Isaiev Oleksii, Serdiuk Valerii, Ziablitsev Denys
DNIPRO STATE MEDICAL UNIVERSITY, DNIPRO, UKRAINE.
BOGOMOLETS NATIONAL MEDICAL UNIVERSITY, KYIV, UKRAINE.
Wiad Lek. 2022;75(12):3087-3093. doi: 10.36740/WLek202212133.
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.
旨在建立一种基于内皮型一氧化氮合酶（NOS3）基因遗传多态性来预测原发性开角型青光眼（POAG）的模型。
材料和方法：本研究纳入了153例POAG患者（153只眼）的基因分型结果。47例患者作为对照组。他们的年龄为65.0±13.1岁，病程为4.9±5.3年。借助TaqMan突变检测分析生命技术测试系统（美国），在实时模式下（Gene Amp® PCR System 7500扩增仪；美国）对患者血液进行聚合酶链反应。使用Statistica 10软件（StatSoft公司，美国）对所得结果进行数学检验。
结果：回归分析证实了NOS3基因的rs1799983和rs2070744多态性对POAG发病的影响。根据对疾病发生概率的影响程度计算其比重，结果显示rs2070744（72.2%）的影响大于rs1799983（38.5%）。构建了基于NOS3基因rs1799983和rs2070744多态性基因型的POAG风险回归模型，数学预测质量良好（-2log=202.59；χ2=28.91；P<0.001）。rs1799983和rs2070744的GT-CC和TT-CC单倍型携带者发生POAG的概率值分别超过了临界值（截断值=0.8），OR分别为4.39（95%CI 1.00 - 19.30；P=0.048）和OR 14.15（95%CI 1.88 - 106.28；P<0.001）。
结论：研究结果证明了风险基因型（rs1799983的TT和rs2070744的CC）对乌克兰人群POAG发病的重要性。研究表明，GT-CC和TT-CC单倍型携带者患POAG的风险显著增加。
