Association of polymorphic markers in <i>EDNRB</i> and <i>NLRP3</i> genes with the risk of developing various stages of primary open-angle glaucoma in residents of the Perm region

Background. Primary open-angle glaucoma (POAG) occupies a leading place among the causes of vision loss and blindness. According to the literature, the immunopathogenesis of POAG is associated with inflammatory processes, the development of which involves factors of innate immunity. In isolated articles, the development of this pathology is associated with NLRP3 inflammasome and oxygen explosion. However, there are practically no studies that reveal the issues of the mutually conditioning effect of the inflammasome and the factors involved in the process of oxidative stress and endothelial dysfunction. Aims — to study the association of polymorphic markers rs5351 of the EDNRB gene, rs7525979 of the NLRP3 gene at various stages of primary open-angle glaucoma. Methods. Peripheral blood of 141 patients with POAG and 97 patients with cataract was used. After DNA isolation, a polymerase chain reaction was performed in real time. The frequency of occurrence of alleles and genotypes in the study groups was calculated using the χ2 criterion, the Fisher exact criterion and the Mann–Whitney criterion.The results with p 0.05 were considered statistically significant. To quantify the relationship between the occurrence of POAG in patients and the carrier of an unfavorable polymorphic marker, the odds ratio and 95% confidence interval were calculated. Results. The main group and the comparison group were identified. Among the patients of the main group, depending on the stage of POAG, 4 subgroups were identified. Relative to the comparison group, the T allele and the heterozygous genotype of the polymorphic marker rs7525979 NLRP3 were associated with the risk of POAG, aggravating the I and IV stages of the disease, while the homozygous CC genotype played a protective role, especially with respect to the I and IV stages of POAG. The C allele was associated with stage IV OAG and played a protective role for patients with stage II OAG. Allele A rs5351 EDNRB played a protective role for patients with POAG, homozygous genotype GG was associated with the risk of POAG, heterozygous genotype played a protective role. Homozygous genotype AA increased the risk of developing stage I POAG, homozygous genotype GG increased the risk of stage IV POAG. Conclusions. alleles and genotypes of the EDNRB and NLRP3 genes can be considered as factors affecting the probability of occurrence of POAG. In this paper, we studied 2 polymorphic markers in 2 genes of innate immunity factors and found that they are associated with the development of POAG, as well as some of them are associated with a certain stage of POAG. These data can be used for diagnostic purposes as prognostic markers and in the development of immunomodulatory therapy for the prevention of POAG development and the progressive course of this disease.