Scientists discover more than 200 genetic factors causing heart arrhythmias

Hundreds of new links have been found between people’s DNA and the heart’s electrical activity, according to a study of almost 300,000 people led by researchers at Queen Mary University of London and the Broad Institute of MIT and Harvard.

The results could one day lead to advanced screening methods to discern who is at greatest risk of developing disease, and could help reveal new genetic targets for research and drug development.

Over the past 10 years, researchers have identified many genetic factors that contribute to–or protect against–the onset of specific heart diseases. However, it has been difficult to find genetic factors associated with arrhythmias – one of the most common forms of heart disease where the heart beats abnormally.

The team of scientists from more than 140 institutions looked at data from 293,051 people across the world, studying their individual genomes and their measurements on an electrocardiogram – one of the oldest and most widely used heart diagnostic tests.

The investigators specifically studied the length of time between two points on the electrocardiogram read-out known as the ‘PR interval’, which is associated with a number of common electrical disorders such as atrial fibrillation and other arrhythmias.

The findings, published in the journal

Nature Communications

, report 202 locations in the genome with links to this type of electrical activity in the heart–141 of which had not been previously identified. This more than triples the number of known genetic regions linked to this type of electrical activity and explains about 62 percent of its heritability.

Co-lead researcher Professor Patricia Munroe from Queen Mary’s William Harvey Research Institute said: “This is the largest global study of its kind to investigate the genetic basis of the PR interval – a well-established electrocardiogram risk marker for heart disease and mortality. The insights provide new knowledge on biological processes relating to the heart’s electrical activity and potential avenues of drug research for preventing and treating heart conditions.”

Steven Lubitz from Massachusetts General Hospital and the Broad Institute added: “That’s really a striking discovery that wouldn’t have been possible a few years ago. But thanks to many studies, including the UK Biobank, we now have all this imaging and electrocardiogram data paired with genetic data, which has proven to be a really powerful combination.”

The findings indicate that an individual’s inherited predisposition to heart disease is not the result of single-gene mutations, but rather a cumulative effect of many variants across the genome.

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The study was funded in part by the Medical Research Council, NIHR Barts Biomedical Research Centre, National Institutes of Health and the American Heart Association.

For more information, please contact:

Joel Winston

Communications Manager (School of Medicine and Dentistry)

Queen Mary University of London


[email protected]


Tel: +44 (0)7968 267 064

Notes to the editor

Research paper: Ntalla I et al. Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction.

Nature Communications

. DOI 10.1038/s41467-020-15706-x

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In 1785, Sir William Blizard established England’s first medical school, The London Hospital Medical College, to improve the health of east London’s inhabitants. Together with St Bartholomew’s Medical College, founded by John Abernethy in 1843 to help those living in the City of London, these two historic institutions are the bedrock of Barts and The London School of Medicine and Dentistry.
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This is just one of the many ways in which Queen Mary is continuing to push the boundaries of teaching, research and clinical practice, and helping us to achieve the previously unthinkable.

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