A study published in the New England Journal of Medicine last week reported the discovery of six single letter gene changes - so-called genetic variants - linked to significantly increased risk of heart disease: the UK's biggest killer. The study - part of the multimillion pound Welcome Trust Case Control Consortium - may lead to a test for predicting those at risk from heart disease, who may benefit from a heart healthy lifestyle.
'We are not talking about rare genetic variants here, but rather variants that are very common in your population', says lead author Professor Nilesh Samani, British Heart Foundation Chair of Cardiology at the University of Leicester, UK. 'Many of these genetic variants are carried by between one-quarter and three-quarters of white Europeans', he adds.
With a few exceptions, humans inherit two copies of each gene, one from either parent. The researchers predict that carrying a single copy of any one of the newly identified variants raises the risk of heart disease by 20 per cent, with double that risk if two copies are carried.
Alistair Hall, professor of clinical cardiology at the University of Leeds is optimistic about the clinical applications of these findings: 'I think within a year or two we will be using testing to identify people with higher risk of heart disease, alongside tests for high blood pressure and cholesterol, starting with those with a family history', he said speaking to the Daily Telegraph.
The researchers scanned the entire genome of 2000 people with heart disease and 3000 healthy people. They compared the two groups to identify which gene variants were present more often in those with heart disease than those without - a total of nine. Next they double checked their results by comparing them with those of a similar German study. This left them with a total of six variants, which were strongly linked to heart disease in both studies.
Scientists have known for years that common diseases, like heart disease, result from complex interplay between genes, environment and lifestyle. 'This is an exciting step forward', says Dr Mark Walport, Director of the UK's Wellcome Trust, who has announced a further £7.7 million funding for the study. 'We now need to understand how these common gene variants cause increased risk of heart disease', he says.