The role of eNOS gene polymorphisms in immunopathogenesis of primary open-angle glaucoma

• Published in: Žurnal mikrobiologii, ėpidemiologii i immunobiologii Vol. 99; no. 1; pp. 54 - 62
• Main Authors: Svitich, O. A., Kinkulkina, A. R., Avagyan, H. S., Gavrilova, T. V.
• Format: Journal Article
• Language: English
• Published: Central Research Institute for Epidemiology 10.03.2022
• Subjects: endothelial dysfunction; endothelial no synthase; immune privilege; polymorphic markers; primary open-angle glaucoma
• ISSN: 0372-9311; 2686-7613
• DOI: 10.36233/0372-9311-221

Introduction. Pathologies of the visual organ (keratitis, glaucoma, etc.) occupy a leading place among the causes of vision loss and blindness. According to the literature, the immunopathogenesis of bacterial keratitis is associated with the activation of macrophages and oxygen explosion. The role of these mechanisms in the pathogenesis of primary open-angle glaucoma is not fully understood. There are isolated studies in which the development of this pathology is associated with nitric oxide NO, which is produced by endothelial NO synthase (nos). However, despite numerous studies, the role of immunogenetics in the pathogenesis of glaucoma remains insufficiently researched.The aim of the study is to explore the association of T786C, C774T, Glu298Asp polymorphic markers of the eNOS gene with development of POAG in residents of the Perm Territory.Materials and methods. The study was performed using peripheral blood collected from 93 patients with POAG and 96 patients with cataracts. The real-time polymerase chain reaction was performed after the DNA extraction. The frequencies of alleles and genotypes in the study groups were measured using the chi-square (χ2 ) test and Fisher’s exact test. Results with p 0.05 were seen as statistically significant. The calculated odds ratio and the 95% confidence interval were used to quantify the association between POAG development in patients and the existence of an unfavorable polymorphic marker.Results. The C774T and Glu298Asp markers did not show any significant differences in the distribution of genotypes and alleles of the eNOS gene. Higher frequencies of the homozygous TT genotype; and lower frequencies of the C allele of T786C polymorphic locus of eNOS gene were detected in patients with POAG.Conclusion. Polymorphic markers of the eNOS gene can be seen as factors associated with the risk of POAG.