Genetic Riskometer
Scientists develop tools for assessing the risk of myocardial infarction
Press Service of FITZ ICIG SB RAS
Cardiovascular diseases still occupy a leading position in terms of adverse effects on life expectancy and mortality in the Russian Federation. And 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, hypertension, dyslipidemia, diabetes mellitus, abdominal obesity) and non-conventional, including psychosocial risk factors (stress, anxiety and depression, income level, marital status, conflicts in the family).
In addition, genetic factors also affect the individual risk of developing an unfavorable cardiovascular prognosis. Russian and international recommendations already speak of the need to take into account information about family history when determining measures for the prevention of 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 the disease in comparison with a scale based only on traditional risk factors, – said Elena Shakhtschneider, a leading researcher at FITZ ICiG SB RAS, PhD.
Today, there are different versions of genetic risk scales that take into account different numbers of polymorphisms (mutations in DNA): if in the first study it was only about three points in the genes, then in recent studies the score is already in the millions. However, according to meta-analysis, a reliable association with the risk of myocardial infarction could be established only in a few of them (mainly related to the metabolism of low-density lipoprotein cholesterol).
The complexity of this work is also due to the population specificity of the spread of cardiovascular diseases, the peculiarities of climatic and social living conditions. As a result, different countries and macro-regions require their own specific risk meters. Various scientific organizations are working on the study of risk factors for myocardial infarction, taking into account genetic risk factors. Scientists of the Research Institute of Therapy and Preventive Medicine (a branch of the FIT ICiG SB RAS) are among the leaders in the development of this direction in our country.
– In order to develop a scale of genetic risk for residents of Russia, we analyzed the data used in articles from 2005 to 2020. and 43 polymorphisms have been identified, most often associated with heart diseases, – said Elena Shakhtschneider.
These changes are found in genes associated with cardiovascular diseases, coronary heart disease, myocardial infarction, genes associated with lipid metabolism, immune response, angiogenesis.
The research of Novosibirsk residents has entered the final phase, then there will be a procedure for obtaining a patent and transferring a ready-made riskometer to medical institutions for inclusion in daily work.
As practice shows, the use of risk meters with a genetic scale significantly increases the level of their predictive ability. Early diagnosis can help improve the quality and life expectancy of patients and reduce the economic costs of treating cardiovascular diseases. And it also allows you to prescribe the necessary preventive measures to a person in a timely manner – therapy with lipid-lowering drugs, proper nutrition and adequate physical activity.
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