Relationship between rs1799983 and rs2070744 polymorphism of the NOS3 gene with primary open-angle glaucoma


  • O.A. Isaev Dnipro State Medical University, Dnipro, Ukraine; Public Utility “Dnipropetovsk Regional Clinical Ophthalmologic Hospital”, Dnipro, Ukraine



primary open-angle glaucoma, endothelial dysfunction, NOS3 gene, rs1799983, rs2070744


Background. The development of endothelial dysfunction (EDF) significantly impacts the development of primary open-angle glaucoma (POAG) due to its ability to provoke vasoconstriction and ischemia of the optic nerve, which accele­rates the progression of glaucomatous optic neuropathy. Patients with a hereditary predisposition to the development of EDF due to polymorphism of the endothelial NO-synthase (NOS3) genes may also be prone to the development of POAG. The study was aimed to establish the relationship of the rs1799983 and rs2070744 polymorphisms of the NOS3 gene with primary open-angle glaucoma. Material and methods. The data of 153 patients (153 eyes) with POAG and 47 controls were analyzed. The age of the patients was 65.0 ± 13.1 years; the duration of the disease was 4.9 ± 5.3 years. A real-time polymerase chain reaction was performed in the blood of patients (Gene Amp® PCR System 7500 Amplifier; USA) ­using the TaqMan Mutation Detection Assays Life-Technology test system (USA). Statistica 10 software (StatSoft, Inc., USA) was used for statistical processing of the obtained results. Results. In POAG patients, an increase in the frequency of the minor TT homozygote rs1799983 (2.8 times; PFet = 0.023) and a decrease in the frequency of the minor TT homozygote rs2070744 (1.9 times; PFet = 0.049) were found when compared with the control. The effect of rs1799983 genotypes on the distribution of patients was statistically significant for stages III and IV (p < 0.02), and the effect of rs2070744 genotypes was only for stage IV (p = 0.006). A relationship with POAG of alleles T rs1799983 (p = 0.016) and C rs2070744 (p = 0.025) was established, which, when stratified by stages, remained for III and IV (p < 0.025). Carriers of genotype TT rs1799983, in comparison with carriers of other genotypes, had higher intraocular pressure, worse perimetry results, less RNFL and GCC thickness, and higher Cup/Disk Area Ratio. Carriers of the CC rs2070744 genotype, in comparison with carriers of the TT genotype, had worse results of the perimetric examination and a smaller thickness of RNFL and GCC. Conclusions. The results obtained confirmed the presence of a relationship between the rs1799983 and rs2070744 polymorphisms of the NOS3 gene with POAG in patients of the Ukrainian population. The mechanism of realization of the influence of polymorphisms can be considered a tendency to develop EDF, which can accelerate the progression of glaucomatous optic neuropathy.


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Clinical Ophthalmology