Dimorphism -23HphI in the INS gene (rs689): the association with type 1 diabetes mellitus in the populations of the Russian Federation, the inter-population comparison of the frequencies

2014 ◽  
Vol 60 (6) ◽  
pp. 4-9
Author(s):  
O N Ivanova ◽  
S M Stepanova ◽  
N B Smirnova ◽  
Ya S Zvereva ◽  
Yu I Suntsov ◽  
...  

Objective. The objective of the present study was to elucidate the association between dimorfism -23HphI in the INS gene (rs689) and type 1 diabetes mellitus in several populations of the Russian Federation and to compare the frequency of alleles of this dimorphism in different populations. Material and methods. The case-control association was investigated in five populations of the Russian Federation, viz. Russian, Bashkir, Udmurtian, Yakutian, and Buryat ones. The DNA samples from 528 patients presenting with type 1 diabetes mellitus and 439 control subjects were available for the investigation, Polymorphism typing was performed using the RFLP-PCR technique. The degree of association of the trait of interest with the disease was estimated based on the odd ratio (OR) values. The calculations were made with the use of Statistica software package, version 6, www.statsoff.com and Microsoft Office Excel-2003. Results. The statistically significant association of type 1 diabetes mellitus with T allele and AA rs689 genotype was documented for the Russian, Bashkir, Udmurtian, and Yakutian populations. The protective marker in these populations were T allele and T+ genotype. A similar association was not found for the Buryat population characterized by the lowest diabetes morbidity rate. This population was significantly different from the remaining ones in the high frequency of A allele (87% vs 69-75%; p є [0.0002-0.004]) and AA genotype (77% vs 45-60%; p є [0.00006-0.01]). Conclusion. This study has demonstrated the inter-population differences in the frequency of rs689 alleles and the population-specific differences in the association of rs689 alleles with type 1 diabetes mellitus. It is concluded that the consideration of population-related peculiarities of clinical and genetic associations is an indispensable precondition for the further development of personalized medicine.

2020 ◽  
Vol 90 (9) ◽  
pp. 1510
Author(s):  
Л.А. Сопрун ◽  
С.Г. Ястребов

Using the method of selecting the main components associated with the correlation coefficients of the Pearson matrix, a possible relationship between the incidence of type 1 diabetes mellitus and various factors of urbanization in the Russian Federation has been identified. A hypothetical physical model of the impact of urbanization factors on incidence has been created. The problem of revealing the hidden causes of the incidence of type 1 diabetes mellitus in various regions of the Russian Federation and the contribution of factors of urbanization to the incidence is solved. The analysis uses a variety of statistical data on such factors of urbanization as the automobile road complex, emissions to surface wastewater and to the atmosphere.


2021 ◽  
Vol 78 (4) ◽  
pp. 34-39
Author(s):  
Iryna Kuz ◽  
Oleh Akimov ◽  
Vitalii Kostenko ◽  
Olga Sheshukova ◽  
Alina Maksymenko ◽  
...  

Introduction. The presence of type 1 diabetes mellitus in children is a major risk factor for periodontal disease. The aim of research work was to determine the activity of NO-synthase and arginase in saliva in children age with insulin-dependent diabetes mellitus. Materials and methods We examined 82 children including 56 children with type 1 diabetes mellitus and 26 children without somatic diseases. NO-synthase (NOS) activity was determined by the difference in nitrite concentration before and after incubation of tissue homogenate. Determining arginase activity was based on analysis the difference in the concentration of L-ornithine before and after incubation in phosphate buffer solution. Statistical processing was performed using Microsoft Office Excel. Research results and their discussion The violation of the indicators’ balance between groups 1 and 3 showed us a decrease in regenerative capacity in the mucous membrane in persons with type 1 diabetes mellitus. Increased ARG activity in group 4 children may lead to rivarly between NOS and ARG for L-arginine. Increased ARG activity in groups 2 and 4 compared with group 1 indicated an adaptive response aimed at repairing gum damage. Based on this, increased NO production from NOS is a consequence of insulin deficiency (systemic factor). Conclusions. The combination of systemic factor (type 1 diabetes mellitus) and local (chronic catarrhal gingivitis) leads to dysregulation of the NO-cycle and increasing of competition between NOS and ARG. ФУНКЦИОНИРОВАНИЕ NO-ЦИКЛА В СЛЮНЕ У ДЕТЕЙ С САХАРНЫМ ДИАБЕТОМ І ТИПА Кузь И.А., Акимов О.Е., Костенко В.А., Шешукова О.В., Максименко А.И., Писаренко Е.А. Полтавский государственный медицинский университет Вступление. Наличие у детей сахарного диабета І типа является основным фактором риска заболеваний пародонта. Целью исследования было определение активности NO-синтазы и аргиназы в слюне у детей с инсулинозависимым сахарным диабетом. Материалы и методы. Обследовано 82 ребенка, в том числе 56 детей с сахарным диабетом І типа и 26 детей без соматических заболеваний. Активность NO-синтазы (NOS) определяли по разнице в концентрации нитрита до и после инкубации гомогената ткани. Определение активности аргиназы основывалось на анализе разницы в концентрации L-орнитина до и после инкубации в фосфатном буферном растворе. Статистическая обработка проводилась с использованием Microsoft Office Excel. Результаты исследований и их обсуждение. Нарушение баланса показателей между 1 и 3 группами свидетельствовало о снижении регенерационной способности слизистой оболочки у лиц с сахарным диабетом І типа. Повышенная активность ARG у детей группы 4 может привести к неравенству между NOS и ARG для L-аргинина. Повышенная активность ARG в группах 2 и 4 по сравнению с группой 1 указала на адаптивный ответ, направленный на восстановление повреждений десен. Исходя из этого, повышенная продукция NO из NOS является следствием дефицита инсулина (системный фактор). Выводы. Сочетание системного фактора (сахарный диабет І типа) и местного (хронический катаральный гингивит) приводит к нарушению регуляции NO-цикла и усилению конкуренции между NOS и ARG.


2013 ◽  
Vol 16 (2) ◽  
pp. 4-10
Author(s):  
O N Ivanova ◽  
Sergey Alexandrovich Prokof'ev ◽  
Natalia Borisovna Smirnova ◽  
Yulia Vladimirovna Tishina ◽  
Tatiana Prokop'evna Bardymova ◽  
...  

Aim. To evaluate the association of rs2476601 and rs2488457 polymorphisms with type 1 diabetes mellitus (T1DM) in several ethnic populations of Russian Federation and to estimate the cross-populational differences of these polymorphisms.Materials and Methods. A case-control design was applied to study the aforementioned polymorphisms in five ethnic populations of Russian Federation: Bashkir, Yakut, Buryat, Udmurt, Russian. We analyzed DNA samples from 491 patients with T1DM and 408 control subjects. Polymorphisms were identified with RFLP-PCR and RT-PCR. Strength of association was evaluated as odds ratio (OR). All calculations were performed with StatSoft STATISTICA (version 6) and Microsoft Excel 2003 software applications.Results. PTPN22 1858Т+ genotypes were associated with T1DM in Udmurt, Russian and Bashkir populations and PTPN22 1123C+ genotype in Buryat population. We did not find any associations of PTPN22 gene polymorphisms with T1DM in Yakut population. Cross-ethnic comparison of polymorphism frequencies showed statistically significant differences. Allele frequency distribution in Buryat population significantly differs from that of other studied ethnic groups with G-1123C (rs2488457; 71.3%) being a significantly more common finding than C type allele. Russian population of Moscow and Moscow Region is also characterized by higher prevalence of Ttype allele (13%) in C1858Т (rs2476601) polymorphism.Conclusion. Ethnic populations of Asian regions of Russian Federation, characterized by lower rates of T1DM (Yakut and Buryat) demonstrated highest prevalence of G-allele in G-1123C (rs2488457) polymorphism. On the contrary, analyses from Russian population of Moscow and Moscow Region, known to have higher rates of T1DM, suggest higher prevalence of T-allele in C1858Т (rs2476601) polymorphism.


2013 ◽  
pp. 21-29 ◽  
Author(s):  
Tat'yana Yur'evna Shiryaeva ◽  
◽  
Ekaterina Andreevna Andrianova ◽  
Yuriy Ivanovich Suntsov

2015 ◽  
Vol 61 (4) ◽  
pp. 29-42 ◽  
Author(s):  
I I Dedov ◽  
V A Peterkova ◽  
A V Karpushkina ◽  
N V Vartapetova ◽  
O R Shvabskiy ◽  
...  

This paper reports the results of the study designed to estimate the quality of medical aid provided to the children with type 1 diabetes mellitus in six regions of the Russian Federation. The primary objective of the study was to improve the quality and to enhance the availability of the medical assistance for the children suffering from endocrine diseases in the framework of the “Alpha-Endo” program


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