Genetic Variants Associated with the Development of Type 2 Diabetes: Approaches to Their Identification

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In the development of type 2 diabetes (T2D), an important role is played by a combination of environmental factors (hypodynamia, hypernutrition, etc.) and genetic variants that predispose the development of the disease. The contribution of inherited traits to the development of T2D can reach 80%, which is confirmed by the results of a number of published studies. At the same time, the multifactorial and polygenetic nature of T2D makes it difficult to establish direct cause-effect relations between individual genetic variants and specific metabolic changes. This explains a large number of studies and a long ongoing search for the most convenient and effective strategy for assessing the role of single nucleotide polymorphisms (SNP), the main type of genetic variation in the human genome. Involvement of specialists from various fields and the emergence of many methods for processing and interpreting data have led to the parallel development of scientific approaches. In this review of the main approaches (except mathematical ones) their characteristics will be described and the results obtained with their help will be evaluated, with special focus on new features of modern methods of genome editing, in particular the CRISPR/Cas9 system, and the future prospects in this area.

About the authors

Alexandra V. Stepanova

Lomonosov Moscow State University

ORCID iD: 0000-0002-5290-0874

MD, PhD-student

SPIN- cod: 3651-4770

Russian Federation

Konstantin Y. Kulebyakin

Lomonosov Moscow State University

Author for correspondence.
ORCID iD: 0000-0001-6954-5787
PhD, Faculty of Basic Medicine.

27-1, Lomonosovsky av., Moscow 119991

SPIN- cod: 7573-8527 Russian Federation

Tatyana N. Kochegura

Moscow State University Lomonosov M.V.

ORCID iD: 0000-0002-4869-4051

MD, PhD, Medical scientific and educational center

Russian Federation

Marina V. Shestakova

Endocrinology Research Centre

ORCID iD: 0000-0002-5057-127X

MD, Phd, Professor

SPIN-cod: 7584-7015


Russian Federation

Vsevolod A. Tkachuk

Lomonosov Moscow State University

ORCID iD: 0000-0002-7492-747X

Phd, Professor

SPIN-cod: 5515-4266


Russian Federation


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