DOI: 10.18413/2658-6533-2023-9-2-0-1

Mendelian randomization: using genetic information in epidemiological studies (review)

Background: Mendelian randomization is a research method that exploits the instrumental variable framework using genetic information to assess the causality of the relationship between modifiable risk factors and health indicators (or socioeconomic traits). Over the past 5 years, according to Scopus, more than 4.6 thousand papers related to the use of Mendelian randomization have been published. The aim of the study: To study the statistical approaches used in the Mendelian randomization and evaluate the possibilities of using this method in genetic epidemiology. Materials and methods: The analysis of international scientific literature on the theory and practical application of Mendelian randomization in establishing and evaluating the causal effect of modifiable risk factors on outcomes was carried out. Results: This article provides a brief introduction to the theoretical foundations of Mendelian randomization, covering the main concepts, criteria, and evaluation methods. This paper provides an example of a study in which Mendelian randomization was used, it also describes the main areas of application of this method in epidemiology and the prospects for using the method in the future. Conclusion: The effect estimate obtained in Mendelian randomization is less prone to bias compared to one obtained in observational studies, since genetic variants are randomly assigned from parents to offspring and, as a result, should not be associated with potential confounding factors affecting the association of a risk factor with an outcome. Mendelian randomization allows one to assess and evaluate a causal relationship, and to determine causal risk factors for the development of a particular disease. A huge amount of genetic information is available in the genome-wide association studies era; that makes it easier to conduct the MR analysis.

Keywords: Mendelian randomization, epidemiology, causality, genetics.

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Plotnikov DY. Mendelian randomization: using genetic information in epidemiological studies (review). Research Results in Biomedicine. 2023;9(2):158-172. Russian. DOI:10.18413/2658-6533-2023-9-2-0-1

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