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Blizard Institute - Faculty of Medicine and Dentistry

Research to explore how ‘junk DNA’ influences risk of heart disease

Research funded by the British Heart Foundation (BHF) at Queen Mary University of London will explore how regions of our DNA that were previously thought to have no purpose could contribute to causing heart disease.


Inherited heart conditions are caused by a fault in one or more of our genes. If left undetected or treated, they may lead to heart failure or even sudden death from cardiac arrest. For many families, the first sign there is a problem is when someone dies suddenly, with no obvious cause or explanation.  

Previous genetic studies in humans have identified hundreds of small changes in the DNA sequence, known as common variants, which are associated to an increased risk of heart disease.

Some of these variants sit within the stretches of DNA sequence that carry the codes for our genes, but more than 90% occur outside of genes in regions of non-coding DNA. These were previously written off as ‘junk DNA’, as scientists believed they had no apparent function.

However, scientists are now coming to understand that non-coding DNA plays an important role in how our bodies work. Still, very little is known about how variants in this particular DNA can influence heart health.

Now Dr Diego Villar Lozano has been awarded a £470,000 Intermediate Basic Science Research Fellowship from the BHF, which will be used to carefully compare non-coding DNA between humans and other mammal species.

The three-year study will locate the key sequences which impact on heart genes, with the aim of identifying which are likely to contribute to heart disease.

Dr Villar from Queen Mary University of London said: “There has been great progress in research into inherited heart conditions, but this has mainly focussed on a small fraction of our DNA

“This new research will focus on variants in our non-coding DNA, which is an area that has remained functionally unexplored.

“Our study will help to identify DNA regions and variants contributing to heart disease risk and could have the potential to impact clinical management of this condition, through the development of personalised diagnostic tests or medical treatments.”

Dr Noel Faherty, Senior Research Advisor at the BHF, added: “This work will help to focus attention on less well-known segments of our DNA that are important for our heart health and could ultimately find ways to prevent heart disease in those at higher risk due to their DNA code.

“As the largest independent funder of cardiovascular research in the UK, our work has already uncovered many of the faulty genes that cause an inherited heart condition. But more still needs to be done and this research will allow us to further explore how non-coding DNA could influence the risk of heart disease.

“Funding for research like this has only been made possible by the fantastic generosity of the public. Their support means we can drive forward research programmes in our mission to beat heartbreak forever and ensure that we keep hearts beating and blood flowing.”

For more information or to request interviews, please call Lee Kettle from the BHF Media Team on 07741 908365 or email



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