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

Alexandra V. Stepanova, Konstantin Y. Kulebyakin, Tatyana N. Kochegura, Marina V. Shestakova, Vsevolod A. Tkachuk
2019 Rossiiskaya Akademiya Meditsinskikh Nauk. Vestnik  
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
more » ... en 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.
doi:10.15690/vramn1037 fatcat:expejcoemvbmheugxze5phbhoi