Influence of rs1799983 (G894T, Glu298Asp) NOS3 on the primary open-angle glaucoma development

The WHO Global vision detection program and preventing blindness "VISION 2020: the right to Sight" has shown the need to identify the genetic predisposition to glaucoma. It provides new opportunities for diagnosis, early prevention and treatment. The aim of this study was to determine the effect of the rs1799983 polymorphism (G894T, Glu298Asp) of the NOS3 gene on the development of primary open-angle glaucoma (POAG) in patients from the Ukrainian population. The study involved data from 153 patients (153 eyes) with POAG and 47 controls. The age of patients was 65.0±13.1 years. The duration of the disease was 4.9±5.3 years. The real-time polymerase chain reaction (Gene Amp® PCR system 7500 amplifier; USA) was performed in the patients “blood using the TaqMan Mutation Detection Assays Life-Technology test system (USA). The Statistica 10 program (StatSoft, Inc.) was used for statistical processing of the obtained results, USA). The significant increase in the frequency of the minor genotype TA and the T allele was found in POAG compared to the controls. The distribution of genotypes was not associated with the disease (p=0.051). While the effect of alleles was significant: for the T allele, OR=1.806; 95% VI 1.11-2.93 (p=0.016). It was preserved when it was stratified by gender for women (OR=2.00; OR 1.01-3.95; p=0.043). According to the presence of the risk TT genotype rs1799983, POAG developed at the younger age (p<0.001), such patients had significantly higher intra-abdominal pressure, worse perimetry indicators (MD and PSD), lower thickness of nerve fiber layers (RNFL) and ganglion cell complex (GCC), a larger ratio of excavation area to the area of the optic disc (Cup/Disk Area Ratio). The Association of the RS1799983 polymorphism of the NOS3 gene with PVKG was also confirmed in other populations, and the aggravating effect of the minor TT genotype on the phenotype of patients was shown.