Genetic Variants Associated with the Development of Type 2 Diabetes: Approaches to Their Identification
| Autor: | Marina Vladimirovna Shestakova, T. N. Kochegura, Alexandra V. Stepanova, Vsevolod A. Tkachuk, Konstantin Y. Kulebyakin |
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| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Cas9 030209 endocrinology & metabolism Single-nucleotide polymorphism General Medicine Disease Computational biology Biology 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Genome editing Genetic variation CRISPR Identification (biology) Human genome |
| Zdroj: | Annals of the Russian academy of medical sciences. 74:44-53 |
| ISSN: | 2414-3545 0869-6047 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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