PREDICTING THE OCCURRENCE OF PRIMARY OPEN-ANGLE GLAUCOMA DEPENDING ON THE GENETIC POLYMORPHISM ENDOTHELIAL NO SYNTHASE (NOS3) GENE

Abstract

The aim: To develop the model for predicting primary open – angle glaucoma (POAG) depending on the presence of the genetic polymorphism in the endothelial NO-synthase (NOS3) gene. Materials and methods: The results of genotyping 153 patients (153 eyes) with POAG are included in this investigation. 47 patients were in the control group. Their age was 65,0±13,1 years, duration of disease – 4,9±5,3 years. The polymerase chain reaction was carried out in the patients’ blood in the real time mode (Gene Amp® PCR System 7500 amplifier; USA) with the help of the TaqMan Mutation Detection Assays Life-Technology test system (USA). The program Statistica 10 (StatSoft, Inc., USA) was used for mathematical testing of the obtained results. Results: The regression analysis confirmed the effect of rs1799983 and rs2070744 polymorphisms of the NOS3 gene on the development of POAG. Calculating their specific gravity based on the degree of the impact on the probability of developing the disease showed that rs2070744 – 72.2% had the greater impact than rs1799983 – 38.5%. The regression model of POAG risk depending on the genotypes of the NOS3 gene rs1799983 and rs2070744 polymorphisms was constructed with the satisfactory quality of mathematical prediction (-2log=202.59; χ2=28.91; P<0.001). The value of probability of developing POAG exceeded the limit value (Cut-off=0.8), respectively, OR 4.39 (95% CI 1.00-19.30; P=0.048) and OR 14.15 (95% CI 1.88-106.28; P<0.001) in carriers of the rs1799983 and rs2070744 GT-CC and TT-CC haplotypes. Conclusions: The results of the study proved the importance of risk genotypes (TT rs1799983 and CC rs 2070744) for the development of POAG in patients from the Ukrainian population. It has been shown that the significant increase in the risk of POAG exists for carriers of the GT-CC and TT-CC haplotypes.