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06/03/2011 - Press release

New leads on the genetic origin of coronary artery disease

An International study to be published online on the 6th March in the prestigious journal Nature Genetics identifies 13 new genetic characteristics associated with coronary artery disease

Coronary artery disease is the main cause of death in developed countries, causing 36,000 deaths in Spain in the year 2008 (9.3% of the total). Genetic factors are thought to explain about 40% of the risk of the population presenting with coronary artery disease. Therefore, a lot of effort is being put in to identifying the genetic characteristics associated with this disease, with 12 genetic characteristics associated with coronary artery disease being found in previous studies, some of which were discovered by this same research group.

Over 147,000 people have taken part in the CARDIoGRAM study. Initially, in the first group of 87,000 people (22,000 patients and 65,000 healthy people), 2,000,000 genetic characteristics were established and a significant group of characteristics was identified, which was re-analysed in the second phase in an additional group of 60,000 people (30,000 patients and 30,000 healthy people). According to Roberto Elosua, coordinator of the IMIM’s cardiovascular genetics and epidemiology research group and co-author of this study, “13 new areas of DNA associated with a higher probability of presenting with a myocardial infarction or angina pectoris have been identified, so we currently know 25 loci associated with this disease”.

Elosua states that “this study has enabled the number of known loci related to coronary artery disease to be doubled, even though the 25 known loci only explain 10% of the genetic factors related to the disease, so there are still loci to be identified.” Only 3 of the 13 new loci are related to classic cardiovascular risk factors, while the mechanism by which the other 10 loci increase the risk of presenting with coronary artery disease remains unknown. Therefore, additional studies will need to be performed to discover these new mechanisms.

There is a genetic characteristic in each of these loci which indicates excess cardiovascular risk and each person can have this genetic characteristic 0 times (not inherited from their parents), once (inherited from one of their parents) or twice (inherited from both parents). Every time one of these genetic risk characteristics is presented, the probability of presenting with coronary artery disease increases by between 6 and 17%. Even though the excess risk associated with each of the genetic characteristics identified is small, a set of genetic risk characteristics can triple the risk of presenting with coronary artery disease.

Studies are currently being carried out to assess whether or not the determining of these genetic characteristics could be useful as additional information in clinical practice for identifying people with a greater risk of presenting with coronary artery disease.

Reference Article

Large-scale association analyses identifies 13 new susceptibility loci for coronary artery disease”. Schunkert H. et al. Nature Genetics.

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