HLA typing results and their significance for population of children with type 1 diabetes mellitus in Khanty-Mansi Autonomous Okrug-Yugra region

Molecular genetic studies make it possible to determine the relationship between genetic factors and the incidence of diabetes in different parts of the world. Molecular genetic studies to determine HLA genotypes predisposing to the development of type 1 diabetes have been conducted in many regions of the Russian Federation, including in the northern regions, for example, in Yakutia and the Yamalo-Nenets Autonomous Okrug. Due to the increasing incidence of type 1 diabetes in the territory of the Khanty-Mansiysk Autonomous Okrug, conducting research aimed at analyzing HLA genotypes in the pediatric population in order to predict the risks of predisposition of children to develop type 1 diabetes is very relevant. Purpose - comparison of the frequency of HLA antigens in children with type 1 diabetes mellitus and healthy children, in order to determine markers of predisposition and resistance to the development of the disease. Materials and methods. The subjects were divided into two groups. The experimental group included children with a confirmed diagnosis of type 1 diabetes receiving constant insulin therapy (n = 45). The control group was represented by children and adolescents without identified autoimmune diseases (n =54). The HLA typing of the selected samples (whole blood was used as a biomaterial) was carried out using specialized equipment for molecular genetic studies by PCR: a real-time DNA amplifier "QuantStudio 5". Results. During the study, it was shown that the maximum value relative to risk (RR) for haplotype DRB1*03-DQA1*0501-DQB1*0201, the incidence rate is 35.5% for individuals with type 1 diabetes, is 3.761, and for haplotype DRB1*04-DQA1*0301-DQB1*0302, with a frequency of the occurrence rate is 33.4%, the RR value is 3.459. Alleles DRB1*04 (48.8%) and DQA1*03:01 (57.7%) are more common in patients with type 1 diabetes in the territory of Yugra. The relative risk value for the DQA1*03:01 allele was RR=8.41. In the control group, the DRB1*02:01-DQB*02-DRB1*07 haplotype was significantly more common - 30%, this haplotype belongs to the protective ones and is associated with a low risk of developing the disease. Conclusion. The results obtained can be used to identify a set of markers of predisposition and resistance to the development of type 1 diabetes, which will help influence the prediction of the development of the disease in children with a hereditary predisposition to diabetes mellitus and will allow early preventive measures to reduce the risk of type 1 diabetes. EDN: XYCTDE