of the biological pathways underlying AF, and aid the development of novel therapeutics for the condition.

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Learn more about the Atrial Fibrillation Program


Atrial fibrillation (AF) and heart failure (HF) as individual cardiac conditions are associated with morbidity and mortality in epidemic proportions. With at least 3 million patients with AF and 5 million with HF in the United States, the clinical effect and the health economic burden cannot be underestimated.


Steve Lubitz, MD, MPH, discusses his team’s work focusing on understanding the mechanisms of atrial fibrillation through human genetics, and understanding how best to identify patients at risk for the arrhythmia.