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

Authors

  • I. Pallikaris Institute of Vision and Optics, University of Crete, Iraklio, 71003, Greece https://orcid.org/0000-0003-1437-0320
  • V.M. Serdiuk Dnipro State Medical University, V. Vernadskyi str., 9, Dnipro, 49044; Communal enterprise «Dnepropetrovsk Regional Ophthalmological Hospital», Soborna square, 14, Dnipro, 49005, Ukraine https://orcid.org/0000-0001-9495-2472
  • S.B. Ustymenko Dnipro State Medical University, V. Vernadskyi str., 9, Dnipro, 49044; Communal enterprise «Dnepropetrovsk Regional Ophthalmological Hospital», Soborna square, 14, Dnipro, 49005, Ukraine https://orcid.org/0000-0002-8877-5438
  • O.A. Isaiev Dnipro State Medical University, V. Vernadskyi str., 9, Dnipro, 49044; Communal enterprise «Dnepropetrovsk Regional Ophthalmological Hospital», Soborna square, 14, Dnipro, 49005, Ukraine https://orcid.org/0000-0002-6737-677X

DOI:

https://doi.org/10.26641/2307-0404.2022.1.254376

Keywords:

primary open-angle glaucoma, rs1799983 (G894T, Glu298Asp) NOS

Abstract

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.

References

Antomonov MYu. [Mathematical processing and analysis of biomedical data]. Kyiv: Medinform; 2006. p. 558. Russian.

Veselovska ZF, Hommer A, Bezditko PA, Bezkorovayna IM, Nedzvetska GI, Drozhzhina NS, et al. [Glaucoma and dry eye disease: modern possibilities of topical treatment]. Ophthalmology. 2019;8(453):32-35. Ukrainian.

Nesterov AP. [Glaucoma]. Moscow: LTD "Medical Information Agency"; 2014. p. 360. Russian.

Emam WA, Zidan HE, Abdulhalim BE, Dabour SA, Ghali MA, Kamal AT. Endothelial nitric oxide synthase polymorphisms and susceptibility to high-ten¬sion primary open-angle glaucoma in an Egyptian cohort. Mol Vis. 2014;20:804-11.

Glaucoma. American Optometric Association. [Internet]. 2020. Available from: https://www.aoa.org/healthy-eyes/eye-and-visioncondi¬tions/glaucoma?sso=y

Grandl G, Wolfrum C. Hemostasis, endothelial stress, inflammation, and the metabolic syndrome. Semin Immunopathol. 2018;40(2):215-24. doi: https://doi.org/10.1007/s00281-017-0666-5

Hoguet A, Chen PP, Junk AK, Mruthyunjaya P, Nouri-Mahdavi K, et al. The Effect of Anti-Vascular Endothelial Growth Factor Agents on Intraocular Pressure and Glaucoma: A Report by the American Academy of Ophthalmology. Ophthalmology. 2019 Apr;126(4):611-22. doi: https://doi.org/10.1016/j.ophtha.2018.11.019

Jeoung JW, Kim DM, Oh S, Lee JS, Park SS, Kim JY. The relation between endothelial nitric oxide synthase polymorphisms and normal tension glaucoma. JG laucoma. 2017;26(11):1030-5. doi: https://doi.org/10.1097/IJG.0000000000000751

Kennedy K, Podbielski D, Nanji K, Muratov S, Ahmed I, Xie F. Disease-specific preference-based measure of glaucoma health states: HUG-5 psychometric validation. J Glaucoma. 2019;28(7):593-600. doi: https://doi.org/10.1097/IJG.0000000000001267

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

Magalhães da Silva T, Rocha AV, Lacchini R, Marques CR, Silva ES, Tanus-Santos JE, Rios-Santos F. Association of polymorphisms of endothelial nitric oxide synthase (eNOS) gene with the risk of primary open angle glaucoma in a Brazilian population. Gene. 2012 Jul 10;502(2):142-6. doi: https://doi.org/10.1016/j.gene.2012.04.047

Mudassar IB, Yew KK, Thambiraja R, Sulong S, Ghulam RA, Ahmad TL. Microvascular endothelial function and primary open angle glaucoma. Ther Adv Ophthalmol. 2019;11:2515841419868100. doi: https://doi.org/10.1177/2515841419868100

Picciano AL, Crane BR. A nitric oxide synthase-like 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

Quigley HA, Broman AT. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol. 2006;90(3):262-7. doi: https://doi.org/10.1136/bjo.2005.081224

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. Epub ahead of print. PMID: 33837898. doi: https://doi.org/10.1007/s10792-021-01832-y

Downloads

Published

2022-03-30

How to Cite

1.
Pallikaris I, Serdiuk V, Ustymenko S, Isaiev O. Influence of rs1799983 (G894T, Glu298Asp) NOS3 on the primary open-angle glaucoma development. Med. perspekt. [Internet]. 2022Mar.30 [cited 2024May18];27(1):117-23. Available from: https://journals.uran.ua/index.php/2307-0404/article/view/254376

Issue

Section

CLINICAL MEDICINE