Cardiovascular diseases still occupy
leading position on the adverse impact on life expectancy and mortality in the world. First of all, we are talking about myocardial infarction.

Modern medicine knows many risk factors for the development of this and other cardiovascular diseases. These factors are divided into conventional (smoking, arterial hypertension, dyslipidemia, diabetes mellitus, abdominal obesity) and unconventional, including psychosocial risk factors (stress, anxiety and depression, income level, marital status, family conflicts).

In addition, individual risk for adverse cardiovascular prognosis is also influenced by genetic factors. Russian and international guidelines already suggest that family history information should be considered when determining measures to prevent myocardial infarction.

Scientists develop risk assessment tools for myocardial infarction

For more accurate collection and analysis of information about hereditary predisposition to the development of cardiovascular diseases, risk meters (special tests) are being developed to assess the contribution of genetic factors.

  • For the first time the method of calculating the genetic risk scale was described back in 2005, the study showed that taking into account genetic risk can improve the ability to predict disease compared to the scale based only on traditional risk factors, – said a leading researcher of FIC ICG SB RAS, candidate of medical sciences Elena Shakhtshneider.

Today, there are different versions of genetic risk scales that take into account different numbers of polymorphisms (mutations in DNA): while the first study was only about three points in the genes, the latest studies have counted in the millions. However, according to meta-analysis data, only a few of them (mostly related to low-density lipoprotein cholesterol metabolism) were able to establish a reliable association with the risk of myocardial infarction.

The complexity of this work is also due to the population specificity of the prevalence of cardiovascular diseases, peculiarities of climatic and social living conditions. As a result, different countries and macroregions require their own specific risk factors. Different scientific organizations are working on the study of risk factors for myocardial infarction, taking into account genetic risk factors. Scientists from the Research Institute of Therapy and Preventive Medicine (a branch of the Research Center for Cardiovascular Surgery of the Siberian Branch of the Russian Academy of Sciences) are among the leaders in the development of this field in our country.

  • To develop a genetic risk scale for Russian residents we analyzed the data used in the articles from 2005 to 2020 and revealed 43 polymorphisms, most frequently associated with heart diseases, – Elena Shakhtshneider noted.

It is these changes that are found in genes associated with cardiovascular disease, coronary heart disease, myocardial infarction, genes related to lipid metabolism, immune response, and angiogenesis.

The Novosibirsk scientists have entered the final phase of their research, which will be followed by the procedure of obtaining a patent and transferring the ready-made riskmeter to medical institutions for inclusion in daily work.

As practice shows, the use of risk meters with a genetic scale noticeably increases the level of their prognostic ability. Early diagnosis can improve the quality and life expectancy of patients and reduce the economic costs of treating cardiovascular diseases. It also makes it possible to prescribe the necessary preventive measures, such as lipid-lowering drugs, a proper diet and adequate exercise, in a timely manner.

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