Prediction of the rate of progression of primary open-angle glaucoma depending on gender and polymorphism of the endothelial NO-synthase (NOS3) gene
DOI:
https://doi.org/10.26641/2307-0404.2022.4.271215Keywords:
primary open-angle glaucoma, NOS3, rs1799983, rs2070744, prognosisAbstract
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.
References
Ling JD, Bell NP. Role of cataract surgery in the management of glaucoma. Int Ophthalmol Clin. 2018;58(3):87-100. doi: https://doi.org/10.1097/IIO.0000000000000234
Cieza A, Keel S, Kocur I, Mccoy M, Mariotti SP. World report on vision. Geneva: World Health Organiza-tion. [Internet]; 2019. Available from: https://www.who.int/health-topics/blindness-and-vision-loss#tab=tab_1
Wang W, He M, Li Z, Huang W. Epidemiological variations and trends in health burden of glaucoma worldwide. Acta Ophthalmol. 2019;97(3):e349-e355. doi: https://doi.org/10.1111/aos.14044
Flaxman SR, Bourne RR, Resnikoff S, Ackland P, Braithwaite T, Cicinelli MV, et al. Vision loss expert group of the global burden of disease study. Global causes of blindness and distance vision impairment 1990-2020: a systematic review and meta-analysis. Lancet Glob Health. 2017;5(12):e1221-e34. doi: https://doi.org/10.1016/S2214-109X(17)30393-5
Bourne RR. Vision 2020: where are we? Curr Opin Ophthalmol. 2020;31(2):81-84. doi: https://doi.org/10.1097/ICU.0000000000000647
Torres LA, Hatanaka M. Correlating structural and functional damage in glaucoma. J Glaucoma. 2019;28(12):1079-85. doi: https://doi.org/10.1097/IJG.0000000000001346
Hymes J. Glaucoma. American Optometric Association. [Internet]; 2020. Available from: https://www.aoa.org/healthy-eyes/eye-and-visionconditions/glaucoma?sso=y
Mudassar IB, Yew KK, Thambiraja R, Sulong S, Ghulam RA, Ahmad TL. Microvascular endothelial func-tion and primary open angle glaucoma. Ther Adv Ophthalmol. 2019;11:2515841419868100. doi: https://doi.org/10.1177/2515841419868100
Vargas-Valderrama A, Messina A, Mitjavila-Garcia MT, Guenou H. The endothelium, a key actor in organ development and hPSC-derived organoid vascularization. J Biomed Sci. 2020;27(1):67. doi: https://doi.org/10.1186/s12929-020-00661-y
Krüger-Genge A, Blocki A, Franke RP, Jung F. Vascular endothelial cell biology: an update. Int J Mol Sci. 2019;20(18):4411. doi: https://doi.org/10.3390/ijms20184411
Picciano AL, Crane BR. A nitric oxide synthaselike protein from Synechococcus produces NO/NO3- from l-arginine and NADPH in a tetrahydrobiopterin- and Ca2+-dependent manner. J Biol Chem. 2019;294(27):10708-19. doi: https://doi.org/10.1074/jbc.RA119.008399
Liu Y, Allingham RR. Major review: Molecular genetics of primary openangle glaucoma. Exp Eye Res. 2017;160:62-84. doi: https://doi.org/10.1016/j.exer.2017.05.002
Salari N, Bokaee S, Farshchian N, Mohammadi M, Kazeminia M. The role of polymorphisms rs2070744 and rs1799983 eNOS gene in patients with POAG: a systematic review and meta-analysis. Int Ophthalmol. 2021 Apr 10. doi: https://doi.org/10.1007/s10792-021-01832-y
Terminology and Guidelines for Glaucoma. 4th Edition. European Glaucoma Society. Available on: www.eugs.org
Antomonov M.Yu. [Mathematical processing and analysis of medical and biological data]. 2 ed. Kyiv: Malyi druk. 2017.
Kanda Y. Investigation of the freely available easy-to-use software “EZR” for medical statistics. Bone Marrow Transplant. 2013 Mar;48(3):452-8. doi: https://doi.org/10.1038/bmt.2012.244
Magalhães da Silva T, Rocha AV, Lacchini R, Marques CR, Silva ES, Tanus-Santos JE, et al. Association of polymorphisms of endothelial nitric oxide synthase (eNOS) gene with the risk of primary open angle glaucoma in a Brazilian population. Gene. 2012;502(2):142-6. doi: https://doi.org/10.1016/j.gene.2012.04.047
Kang JH, Wiggs JL, Haines J, Abdrabou W, Pasquale LR. Reproductive factors and NOS3 variant interactions in primary open-angle glaucoma. Mol. Vis. 2011;17:2544-51. PMCID: PMC3198482. PMID: 22025889.
Emam WA, Zidan HE, Abdulhalim BE, Da-bour SA, Ghali MA, Kamal AT. Endothelial nitric oxide synthase polymorphisms and susceptibility to high-tension primary open-angle glaucoma in an Egyptian cohort. Mol. Vis. 2014;20:804-11. PMID: 24940036; PMCID: PMC4057245.
Xiang Y, Dong Y, Li X, Tang X. Association of Common Variants in eNOS Gene with Primary Open Angle Glau¬coma: A Meta-Analysis. J Ophthalmol. 2016;2016:1348347. doi: https://doi.org/10.1155/2016/1348347
Kondkar AA, Azad TA, Sultan T, Osman EA, Almobarak FA, Al-Obeidan SA. Association of endothelial nitric oxide synthase (NOS3) gene polymorphisms with primary open-angle glaucoma in a Saudi cohort. PLoS ONE. 2020;15(1):e0227417. doi: https://doi.org/10.1371/journal.pone.0227417
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2023 Medicni perspektivi
This work is licensed under a Creative Commons Attribution 4.0 International License.
Submitting manuscript to the journal "Medicni perspektivi" the author(s) agree with transferring copyright from the author(s) to publisher (including photos, figures, tables, etc.) editor, reproducing materials of the manuscript in the journal, Internet, translation into other languages, export and import of the issue with the author’s article, spreading without limitation of their period of validity both on the territory of Ukraine and other countries. This and other mutual duties of the author and all co-authors separately and editorial board are secured by written agreement by special form to use the article, the sample of which is presented on the site.
Author signs a written agreement and sends it to Editorial Board simultaneously with submission of the manuscript.
