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Polymorphism of genes of transforming growth factor TGFB and its receptors (TGFBRI, TGFBRII, and TGFBRIIII) in patients with primary open-angle glaucoma was analyzed. The frequency of the TGFBRII CC genotype in patients is increased relative to the control group (OR=6.10, p=0.0028). Heterozygosity in this polymorphic position is reduced (OR=0.18, p=0.0052). As the effects of TGF-β is mediated through its receptors, we analyzed complex of polymorphic variants of the studied loci in the genome of patients. Two protective complexes consisting only of receptor genes were identified: TGFBRI TT:TGFBRII CG (OR=0.10, p=0.02) and TGFBRII CG:TGFBRIII CG (OR=0.09, p=0.01). The study showed an association of TGFBRII polymorphism with primary open-angle glaucoma and the need to study functionally related genes in the development of the disease, which should contribute to its early diagnosis and prevention., (© 2024. Springer Science+Business Media, LLC, part of Springer Nature.)

The levels of spontaneous and concanavalin A-induced production of some key cytokines (TNF-α, IL-1β, IL-4, Il-6, and IL-10) were assessed in the cultures of mononuclear cells derived from healthy volunteers examined for polymorphism of the promotor sites of the respective genes. The presence of certain allelic variants in the promoter regions of human cytokine genes mostly determines the rates of induced and spontaneous cytokine production. Allelic variant -31C of IL-1β gene is associated with high production rate of the related cytokine. In addition, polymorphism of allelic variant C-590T of IL-4 gene significantly affects the production rates of IL-1β, TNF-α, IL-6, and IL-10.

Objective: To study frequencies of occurrence of the combined genetic attributes including different variants of cytokines genotypes (TNFA, IL1B, IL4, IL6, IL10, VEGF), in different on sexual and age groups in population of Siberia Caucasoid., Material and Methods: Frequencies of distribution of variants of structure genes cytokines networks among 500 representatives of Siberia Caucasian population, men and women of two age groups--more younger than 35 years ("young") and 55 and more years ("elderly") are investigated. In structure of investigated genes cytokines net has come 10 variants of polymorphic sites of cytokines genes and vascular endothelial growth factor gene: TNFA-863 C --> A, TNFA-308 G --> A, TNFA-238 G --> A, IL1B-31 C --> T, IL4-590 C --> T, IL6-174 G --> C, IL10-1082 G --> A, IL10-592 A --> C, VEGF-2578 C --> A and VEGF+936 C --> T. Genotyping are carried out by restriction fragment length polymorphism method. Processing of results carried out on the basis of the original methodological approach including the complex connected computer analysis of genic circuits of various dimension., Results and Conclusions: It is shown, that the significant part of variants genes cytokines networks, which widely distributed among young people is completely absent in the "elderly" age group. Such variants disappearing with age separately for men and women are established. At the program mathematical analysis it is established, that parameters of the odds ratio achieve two-place sizes (OR = 27, p = 0,0004), that testifies to high specificity of complex genetic attributes. Presence in genome such variants of genes cytokines networks, found out in the childhood or young age, as supposed, is unfavorable personalized prognostic factors of life span of the individual.

Based on population analysis of the DRB1, DQA1, DQB1 and TNFA allele frequency distribution patterns, regional features of immunogenetic structure of the population of West Siberia were investigated. Statistically significant linkage disequilibrium within the HLA class II region, as well as between the TNFA and DRB1, DQA1, and DQB1 was demonstrated. Population frequency distribution patterns of two- and multilocus haplotypes were examined.

HLA-B27 gene frequencies and allelic polymorphism were studied in two Siberian ethnic groups: Russians from Novosibirsk (western Siberia) and Tuvinians from Kyzyl (southern Siberia). The HLA-B27 frequencies were determined by means of serologic typing of HLA antigens in 198 Tuvinians and 288 Russians. Molecular typing was performed via hybridization of oligonucleotide probes with amplified DNAs obtained from 30 HLA-B27-positive Russians and 11 HLA-B27-positive Tuvinians. The HLA-B27 gene frequencies in Tuvinians and Russians were 5.5 and 10.4%, respectively. Molecular variants of the HLA-B27 gene were studied in Tuvinians for the first time. The proportions of the HLA-B2705 and HLA-B2704 alleles were found to be 64 and 36%, respectively, in the population studied. The presence of the HLA-B2704 allele indicates a Mongoloid origin of Tuvinians. In the Russian population of Novosibirsk, the HLA-B2704 allele was not found, whereas the proportions of the HLA-B2705 and HLA-B2702 alleles were 76.2 and 23.8%, respectively, which is characteristic of Caucasoid populations.