IMIM - Institut Hospital del Mar d'Investigacions Mèdiques


07/09/2015 - Press release

New clues on the genetic basis of myocardial infarction

This is the first study that has systematically analysed 2.7 million rare genetic characteristics

The CARDIoGRAMplusC4D Consortium, an international project in which researchers from the IMIM (Hospital del Mar Medial Research Institute) participated as the only Spanish participants, has identified 58 DNA loci or regions, 10 of which are new, linked to the risk of experiencing an ischemic heart disease. These 58 loci, besides confirming the relevance of controlling cholesterol levels and inflammation, identify in a novel way the relevance of the functioning of the arterial wall in the origin of this disease. The study is published in the prestigious journal Nature Genetics and is the first to have systematically analysed 2.7 million rare genetic characteristics.

Ischemic heart disease is the leading cause of death in industrialised countries and can appear as an angina pectoris, a myocardial infarction and, sometimes, as sudden death. It is known that genetic factors account for 40 to 50% of the risk of suffering the disease, and this explains why great efforts are being invested to identify the genetic characteristics associated to this pathology, after 48 genetic characteristics have been identified in previous studies, some of which by this same research group.

With the project CARDIoGRAMplusC4D Consortium 9.4 million genetic characteristics have been analysed, 6.7 of which are called frequent, meaning they are found in over 5% of the population, and 2.7 million rare ones, which are found in less than 5% of the population. These genetic characteristics have been analysed in 61,000 people with an ischemic heart disease and in 123,504 people without ischemic heart disease. The study has allowed identifying a group of genetic characteristics that are grouped in 58 loci, 10 of which are new. These characteristics account for around 13% of the disease’s genetic base.

According to Roberto Elosua, coordinator of the IMIM research group on cardiovascular epidemiology and genetics and the co-author of the study, “this is the first study that has systematically analysed 2.7 million rare genetic characteristics and we have seen that those characteristics account for a small proportion of the genetic basis of ischemic heart disease, around 2%.” The 48 genetic characteristics identified in previous studies were frequent and the risk of suffering an ischemic heart disease was low. Researchers believed that rare variations would be discovered and that these would greatly increase the risk of having the disease, but the results show that the genetic basis of ischemic heart disease is fundamentally explained by frequent variations with an increase in small risks.

The study has identified 10 new loci associated to ischemic heart disease, most of them being linked to genes that regulate the functionality of the arterial wall, fundamentally its ability to relax. “This discovery opens the door to research on new therapeutic targets to prevent the disease. Current therapies are based on controlling lipids, arterial pressure, glycaemia and avoiding the consumption of tobacco” Elosua adds.

Finally, the study has allowed analysing if there are differences in the genetic basis of the different ways in which ischemic heart disease appears, i.e., are genes relating to angina pectoris the same as the ones relating to myocardial infarction? “Results indicate that most of the genes are similar, although there are some differences in some genes that may indicate different mechanisms through which the disease progresses to more severe forms, myocardial infarction, or less severe, such as angina pectoris. These genetic differences may also indicate some mechanisms to regulate the progression of the disease to less severe forms,” Elosua concludes.

Article of reference

“A comprehensive 1000 Genomes-based genome-wide association meta-analysis of coronary artery disease”. Nikpay M et al. CARDIoGRAMplusC4D Consortium. Nature Genetics.

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