problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl201258414-17problendo-4671Research ArticleСтатьиArticlesАссоциация полиморфного маркера G6230А гена СTLA4 с сахарным диабетом 1-го типа у больных русского происхожденияAssociation of the polymorphous marker G6230A of the CTLA4 gene with type 1 diabetes mellitus in the patients of Russian descentKopylovaO I-KuraevaT L-LavrikovaE Iu-TitovichE V-NikitinA G-SmirnovaG E-PeterkovaV A-DedovI I-NosikovV Vnosikov@genetika.ru201215082012584ТОМ 58, №4 (2012)1417Copyright © Kopylova O.I., Kuraeva T.L., Lavrikova E.I., Titovich E.V., Nikitin A.G., Smirnova G.E., Peterkova V.A., Dedov I.I., Nosikov V.V., 20122012Kopylova O.I., Kuraeva T.L., Lavrikova E.I., Titovich E.V., Nikitin A.G., Smirnova G.E., Peterkova V.A., Dedov I.I., Nosikov V.V.Kopylova O.I., Kuraeva T.L., Lavrikova E.I., Titovich E.V., Nikitin A.G., Smirnova G.E., Peterkova V.A., Dedov I.I., Nosikov V.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.probl-endojournals.ru/jour/article/view/4671

Проблема риска сахарного диабета 1-го типа (СД1) до настоящего времени остается актуальной, так как до конца не изучены вопросы этиологии, генетической предрасположенности и прогноза заболевания. В основе развития любого аутоиммунного процесса лежат нарушения тонких молекулярных механизмов регуляции иммунной системы, поэтому гены, кодирующие основные ее компоненты, являются потенциальными генами-кандидатами предрасположенности к СД1. Для изучения ассоциации с СД1 проведен сравнительный анализ распределения частот аллелей и генотипов полиморфного маркера rs3087243 (G6230А) гена CTLA4, кодирующего антиген 4 цитотоксических Т-лимфоцитов. В исследование были включены 257 больных СД1 и 526 здоровых лиц. Идентификацию генотипов проводили методом амплификации "в реальном времени". Генотип АА встречался реже в группе больных СД1, чем в контрольной группе (11,3 и 22,1% соответственно), а частота генотипа GG была выше у больных СД1, чем среди здоровых лиц (44,7 и 37,5% соответственно). Полученные результаты показывают, что полиморфный маркер rs3087243 гена СTLA4 высоко достоверно ассоциирован с предрасположенностью к развитию СД1 у больных русского происхождения.

The risk of devolvement of type 1 diabetes mellitus (DM1) remains a challenging problem because neither etiology of the disease nor its prognosis and genetic predisposition to this condition are clearly understood. The development of any autoimmune process starts from the disturbance of subtle molecular mechanisms involved in the regulation of the immune system. Therefore, the genes controlling the function of its major components are at the same time the potential candidate genes encoding for the predisposition to DM1. Their association with the disease was studied by means of comparative analysis of the frequency distribution of alleles and genotypes of the polymorphous rs3087243 (G6230A) marker of the CTLA4 gene encoding for antigen-4 of cytotoxic T-lymphocytes. The present study included 257 patients presenting with type 1 diabetes mellitus and 526 healthy subjects. Genotypes were identified by the "real time" amplification technique. The AA genotype was found to occur less frequently in the diabetic patients than in the control group (11.3% and 22.1% respectively). In contrast, the frequency of the GG genotype was higher in the patients with DM1 than in the healthy subjects (44.7% and 37.5% respectively). It is concluded that the polymorphous rs3087243 marker of the CTLA4 gene is significantly associated with the predisposition to the development of type 1 diabetes mellitus in the patients of Russian descent.

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The authors declare that there are no conflicts of interest present.