Prediction of the rate of progression of primary open-angle glaucoma depending on gender and polymorphism of the endothelial NO-synthase (NOS3) gene

Relevance – it is promising to develop a system for the diagnosis and prevention of primary open-angle glaucoma (POAG), which would be based on the determination of constitutive propensity factors and would be able to predict the onset and progression of the disease. The aim of the study was to deve...

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Main Authors: O.A. Isaiev, V.M. Serdiuk
Format: Article
Language:English
Published: Dnipro State Medical University 2022-12-01
Series:Medičnì Perspektivi
Subjects:
Online Access:http://journals.uran.ua/index.php/2307-0404/article/view/271215
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author O.A. Isaiev
V.M. Serdiuk
author_facet O.A. Isaiev
V.M. Serdiuk
author_sort O.A. Isaiev
collection DOAJ
description Relevance – it is promising to develop a system for the diagnosis and prevention of primary open-angle glaucoma (POAG), which would be based on the determination of constitutive propensity factors and would be able to predict the onset and progression of the disease. The aim of the study was to develop a model for predicting the rate of progression of primary open-angle glaucoma depending on gender and endothelial NO-synthase (NOS3) gene polymorphism. There were genotyped 153 patients with POAG aged 36-84 years. Genotypes rs1799983 and rs207074 were determined in the blood of patients by real-time polymerase chain reaction (amplifier Gene Amp® PCR System 7500; USA) using the TaqMan Mutation Detection Assays Life-Technology test system (USA). For mathematical processing of the obtained results, the Statistica 10 program (StatSoft, Inc., USA) was used. The rate of progression of POAG was higher in the presence of risk alleles in the haplotype of the NOS3 gene polymorphisms: T rs1799983 and C rs2070744 (haplotypes TT-CC, GT-CC and GT-CT), which, when distributed by gender, was more pronounced in women than in men of each of the possible haplotypes. The maximum difference was noted for carriers of the TT-SS haplotype, in whom the rate of progression of POAG in women exceeded that in men by 1.4 times (p<0.001). A regression model was built with satisfactory prediction indicators (multiple correlation coefficient R=0.963; coefficient of determination R2=0.928; p<0.001). The probable “hereditary” age of patients in which one or another stage of POAG should be expected is calculated. Gender and haplotypes rs1799983 and rs2070744 of the NOS3 gene were shown to be associated with the onset and rate of progression of POAG, which was implemented in the prognostic model of the disease. Separately for men and women, carriers of different haplotypes, the rate of progression and the possible age of POAG development by stages were calculated.
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spelling doaj.art-02bed1fbcd42442aad4a0cbef0d57d802023-01-16T13:26:34ZengDnipro State Medical UniversityMedičnì Perspektivi2307-04042022-12-0127415916810.26641/2307-0404.2022.4.271215309311Prediction of the rate of progression of primary open-angle glaucoma depending on gender and polymorphism of the endothelial NO-synthase (NOS3) geneO.A. Isaiev0https://orcid.org/0000-0002-6737-677XV.M. Serdiuk1https://orcid.org/0000-0001-9495-2472Dnipro State Medical University, V. Vernadskyi str., 9, Dnipro, 49044; KP "Dnipropetrovsk Regional Clinical Ophthalmological Hospital", Soborna squ., 14, Dnipro, 49005Dnipro State Medical University, V. Vernadskyi str., 9, Dnipro, 49044; KP "Dnipropetrovsk Regional Clinical Ophthalmological Hospital", Soborna squ., 14, Dnipro, 49005Relevance – it is promising to develop a system for the diagnosis and prevention of primary open-angle glaucoma (POAG), which would be based on the determination of constitutive propensity factors and would be able to predict the onset and progression of the disease. The aim of the study was to develop a model for predicting the rate of progression of primary open-angle glaucoma depending on gender and endothelial NO-synthase (NOS3) gene polymorphism. There were genotyped 153 patients with POAG aged 36-84 years. Genotypes rs1799983 and rs207074 were determined in the blood of patients by real-time polymerase chain reaction (amplifier Gene Amp® PCR System 7500; USA) using the TaqMan Mutation Detection Assays Life-Technology test system (USA). For mathematical processing of the obtained results, the Statistica 10 program (StatSoft, Inc., USA) was used. The rate of progression of POAG was higher in the presence of risk alleles in the haplotype of the NOS3 gene polymorphisms: T rs1799983 and C rs2070744 (haplotypes TT-CC, GT-CC and GT-CT), which, when distributed by gender, was more pronounced in women than in men of each of the possible haplotypes. The maximum difference was noted for carriers of the TT-SS haplotype, in whom the rate of progression of POAG in women exceeded that in men by 1.4 times (p<0.001). A regression model was built with satisfactory prediction indicators (multiple correlation coefficient R=0.963; coefficient of determination R2=0.928; p<0.001). The probable “hereditary” age of patients in which one or another stage of POAG should be expected is calculated. Gender and haplotypes rs1799983 and rs2070744 of the NOS3 gene were shown to be associated with the onset and rate of progression of POAG, which was implemented in the prognostic model of the disease. Separately for men and women, carriers of different haplotypes, the rate of progression and the possible age of POAG development by stages were calculated.http://journals.uran.ua/index.php/2307-0404/article/view/271215primary open-angle glaucomanos3rs1799983rs2070744prognosis
spellingShingle O.A. Isaiev
V.M. Serdiuk
Prediction of the rate of progression of primary open-angle glaucoma depending on gender and polymorphism of the endothelial NO-synthase (NOS3) gene
Medičnì Perspektivi
primary open-angle glaucoma
nos3
rs1799983
rs2070744
prognosis
title Prediction of the rate of progression of primary open-angle glaucoma depending on gender and polymorphism of the endothelial NO-synthase (NOS3) gene
title_full Prediction of the rate of progression of primary open-angle glaucoma depending on gender and polymorphism of the endothelial NO-synthase (NOS3) gene
title_fullStr Prediction of the rate of progression of primary open-angle glaucoma depending on gender and polymorphism of the endothelial NO-synthase (NOS3) gene
title_full_unstemmed Prediction of the rate of progression of primary open-angle glaucoma depending on gender and polymorphism of the endothelial NO-synthase (NOS3) gene
title_short Prediction of the rate of progression of primary open-angle glaucoma depending on gender and polymorphism of the endothelial NO-synthase (NOS3) gene
title_sort prediction of the rate of progression of primary open angle glaucoma depending on gender and polymorphism of the endothelial no synthase nos3 gene
topic primary open-angle glaucoma
nos3
rs1799983
rs2070744
prognosis
url http://journals.uran.ua/index.php/2307-0404/article/view/271215
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