Volume 20, Issue 2 (Iranian South Medical Journal 2017)                   Iran South Med J 2017, 20(2): 135-142 | Back to browse issues page


XML Persian Abstract Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Salehi Z, Gholaminia M, Gholaminia Z, Panjtanpanah M R. Study of eNOS Glu298Asp Polymorphism in Glaucoma Patients in Gilan Population. Iran South Med J 2017; 20 (2) :135-142
URL: http://ismj.bpums.ac.ir/article-1-866-en.html
1- Department of Biology, School of Sciences, University of Guilan, Rasht, Iran , geneticzs@yahoo.co.uk
2- Department of Biology, School of Sciences, University of Guilan, Rasht, Iran
3- Department of ophthalmology, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran
Abstract:   (5632 Views)

Background: Glaucoma is the leading cause of irreversible blindness worldwide. It is characterized by degeneration of the retinal ganglion cells and optic nerve damage. Vascular dysregulation plays an important role in the etiology of glaucoma. Nitric oxide (NO) increases blood flow in the vessels of the tissue and helps to overcome the stress. Circulating NO is synthesized in the vascular endothelium by action of endothelial nitric oxide synthase (eNOS). Glu298Asp is one of the common polymorphism of eNOS gene. This study evaluates the association of eNOS ­Glu298Asp polymorphism with glaucoma.

Materials and Methods: This case-control study included 110 glaucoma patients and 121 controls. Genomic DNA was extracted from peripheral blood leukocytes. Genotypes were detected using a PCR-RFLP method. Statistical analysis was performed using the MedCalc program (version 12.1).

Results: The frequency of GG, GT and TT genotypes in controls were 0.52, 0.42 and 0.06, respectively while in glaucoma patients were 0.6, 0.32 and 0.08, respectively. No significant differences in genotypes frequencies were found between patients and controls (p=0.24, χ²=2.78). In control and patient groups, the frequency of G allele was 0.73 and 0.76, respectively and the frequency of T allele were 0.27 and 0.24, respectively. The allele frequencies did not differ significantly between controls and patients (p=0.56, χ²=0.33).

Conclusion: It is suggested that eNOS Glu298Asp polymorphism may not be associated with the risk factor of glaucoma in the studied population. However, larger and different ethnicities-based populations are required to achieve a definitive conclusion.

Full-Text [PDF 615 kb]   (1519 Downloads)    
Type of Study: Original | Subject: Biochemistry. Cell Biology and Genetics
Received: 2016/06/5 | Accepted: 2016/08/30 | Published: 2017/04/29

References
1. Quigley HA, Broman AT. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol 2006; 90(3): 262-67. [PubMed] [Google Scholar]
2. Rao KN, Nagireddy S, Chakrabarti S. Complex genetic mechanisms in glaucoma: an overview. Indian J Ophthalmol 2011; 59: S31-42. [PubMed] [Google Scholar]
3. Wang N, Wu H, Fan Z. Primary angle closure glaucoma in Chinese and Western populations. Chin Med J (Engl) 2002; 115(11): 1706-15. [PubMed] [Google Scholar]
4. Leske MC, Connell AM, Wu SY, et al. Risk factors for open-angle glaucoma. The barbados eye study. Arch Ophthalmol 1995; 113(7): 918-24. [PubMed] [Google Scholar]
5. McKinnon SJ, Goldberg LD, Peeples P, et al. Current management of glaucoma and the need for complete therapy. Am J Manag Care 2008; 14(Suppl1): S20-7. [PubMed] [Google Scholar]
6. Kang JH, Wiggs JL, Rosner BA, et al. Endothelial nitric oxide synthase gene variants and primary open-angle glaucoma: interactions with hypertension, alcohol intake, and cigarette smoking. Arch Ophthalmol 2011; 129(6): 773-80. [PubMed] [Google Scholar]
7. Galassi F, Renieri G, Sodi A, et al. Nitric oxide proxies and ocular perfusion pressure in primary open angle glaucoma. Br J Ophthalmol 2004; 88(6): 757-60. [PubMed] [Google Scholar]
8. Poderoso JJ. The formation of peroxynitrite in the applied physiology of mitochondrial nitric oxide. Arch Biochem Biophysic 2009; 484(2): 214-20. [PubMed] [Google Scholar]
9. Chen PF, Wu KK. Structural elements contribute to the calcium/calmodulin dependence on enzyme activation in human endothelial nitric-oxide synthase. J Biol Chem 2003; 278(52): 52392-400. [PubMed] [Google Scholar]
10. Marsden PA, Heng HH, Scherer SW, et al. Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene. J Biol Chem 1993; 268(23): 17478-88. [PubMed] [Google Scholar]
11. Casas JP, Cavalleri GL, Bautista LE, et al. Endothelial nitric oxide synthase gene polymorphisms and cardiovascular disease: a HuGE review. Am J Epidemiol 2006; 164(10): 921-35. [PubMed] [Google Scholar]
12. Motallebipour M, Rada-Iglesias A, Jansson M, et al. The promoter of inducible nitric oxide synthase implicated in glaucoma based on genetic analysis and nuclear factor binding. Mol Vis 2005; 11: 950-7. [PubMed] [Google Scholar]
13. Haefliger IO, Dettmann E, Liu R, et al. Potential role of nitric oxide and endothelin in the pathogenesis of glaucoma. Surv Ophthalmol 1999; 43: S51-8. [PubMed] [Google Scholar]
14. Stamer WD, Lei Y, Boussommier-Calleja A, et al. eNOS, a pressure-dependent regulator of intraocular pressure. Invest Ophthalmol Vis Sci 2011; 52(13): 9438-44. [PubMed] [Google Scholar]
15. Borghi V, Bastia E, Guzzetta M, et al. A novel nitric oxide releasing prostaglandin analog, NCX 125, reduces intraocular pressure in rabbit, dog, and primate models of glaucoma. J Ocul Pharmacol Ther 2010; 26(2): 125-32. [PubMed] [Google Scholar]
16. Neufeld AH, Hernandez MR, Gonzalez M. Nitric oxide synthase in the human glaucomatous optic nerve head. Arch Ophthalmol 1997; 115(4): 497-503. [PubMed] [Google Scholar]
17. Colombo MG, Paradossi U, Andreassi MG, et al. Endothelial nitric oxide synthase gene polymorphisms and risk of coronary artery disease. Clin Chem 2003; 49(3): 389-95. [PubMed] [Google Scholar]
18. Berger K, Stögbauer F, Stoll M, et al. The glu298asp polymorphismin the nitric oxide synthase 3 gene is associated with the risk of ischemic stroke in two large independent case-control studies. Hum Genet 2007; 121(2): 169-78. [PubMed] [Google Scholar]
19. Kosior-Jarecka E, Łukasik U, Wróbel-Dudzińska D, et al. Risk factors for normal and high-tension glaucoma in poland in connection with polymorphisms of the endothelial nitric oxide synthase gene. PloS One 2016; 11(1): e0147540. [PubMed] [Google Scholar]
20. Kang JH, Wiggs JL, Rosner BA, et al. Endothelial nitric oxide synthase gene variants and primary open-angle glaucoma: interactions with sex and postmenopausal hormone use. Invest Ophthalmol Vis Sci 2010; 51(2): 971-9. [PubMed] [Google Scholar]
21. Magalhães da Silva T, Rocha AV, Lacchini R, 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): 142-46. [PubMed] [Google Scholar]
22. Godfrey V, Chan SL, Cassidy A, et al. The functional consequence of the Glu298Asp polymorphism of the endothelial nitric oxide synthase gene in young healthy volunteers. Cardiovascul Drug Rev 2007; 25(3): 280-8. [PubMed] [Google Scholar]
23. McDonald DM, Alp NJ, Channon KM. Functional comparison of the endothelial nitric oxide synthase Glu298Asp polymorphic variants in human endothelial cells. Pharmacogenet Genomic 2004; 14(12): 831-9. [PubMed] [Google Scholar]

Send email to the article author


Rights and Permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

© 2024 CC BY-NC 4.0 | Iranian South Medical Journal

Designed & Developed by: Yektaweb