Annals of the Russian academy of medical sciencesAnnals of the Russian academy of medical sciencesВестник Российской академии медицинских наук0869-60472414-3545"Paediatrician" Publishers LLC103710.15690/vramn1037ENDOCRINOLOGY: CURRENT ISSUESАКТУАЛЬНЫЕ ВОПРОСЫ ЭНДОКРИНОЛОГИИGenetic Variants Associated with the Development of Type 2 Diabetes: Approaches to Their IdentificationОднонуклеотидные полиморфизмы в генетике сахарного диабета 2-го типа: подходы к их идентификацииhttps://orcid.org/0000-0002-5290-0874StepanovaAlexandra V.СтепановаАлександра Владимировна
Russian Federation

MD, PhD-student

SPIN- cod: 3651-4770

Аспирант кафедры биохимии и молекулярной медицины факультета фундаментальной медицины.

+79037777074

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a-stepforward@yandex.ruhttps://orcid.org/0000-0001-6954-5787KulebyakinKonstantin Y.КулебякинКонстантин Юрьевич
Russian Federation

PhD, Faculty of Basic Medicine.

27-1, Lomonosovsky av., Moscow 119991

SPIN- cod: 7573-8527

Кандидат биологических наук, ассистент кафедры биохимии и молекулярной медицины Факультета фундаментальной медицины.

Москва, 119991, Ломоносовский пр-т, д. 27, к. 1, телефон +9163697041

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konstantin-kuleb@mail.ruhttps://orcid.org/0000-0002-4869-4051KocheguraTatyana N.КочегураТатьяна Николаевна
Russian Federation

MD, PhD, Medical scientific and educational center

Доктор медицинских наук, старший научный сотрудник; отдел научных программ и инноваций, Медицинский научно-образовательный центр МГУ.

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t_kochegur@mail.ruhttps://orcid.org/0000-0002-5057-127XShestakovaMarina V.ШестаковаМарина Владимировна
Russian Federation

MD, Phd, Professor

SPIN-cod: 7584-7015

Доктор медицинских наук, профессор, академик РАН, директор Института диабета.

8(495)500-00-90

SPIN: 7584-7015

nephro@endocrincentr.ruhttps://orcid.org/0000-0002-7492-747XTkachukVsevolod A.ТкачукВсеволод Арсеньевич
Russian Federation

Phd, Professor

SPIN-cod: 5515-4266

Доктор биологических наук, профессор, академик РАН, заведующий кафедрой биохимии и молекулярной медицины Факультета фундаментальной медицины МГУ имени М.В. Ломоносова.

8(495) 932-8814

SPIN-код: 5515-4266

tkachuk@fbm.msu.ruLomonosov Moscow State UniversityМосковский государственный университет им. М.В. ЛомоносоваMoscow State University Lomonosov M.V.Московский государственный университет им. М.В. ЛомоносоваEndocrinology Research CentreФГБУ "Национальный медицинский исследовательский центр эндокринологии" Минздрава РФ0404201974144532809201811032019Copyright ©; 2019, "Paediatrician" Publishers LLCCopyright ©; 2019, Издательство "Педиатръ"2019"Paediatrician" Publishers LLCИздательство "Педиатръ"https://vestnikramn.spr-journal.ru/jour/about/submissionshttps://vestnikramn.spr-journal.ru/jour/article/view/1037

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.

В развитии сахарного диабета 2-го типа (СД2) важную роль играет комбинация факторов окружающей среды (гиподинамия, избыточное питание и т.д.) и генетических вариантов, обусловливающих предрасположенность к развитию заболевания. Вклад наследуемых признаков в развитие СД2 может достигать 80%, что подтверждается результатами целого ряда опубликованных исследований. В то же время мультифакторность и полигенность природы СД2 затрудняют установление прямых причинно-следственных связей между отдельными генетическими вариантами и конкретными метаболическими изменениями. Этим объясняются большое количество исследований и длительные поиски наиболее удобных и эффективных подходов к оценке роли одиночных нуклеотидных полиморфизмов (SNP), являющихся основным типом генетических вариаций в геноме человека. Привлечение специалистов из различных областей знаний и появление множества способов для обработки и интерпретации данных обусловили параллельное развитие различных научных подходов. В настоящем обзоре будут освещены основные из них (кроме математических), представлена характеристика этих подходов и дана оценка полученных с их помощью результатов. Особое внимание уделено новым возможностям и разработкам в рамках использования современных методов редактирования генома, в частности системы CRISPR/Cas9, и перспективам этого направления.single nucleotide polymorphismdiabetes mellitusgene editingCRISPR/Cas9однонуклеотидные полиморфизмыSNPсахарный диабетредактирование геномаCRISPR/Cas9Российский научный фонд, грант РНФ №14-35-00026Dedov II, Smirnova OM, Kononenko IV. Significance of the results of genome-wide association studies for primary prevention of type 2 diabetes mellitus and its complications. Personalised approach. Diabetes mellitus. 2014;17(2):10–19. (In Russ). doi: 10.14341/DM2014210-19.Kim S, Misra A. SNP genotyping: technologies and biomedical applications. 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