The nature of the association of IL10 gene single nucleotide polymorphisms (rs1800896 and rs1800872) with the development of primary open-angle glaucoma in patients from different regions of Russia based on the results of a multicenter study

One of the development factors of primary open-angle glaucoma (POAG) is genetic predisposition to its occurrence, associated with the peculiarity of cytokine genes. However, mechanisms for the implementation of this phenomenon for different geographic regions remain unknown. The aim of the study analyze the distribution features of the single nucleotide polymorphisms of IL10 gene (rs1800896 and rs1800872) in groups of patients with POAG from four regions of the Russian Federation: Novosibirsk (NSR), Leningrad (LEN), Orenburg (ORE) regions and the Chuvash Republic (CHVSh). Material and methods. The comparative multicenter genetic study on 499 patients with POAG from 4 branches of the S. Fyodorov Eye Microsurgery Federal State Institution (Novosibirsk – 199 people, Cheboksary – 100 people, Orenburg – 100 people, St. Petersburg – 100 people) was conducted. The control group – 530 individuals without this disease. Genotyping was performed by TaqMan (Syntol, Russia). Differences were considered statistically significant at p < 0.05, with Bonferroni correction. Results and discussion. Statistically significant multidirectional interregional differences in the distribution of IL10 gene polymorphisms in POAG patients were revealed. The frequency of IL10 -592 C allele in patients from the LEN region have increased to 87.00 % relative to patients from NSO (72.86 %, odds ratio (OR) = 2.50, p _cor = 0.0006) and from ORE (75.50 %, OR = 2.17, p _cor = 0.0276), as well as IL10 -592 CC genotype. LEN region patients with this genotype have 3.57-fold higher chance of POAG developing than NSO patients ( p _cor = 0.0006) and 2.86-fold higher chance – relative to ORE residents ( p _cor = 0.0084). In LEN region patients the frequencies of IL10 -592 A, IL10 -592 CA and IL10 -592CA / IL10 -1082AA complex genotype were reduced relative to patients from the ORE (24.00 %, OR = 6.00, p _cor = 0,0016). This complex is, on the one hand, protective against POAG disease for residents of the LEN region, and on the other hand, a risk factor for the development of POAG in residents of the NSR and the ORE. Conclusions. We have identified new factors of genetic predisposition to the POAG development in Russian Federation and identified both positive and negative associative links with this ophthalmopathology. The results can be used to develop polygenic risk indicators for the POAG development, taking into account regional ethnogeographic specifics.