Genetic link to fatal health condition could aid future treatment

Posted by ap507 at Nov 29, 2016 09:00 PM |
University of Leicester researchers lead study into abdominal aortic aneurysm

Issued by University of Leicester Press Office on 29 November

An image of Professor Matt Bown is available here:   

To arrange an interview with a patient who has been diagnosed with abdominal aortic aneurysm contact Fiona Bailey on or call 01604 882342

“Early detection is key to this condition which, if left untreated, can become a ticking time bomb for patients” – Professor Matt Bown, University of Leicester

Thousands of lives could be saved every year after it was discovered a fatal cardiovascular condition could be linked to four genes, research has found.

A 10-year project, led by a Leicester surgeon, looked at 10,000 people worldwide and found those who had suffered an abdominal aortic aneurysm (AAA) had four genes in common.

It is hoped that the findings could help doctors understand more about the condition, which can lead to fatal internal bleeding if left untreated.

Professor Matt Bown, a vascular surgeon from the University of Leicester and the NIHR Leicester Cardiovascular Biomedical Research Unit (BRU) and Honorary Consultant Vascular Surgeon, University Hospitals of Leicester NHS Trust, said: “Abdominal aortic aneurysm commonly affects the older population and can only be treated by surgery.

“Early detection is key to this condition which, if left untreated, can become a ticking time bomb for patients. Thousands of people die from burst AAAs each year yet about one in five men do not attend their free screening appointments so we can’t detect if there may be a problem.

“The discovery of the four genes, which is the culmination of more than a decade of a global research effort, could help us determine those at risk much earlier. If we are able to do this, then we could potentially save thousands of lives.”

The research, which has been published in the journal Circulation Research, was funded by the Wellcome Trust and the British Heart Foundation (BHF) and supported by the NIHR Leicester Cardiovascular BRU.

It also involved institutions from New Zealand, South Africa, Poland, Belgium, The Netherlands, Iceland, Australia, Denmark, Italy, Saudi Arabia, Estonia, Germany, Sweden and the USA.

As part of the study, researchers compared the genes of people with AAAs to those without.

A new research programme, funded by the British Heart Foundation, will now investigate whether the four common genes affect the speed at which the AAAs grow.

In order to continue with their work, they are asking for men who have been found to have an AAA by screening to provide blood samples.

In the UK men aged 65 or over are invited to attend a free aneurysm screening appointment.

Professor Jeremy Pearson, Associate Medical Director at the British Heart Foundation, which part-funded the genetic study and is funding Professor Bown’s current research programme, said: “The only available treatment for abdominal aortic aneurysms is surgery, which is expensive and can be risky. We desperately need to find new ways of treating aneurysms, but can only do so by learning more about how and why they grow.

“The discovery of four new genes associated with these aneurysms will enable us to explore their function, and could provide a potential target for treatments.

“Professor Bown will harness this discovery in his BHF-funded research aimed at improving the detection of people whose aneurysms are at greatest risk of a deadly rupture.”

The paper ‘Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm 1 Identifies Four New Disease-Specific Risk Loci’ published in the journal Circulation Research is available on request.

Notes to editors

  • For further details, to arrange an interview or more photographs, email or call 07803 003811 or 01604 882342.
  • More information:
  • The Leicester Cardiovascular Biomedical Research Unit at Glenfield Hospital aims to improve the diagnosis, prognosis and treatment of cardiovascular diseases. The unit provides state-of-the-art facilities and equipment to assist researchers in their complex projects. LCBRU is one of 20 BRUs in England funded by the NIHR. LCBRU is a partnership between the University of Leicester and University Hospitals of Leicester NHS Trust. The Unit's director is Professor Sir Nilesh Samani and the manager is Dr Martin Batty.
  • The National Institute for Health Research (NIHR) is funded by the Department of Health to improve the health and wealth of the nation through research. The NIHR is the research arm of the NHS. Since its establishment in April 2006, the NIHR has transformed research in the NHS. It has increased the volume of applied health research for the benefit of patients and the public, driven faster translation of basic science discoveries into tangible benefits for patients and the economy, and developed and supported the people who conduct and contribute to applied health research. The NIHR plays a key role in the Government’s strategy for economic growth, attracting investment by the life-sciences industries through its world-class infrastructure for health research. Together, the NIHR people, programmes, centres of excellence and systems represent the most integrated health research system in the world. For further information, visit the NIHR website ( centres of excellence and systems represent the most integrated health research system in the world. For further information, visit
  • The University of Leicester is led by discovery and innovation. Find out more: Follow on Twitter @uniofleicester and @UoLNewsCentre

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