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31/08/2010 - Press release

genetic risk indicator has been developed that is associated with the probability of ischaemic heart disease

Based on the results of a recently published study in Revista Española de Cardiología (REC) (the Spanish Journal of Cardiology)

Press release from the Spanish Society of Cardiology (SEC)

A study published in the latest edition of the Spanish Journal of Cardiology ("REC") - conducted by the Epidemiology and Cardiovascular Genetics Group of Barcelona's IMIM (Hospital del Mar Research Institute) together with members of CIBERESP (CIBER Epidemiology and Public Health), Pompeu Fabra University and the Neurology Service of Barcelona's Hospital del Mar - concludes that a genetic risk indicator based on nine genetic variants associated with coronary heart disease, independently of classic risk factors for this disease, has a linear and added association with the appearance of this disease. That is to say, the greater the number of these gene variants, the greater the risk of ischaemic heart disease. This information is complementary to cardiovascular risk factors, and therefore may provide additional information to classic risk functions and thus contribute to improved prediction of coronary risk.

Although the relevance of family history and the existence of genetic factors that determine the risk of ischaemic heart disease has been known for many years, it is in the last three years that genetic variants have been steadily identified that are individually associated with a higher probability of this disease. Some of these variants are also associated with the presence of the known cardiovascular risk factors, but others are not associated with these factors and suggest that other as yet unknown mechanisms exist that cause the disease.

This study looked at 1988 patients with ischaemic heart disease, 5380 healthy people and, of the 21 known genetic variants associated with ischaemic heart disease, nine were finally selected that are associated with this disease regardless of cardiovascular risk factors. The researchers created a genetic risk indicator for each individual based on the number of genetic risk variants (alleles) that he or she has and analysed how this indicator is associated with the probability of ischaemic heart disease presenting itself.

The results of this study indicate that there is a linear and direct association between this genetic risk indicator and the risk of the disease. According to Dr Elosua: "Genetic variants not associated with any classic cardiovascular risk factor are those that may enable the identification of new disease development mechanisms, new therapeutic targets and act as new biomarkers to help improve the ability to predict coronary risk and enable the reclassification of intermediate risk individuals, by providing additional information to that provided by classic risk factors such as smoking, cholesterol, diabetes or hypertension, among others."

Dr Elosua noted that "One of today's biggest challenges is to improve the tools available for calculating someone's risk of presenting ischaemic heart disease in the future and that one of the clinical uses for this genetic information could be to improve the calculation of the risk of ischaemic heart disease", adding that "the excess risk of suffering ischaemic heart disease associated with this genetic indicator is similar to the known risk from high blood pressure."

"From now on," said Dr Roberto Elosua, of IMIM's Epidemiology and Cardiovascular Genetics Group and one of the authors of the study and member of the Spanish Society of Cardiology (SEC), "we will require cohort studies that analyse whether this genetic indicator improves our ability to predict or reclassify classic risk functions used in daily clinical practice".

Ischaemic heart disease is a disease brought on by atherosclerosis of the coronary arteries that provide blood to the heart muscle (myocardium). Coronary atherosclerosis is the slow process of building up lipids (fats) and the inflammation of cells, eventually resulting in fibrosis and narrowing (stenosis) of the coronary arteries. One of the most feared events in coronary atherosclerosis is the formation of a blood clot that clogs the coronary arteries (acute coronary thrombosis). This is the cause of most acute myocardial infarctions and sudden death.

In Spain, ischaemic heart disease is the most prevalent cardiovascular disease. It is estimated that more than a million people suffer from chronic form of it. It is further estimated that around 770 people die as a result of a complication related to this pathology (heart attack, angina and sudden death).

A number of factors are involved in ischaemic heart disease - including genetic predisposition, which plays a particularly important role in young patients, and classic atherosclerosis risk factors such as smoking, diabetes, high blood pressure and dyslipidaemia as well as other emerging risk factors.

Spanish Society of Cardiology (SEC)

The Spanish Society of Cardiology (SEC) is a not-for-profit scientific and professional organisation dedicated to increasing understanding of the heart and circulation system, and advance the prevention and treatment of heart diseases while improving cardiac patients' survival rates and quality of life.

The SEC's main objectives include contributing to international research, especially in Europe and Latin America; creating national and international links for developing activities; and representing all professionals interested in the area of cardiology.

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