The role of rs2075575 polymorphism of the aquaporin 4 gene in the development of primary open-angle glaucoma
Background. Despite a comprehensive study of the pathogenesis of the disease, the mechanisms of primary open-angle glaucoma are not completely clear. Currently, the role of aquaporins in the regulation of intraocular pressure has been determined. Mutations were discovered that enhance and decrease the functions of aquaporin 4. The effect of various genetic variants of aquaporins on the value of intraocular pressure is described. The aim of research. To investigate the variability of the polymorphism of aquaporin 4 rs2075575 (C / T) in patients with glaucoma. Materials and methods. 101 persons with primary open-angle glaucoma and 80 persons without glaucoma (the control group) were examined. The age of the subjects ranged from 45 to 87 years. The average age was 66 years. The criterion for inclusion in the main group was the diagnosis of primary open-angle glaucoma of a developed, distant and terminal stage. The criteria for inclusion in the control group were age over 60 years, the absence of glaucoma, the absence of pronounced somatic pathology. DNAs were extracted from buccal epithelium. The polymerase chain reaction (PCR) method was used to determine the polymorphism of the aquaporin gene 4 rs2075575. Results. There was a significant difference in the distribution of genotypes in the study and control groups. СС genotype among patients with glaucoma occurs 1.8 times more often than in the control group. CT genotype, on the contrary, is 1.5 times more often in the control group. The odds ratio (OR) for this genotype is 2.48 (95% CI 1.30 - 4.74). The CT genotype reveals a protective role, OR = 0.52 (95% CI 0.28 - 0.97). The genotype of TT in the studied groups is slightly different in frequency of occurrence. Conclusion. The frequencies of gene polymorphisms of aquaporin 4 rs2075575 (C/Т) in patients with primary open-angle glaucoma and healthy were diverse. The likelihood of developing primary open-angle glaucoma is increased in carriers of the СС genotype. Genotype CT play a protective role for primary open-angle glaucoma.