New research doubles known genetic causes of coronary heart disease

Discoveries could lead to new treatments

Issued by British Heart Foundation on 06 March 2011

Researchers in two huge international studies have discovered 17 new genetic variants linked with increased heart disease risk. The research gives hope of developing treatments for coronary heart disease (CHD) and strokes. CHD kills around 88,000 people in the UK every year (1).

Both studies were co-funded by the British Heart Foundation (BHF). The research more than doubles the known firm genetic links to CHD.

The studies – one from the CARDIoGRAM consortium and one from The Coronary Artery Disease (C4D) Genetics Consortium – used masses of data to find patterns in the genetic code of tens of thousands of people. They found variations in DNA that are more likely to be found in people with coronary heart disease.

Some genes were associated with pathways known to be involved in the development of CHD. But the researchers also identified many genetic variants not previously known to be involved in the development of the disease. 

The CARDIoGRAM research involved in-depth analyses of the DNA of more than 140,000 people, more than 50,000 of whom had CHD. The C4D scientists looked at the DNA of more than 70,000 people, more than 35,000 of whom had CHD.

BHF Professor Nilesh Samani of the University of Leicester, who co-led the CARDIoGRAM research, said:

“The most exciting thing about our study – the largest ever of its type – is that we have discovered several new genes not previously known to be involved in the development of coronary heart disease.

“Understanding how these genes work, which is the next step, will vastly improve our knowledge of how the disease develops, and could ultimately help to develop new treatments.”

BHF Professor Hugh Watkins of the University of Oxford, who co-led the C4D research, said:

“Our research strengthens the argument that lots of genes have a small effect on your heart disease risk, rather than a few genes having a large effect. Knowing about them will be important for directing research to find new treatments.

“We also show that our five new genetic culprits are found equally in European and South Asian populations, indicating that large international studies may be the best way forward in the hunt for the genetic causes of heart disease.”

Professor Peter Weissberg, Medical Director at the BHF, said:

“As more and more large scale genetic studies are carried out we are beginning to identify genetic variants that may play a significant, though small, role in the development of heart disease. These studies add 17 to the existing list. Some are plausibly associated with the development of atherosclerosis – the cause of heart attacks and strokes.

“Each new gene identified brings us a small step closer to understanding the biological mechanisms of cardiovascular disease development and potential new treatments.

“However, as the number of genes grows, it takes us further away from the likelihood that a simple genetic test will identify those most of risk of suffering a heart attack or a stroke.”

Both studies were published in Nature Genetics. The CARDIoGRAM consortium includes BHF Professors at the Universities of Leicester and Leeds, and colleagues in countries including Germany, the USA and Canada, the Netherlands and Iceland. The C4D Consortium is a collaboration between international research centres in countries including the UK, Pakistan and Sweden, co-led by scientists at the BHF Centres of Research Excellence at the Universities of Oxford and Imperial College London, and the University of Cambridge.

Both studies were funded by several leading research institutions including the BHF, the Wellcome Trust, the UK Medical Research Council, the National Institute for Health Research, and the European Union. (2)

Researchers from the two groups now plan to work together. They have already found evidence to suggest that their combined data will find more genetic links to heart disease.

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Notes to editors

1. Scarborough P et al (2010). Coronary heart disease statistics 2010 edition. British Heart Foundation: London.

2. Research published in Nature Genetics online 06/03/11: ‘A genome-wide association study in Europeans and South Asians identifies five novel loci for coronary artery disease’ and ‘Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease’.

3. Professor Hugh Watkins (University of Oxford) and Professor Nilesh Samani (University of Leicester) are available for interview.

4. Professor Peter Weissberg, Medical Director at the British Heart Foundation, is available for interview.

5. Another study from China, also published in Nature Genetics, found an additional genetic variant associated with CHD in the Chinese Han population.

The British Heart Foundation (BHF) is the nation’s heart charity, dedicated to saving lives through pioneering research, patient care, campaigning for change and by providing vital information. But we urgently need help. We rely on donations of time and money to continue our life-saving work. Because together we can beat heart disease.

For almost 100 years the Medical Research Council has improved the health of people in the UK and around the world by supporting the highest quality science. The MRC invests in world-class scientists. It has produced 29 Nobel Prize winners and sustains a flourishing environment for internationally recognised research. The MRC focuses on making an impact and provides the financial muscle and scientific expertise behind medical breakthroughs, including one of the first antibiotics penicillin, the structure of DNA and the lethal link between smoking and cancer. Today MRC funded scientists tackle research into the major health challenges of the 21st century.

The Wellcome Trust is a global charitable foundation dedicated to achieving extraordinary improvements in human and animal health. It supports the brightest minds in biomedical research and the medical humanities. The Trust's breadth of support includes public engagement, education and the application of research to improve health. It is independent of both political and commercial interests.

The National Institute for Health Research (NIHR) provides the framework through which the research staff and research infrastructure of the NHS in England is positioned, maintained and managed as a national research facility. The NIHR provides the NHS with the support and infrastructure it needs to conduct first-class research funded by the Government and its partners alongside high-quality patient care, education and training. Its aim is to support outstanding individuals (both leaders and collaborators), working in world-class facilities (both NHS and university), conducting leading-edge research focused on the needs of patients.

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