1ÔÃÁÓ Ôåäåðàëüíûé íàó÷íî-êëèíè÷åñêèé öåíòð ñïåöèàëèçèðîâàííûõ âèäîâ ìåäèöèíñêîé ïîìîùè è ìåäèöèíñêèõ òåõíîëîãèé ÔÌÁÀ Ðîññèè, ã. Ìîñêâà ÃÁÎÓ ÂÏÎ «Òþìåíñêàÿ ãîñóäàðñòâåííàÿ ìåäèöèíñêàÿ àêàäåìèÿ», ã. Òþìåíü С целью изучения ассоциации с сахарным диабетом типа 2 гена TCF7L2 проанализировано распределение частот аллелей и генотипов полиморфных маркеров rs7903146 и rs12255372 этого гена. В исследование вошли группы больных сахарным диабетом типа 2 и здоровых индивидов без признаков заболевания. Сравнительный анализ распределения частот аллелей и генотипов указывает на ассоциацию с этим заболеванием полиморфного маркера rs7903146 гена TCF7L2, в то время как для маркера rs12255372 не было обнаружено статистически значимой ассоциации. На основании полученных данных можно сделать вывод о том, что в русской популяции ген TCF7L2 ассоциирован с развитием СД типа 2.Ключевые слова: сахарный диабет типа 2, полиморфный маркер, генетическая предрасположенность.
ASSOCIATION OF THE POLYMORPHISMS OF THE TCF7L2 GENES WITH TYPE 2 DIABETESNikitin A.G., Potapov V.A., Brovkin A.N., Lavrikova E.Yu., Khodyrev D.S., Shamhalova M.Sh., Smetanina S.A., Suplotova L.N., Shestakova M.V., Nosikov V.V., Averyanov A.V.To study the association with diabetes mellitus type 2 we performed analysis of the distribu tion of frequencies of alleles and genotypes two polymorphic markers of TCF7L2 gene. The study included groups of T2DM patients and unrelated controls of Russian origin. Analysis of the dis tribution of frequencies of alleles and genotypes of the polymorphic marker rs7903146 of TCF7L2 gene showed the presence of association with T2DM in Russian population, while for the marker rs12255372 was not found statistically significant associations with type 2 diabetes. We can con clude that in Russian population TCF7L2 gene is associated with development of T2DM.
The autoimmune nature of insulin-dependent diabetes mellitus (IDDM) is currently undeniable. In the 80s, some features of its pathogenesis were determined: on beta cells of patients with newly diagnosed IDDM, overexpression of class I HLA antigens was detected; on beta and alpha cells of isolated islets of Langerhans, expression of class II HLA antigens in combination with tumor necrosis factor (TNF-alpha) and gamma-interferon (gamma-IF) was detected; the presence or absence of Asp-57 in the N-end of the beta1 domain of the HLADQ beta chain has been shown to be positively associated with IDDM in humans and NOD mice; it was revealed that macrophage interleukin-1 (IL-1) and TNF-alpha have a damaging effect on beta cells: IL-1 exhibits selective beta-cell cytotoxicity in low molar concentrations, and the effect of IL-1 is potentiated by TNF-alpha; it was determined that early infiltration during the development of inflammation of pancreas in BB rats is caused by macrophages and monocytes; destruction of beta cells is performed by T-helpers and natural killers. Thus, the autoimmune concept of the disease necessitates the use of immunotherapy to slow the development of IDDM.
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