Genetic discoveries offer hope of advances in heart treatment

Landmark genetic discoveries announced today could usher in a new era of heart disease research and treatment, scientists believe.

At least 17 previously unknown genetic variants have been identified that increase the risk of narrowed arteries and blood clots, the main cause of heart attacks and strokes.

The findings double the known genetic causes of heart disease.

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Researchers hope they will lead to better ways of identifying those most at risk, and completely new approaches to treating heart disease by targeting specific genes and molecules.

Previous studies have shown that up to 40 per cent of heart disease cases can be prevented by lifestyle measures such as taking exercise, improving diet and giving up smoking.

But around 50 per cent of the risk of heart disease is thought to be due to genetic factors people are born with.

Heart and artery disease is the world’s biggest killer, causing around 12 per cent of all deaths worldwide.

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Coronary heart disease claims more than 90,000 lives each year in the UK. Although the numbers have fallen rapidly since the late 1970s, Britain still has one of the highest heart disease death rates in western Europe.

Results from three new studies on the genetic links to coronary artery disease (CAD) are published today in the journal Nature Genetics.

Scientists around the world collected data on many thousands of DNA samples to find genetic variants associated with disease in arteries supplying blood to the heart.

Arteries harden and become narrow when a process involving inflammation and cholesterol – atherosclerosis – causes deposits, or plaques, to build up on their inner walls.

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Not only do the plaques impede the passage of blood, but they can rupture leading to blood clots that block blood vessels.

When the heart muscle is starved of blood because of a blocked artery, a heart attack may occur.

For the largest of the new studies, known as CARDIoGRAM, scientists pooled information on more than 140,000 people, including more than 50,000 with CAD. They identified 13 new genetic “loci” – regions of DNA containing genes – linked to the disease.

Only three of the gene regions appeared to involve traditional heart disease risk factors such as high cholesterol and blood pressure, diabetes, smoking and obesity.

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Five genetic risk factors were pinpointed by a similar study called C4D conducted by the Coronary Artery Disease Genetics Consortium which looked at data from more than 70,000 DNA samples.

The third study, led by researchers in China, focused on more than 7,000 individuals of Han Chinese ancestry and identified one CAD-linked variant.

Both CARDIoGRAM and C4D were partly funded by the British Heart Foundation (BHF).

Prof Nilesh Samani from the University of Leicester, who co-led CARDIoGRAM, said: “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.”

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British colleague Prof Hugh Watkins, from Oxford University, a leading member of the C4D research team, 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.

“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.”