No difference in genotype frequencies of polymorphisms of the nitric oxide pathway between Caucasian normal and high tension glaucoma patients

Molecular Vision

Volumn 18, Issue , 2012, Pages 2174-2181

  Weiss, Johanna ^a   Fränkl, Stephan A ^b   Flammer, Josef ^b   Grieshaber, Matthias C ^b   Hollo, Gabor ^c   Teuchner, Barbara ^d   Haefeli, Walter Emil ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b UNIVERSITY EYE CLINIC   (Switzerland)

^c SEMMELWEIS UNIVERSITY   (Hungary)

^d INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; CYTOCHROME B; CYTOCHROME B 235 ALPHA; ENDOTHELIAL NITRIC OXIDE SYNTHASE; GLYCINE; NITRIC OXIDE; THREONINE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CAUCASIAN; CYTOCHROME B 235 ALPHA GENE; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DNA POLYMORPHISM; ENDOTHELIAL NITRIC OXIDE SYNTHASE GENE; FEMALE; GENE; GENE FREQUENCY; GENE LOCATION; GENETIC ASSOCIATION; GENETIC RISK; GLAUCOMA; HAPLOTYPE; HIGH TENSION GLAUCOMA; HOMOZYGOTE; HUMAN; LOW TENSION GLAUCOMA; MAJOR CLINICAL STUDY; MALE; MOLECULAR PHYLOGENY; PRIORITY JOURNAL; VASCULAR DISEASE;

AGED; ALLELES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GLAUCOMA, OPEN-ANGLE; HUMANS; INTRAOCULAR PRESSURE; LOW TENSION GLAUCOMA; MALE; MIDDLE AGED; NADPH OXIDASE; NITRIC OXIDE; NITRIC OXIDE SYNTHASE TYPE III; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84865816206     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (59)

1. European Glaucoma Society. Terminology and guidelines for glaucoma. http://www.eugs.org/eng/EGS_guidelines.asp
2. Flammer J, Orgul S, Costa VP, Orzalesi N, Krieglstein GK, Serra LM, Renard JP, Stefansson E. The impact of ocular blood flow in glaucoma. Prog Retin Eye Res 2002; 21:359-93. [PMID: 12150988]
3. Quigley HA, Broman AT. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol 2006; 90:262-7. [PMID: 16488940]
4. Quigley HA. Number of people with glaucoma worldwide. Br J Ophthalmol 1996; 80:389-93. [PMID: 8695555]
5. Stumpff F, Wiederholt M. Regulation of trabecular meshwork contractility. Ophthalmologica 2000; 214:33-53. [PMID: 10657743]
6. Harris A, Werne A, Cantor LB. Vascular abnormalities in glaucoma: from population-based studies to the clinic? Am J Ophthalmol 2008; 145:595-7. [PMID: 18358850]
7. Galassi F, Giambene B. VArriale R. Systemic vascular dysregulation and retrobulbar hemodynamics in normaltension glaucoma. Invest Ophthalmol Vis Sci 2011; 52:4467-71. [PMID: 21482642]
8. Mozaffarieh M, Osusky R, Schotzau A, Flammer J. Relationship between optic nerve head and finger blood flow. Eur J Ophthalmol 2010; 20:136-41. [PMID: 19882525]
9. Strenn K, Matulla B, Wolzt M, Findl O, Bekes MC, Lamsfuss U, Graselli U, Rainer G, Menapace R, Eichler HG, Schmetterer L. Reversal of endothelin-1-induced ocular hemodynamic effects by low-dose nifedipine in humans. Clin Pharmacol Ther 1998; 63:54-63. [PMID: 9465842]
10. Grieshaber MC, Mozaffarieh M, Flammer J. What is the link between vascular dysregulation and glaucoma? Surv Ophthalmol 2007; 52:S144-54. [PMID: 17998040]
11. Emre M, Orgül S, Haufschild T, Shaw SG, Flammer J. Increased plasma endothelin-1 levels in patients with progressive open angle glaucoma. Br J Ophthalmol 2005; 89:60-3. [PMID: 15615748]
12. Karantzoulis-Fegaras F, Antoniou H, Lai SL, Kulkami G, D'Abreo C, Wong GK, Miller TL, Chan Y, Atkins J, Wang Y, Marsden PA. Characterization of the human endothelial nitric-oxide synthase promoter. J Biol Chem 1999; 274:3076-93. [PMID: 9915847]
13. Levy AS, Chung JC, Kroetsch JT, Rush JW. Nitric oxide and coronary vascular endothelium adaptations in hypertension. Vasc Health Risk Manag 2009; 5:1075-87. [PMID: 20057900]
14. Kelm M, Dahmann R, Wink D, Feelisch M. The nitric oxide/superoxide assay. Insights into the biological chemistry of the NO/O-2. interaction. J Biol Chem 1997; 272:9922-32. [PMID: 9092531]
15. Babior BM. NADPH oxidase: an update. Blood 1999; 93:1464-76. [PMID: 10029572]
16. Görlach A, Brandes RP, Bassus S, Kronemann N, Kirchmaier CM, Busse R, Schini-Kerth VB. Oxidative stress and expression of p22phox are involved in the up-regulation of tissue factor in vascular smooth muscle cells in response to activated platelets. FASEB J 2000; 14:1518-28. [PMID: 10928986]
17. Guzik TJ, West N, Black E, McDonald D, Ratnatunga C, Pillai R, Channon KM. Functional effect of the C242T polymorphism in the NAD(P)H oxidase p22phox gene on vascular superoxide production in atherosclerosis. Circulation 2000; 102:1744-7. [PMID: 11023926]
18. Ito D, Murata M, Watanabe K, Yoshida T, Saito I, Tanahashi N, Fukuuchi Y. C242T polymorphism of NADPH oxidase p22 PHOX gene and ischemic cerebrovascular disease in the Japanese population. Stroke 2000; 31:936-9. [PMID: 10754002]
19. Inoue N, Kawashima S, Kanazawa K, Yamada S, Akita H, Yokoyama M. Polymorphism of the NADH/NADPH oxidase p22 phox gene in patients with coronary artery disease. Circulation 1998; 97:135-7. [PMID: 9445163]
20. Li A, Prasad A, Mincemoyer R, Satorius C, Epstein N, Finkel T, Quyyumi AA. Relationship of the C242T p22phox gene polymorphism to angiographic coronary artery disease and endothelial function. Am J Med Genet 1999; 86:57-61. [PMID: 10440830]
21. Fan M, Kähönen M, Rontu R, Lehtinen R, Viik J, Niemi M, Nieminen T, Niemelä K, Pörsti I, Kööbi T, Turjanmaa V, Lehtimäki T. The p22phox C242T gene polymorphism is associated with a reduced risk of angiographically verified coronary artery disease in a high-risk Finnish Caucasian population. The Finnish Cardiovascular Study. Am Heart J 2006; 152:538-42. [PMID: 16923427]
22. Cahilly C, Ballantyne CM, Lim DS, Gotto A, Marian AJ. A variant of p22 (phox), involved in generation of reactive oxygen species in the vessel wall, is associated with progression of coronary atherosclerosis. Circ Res 2000; 86:391-5. [PMID: 10700443]
23. Genius J, Grau AJ, Lichy C. The C242T polymorphism of the NAD(P)H oxidase p22phox subunit is associated with an enhanced risk for cerebrovascular disease at a young age. Cerebrovasc Dis 2008; 26:430-3. [PMID: 18799874]
24. Delles C, Zimmerli LU, McGrane DJ, Koh-Tan CH, Pathi VL, McKay AJ, Steedman T, Dargie HJ, Hamilton CA, Dominiczak AF. Vascular stiffness is related to superoxide generation in the vessel wall. J Hypertens 2008; 26:946-55. [PMID: 18398337]
25. Cai H, Duarte N, Wilcken DE, Wang XL. NADH/NADPH oxidase p22 phox C242T polymorphism and coronary artery disease in the Australian population. Eur J Clin Invest 1999; 29:744-8. [PMID: 10469162]
26. Haefliger IO, Flammer J, Lüscher TF. Heterogeneity of endothelium-dependent regulation in ophthalmic and ciliary arteries. Invest Ophthalmol Vis Sci 1993; 34:1722-30. [PMID: 8473112]
27. Luksch A, Polak K, Beier C, Polska E, Wolzt M, Dorner GT, Eichler HG, Schmetterer L. Effects of systemic NO synthase inhibition on choroidal and optic nerve head blood flow in healthy subjects. Invest Ophthalmol Vis Sci 2000; 41:3080-4. [PMID: 10967067]
28. Mann RM, Riva CE, Stone RA, Barnes GE, Cranstoun SD. Nitric oxide and choroidal blood flow regulation. Invest Ophthalmol Vis Sci 1995; 36:925-30. [PMID: 7706041]
29. Dorner GT, Garhofer G, Kiss B, Polska E, Polak K, Riva CE, Schmetterer L. Nitric oxide regulates retinal vascular tone in humans. Am J Physiol Heart Circ Physiol 2003; 285:H631-6. [PMID: 12750062]
30. Simader C, Lung S, Weigert G, Kolodjaschna J, Fuchsjäger-Mayrl G, Schmetterer L, Polska E. Role of NO in the control of choroidal blood flow during a decrease in ocular perfusion pressure. Invest Ophthalmol Vis Sci 2009; 50:372-7. [PMID: 19124845]
31. Polak K, Luksch A, Berisha F, Fuchsjaeger-Mayrl G, Dallinger S, Schmetterer L. Altered nitric oxide system in patients with open-angle glaucoma. Arch Ophthalmol 2007; 125:494-8. [PMID: 17420369]
32. Tunny TJ, Richardson KA, Clark CV. Association study of the 5′ flanking regions of endothelial-nitric oxide synthase and endothelin-1 genes in familial primary open-angle glaucoma. Clin Exp Pharmacol Physiol 1998; 25:26-9. [PMID: 9493554]
33. Logan JF, Chakravarthy U, Hughes AE, Patterson CC, Jackson JA, Rankin SJ. Evidence for asswociation of endothelial nitric oxide synthase gene in subjects with glaucoma and a history of migraine. Invest Ophthalmol Vis Sci 2005; 46:3221-6. [PMID: 16123422]
34. Kang JH, Wiggs JL, Rosner BA, Hankinson SE, Abdrabou W, Fan BJ, Haines J, Pasquale LR. Endothelial nitric oxide synthase gene variants and primary open-angle glaucoma: interactions with sex and postmenopausal hormone use. Invest Ophthalmol Vis Sci 2010; 51:971-9. [PMID: 19815736]
35. Weiss J, Fricker R, Haefeli WE. Rapid detection of polymorphisms of the nitric oxide cascade. Clin Chem Lab Med 2002; 40:341-4. [PMID: 12059072]
36. Weiss J, Haefeli WE, Gasse C, Hoffmann MM, Weyman J, Gibbs S, Mansmann U, Bärtsch P. Lack of evidence for association of high altitude pulmonary edema and polymorphisms of the NO pathway. High Alt Med Biol 2003; 4:355-66. [PMID: 14561241]
37. Haefliger IO, Dettmann E, Liu R, Meyer P, Prünte C, Messerli J, Flammer J. Potential role of nitric oxide and endothelin in the pathogenesis of glaucoma. Surv Ophthalmol 1999; 43:S51-8. [PMID: 10416747]
38. Schmetterer L, Polak K. Role of nitric oxide in the control of ocular blood flow. Prog Retin Eye Res 2001; 20:823-47. [PMID: 11587919]
39. Polak K, Luksch A, Berisha F, Fuchsjaeger-Mayrl G, Dallinger S, Schmetterer L. Altered nitric oxide system in patients with open-angle glaucoma. Arch Ophthalmol 2007; 125:494-8. [PMID: 17420369]
40. Yoshimura M, Yasue H, Nakayama M, Shimasaki Y, Sumida H, Sugiyama S, Kugiyama K, Ogawa H, Ogawa Y, Saito Y, Miyamoto Y, Nakao K. A missense Glu298Asp variant in the endothelial nitric oxide synthase gene is associated with coronary spasm in the Japanese. Hum Genet 1998; 103:65-9. [PMID: 9737779]
41. Miyamoto Y, Saito Y, Kajiyama N, Yoshimura M, Shimasaki Y, Nakayama M, Kamitani S, Harada M, Ishikawa M, Kuwahara K, Ogawa E, Hamanaka I, Takahashi N, Kaneshige T, Teraoka H, Akamizu T, Azuma N, Yoshimasa Y, Yoshimasa T, Itoh H, Masuda I, Yasue H, Nakao K. Endothelial nitric oxide synthase gene is positively associated with essential hypertension. Hypertension 1998; 32:3-8. [PMID: 9674630]
42. Lembo G, De Luca N, Battagli C, Iovino G, Aretini A, Musicco M, Frati G, Pompeo F, Vecchione C, Trimarco B. A common variant of endothelial nitric oxide synthase (Glu298Asp) is an independent risk factor for carotid atherosclerosis. Stroke 2001; 32:735-40. [PMID: 11239195]
43. Shimasaki Y, Yasue H, Yoshimura M, Nakayama M, Kugiyama K, Ogawa H, Harada E, Masuda T, Koyama W, Saito Y, Miyamoto Y, Ogawa Y, Nakao K. Association of the missense Glu298Asp variant of the endothelial nitric oxide synthase gene with myocardial infarction. J Am Coll Cardiol 1998; 31:1506-10. [PMID: 9626827]
44. Bedi M, McNamara D, London B, Schwartzman D. Genetic susceptibility to atrial fibrillation in patients with congestive heart failure. Heart Rhythm 2006; 3:808-12. [PMID: 16818212]
45. Erbs S, Möbius-Winkler S, Linke A, Adams V, Doll N, Gielen S, Gummert JF, Mohr FW, Schuler G, Hambrecht R. Both T-786C and G894T polymorphism of endothelial nitric oxide synthase affect in-vitro endothelium-dependent relaxation of internal mammary artery rings from patients with coronary artery disease. Eur J Cardiovasc Prev Rehabil 2006; 13:826-31. [PMID: 17001225]
46. Bhandary UV, Tse W, Yang B, Knowles MR, Demaine AG. Endothelial nitric oxide synthase polymorphisms are associated with hypertension and cardiovascular disease in renal transplantation. Nephrology (Carlton) 2008; 13:348-55. [PMID: 18331440]
47. Ritt M, Ott C, Delles C, Schneider MP, Schmieder RE. Impact of the endothelial nitric oxide synthase gene G894T polymorphism on renal endothelial function in patients with type 2 diabetes. Pharmacogenet Genomics 2008; 18:699-707. [PMID: 18622262]
48. Venturelli E, Villa C, Fenoglio C, Clerici F, Marcone A, Ghidoni R, Cortini F, Scalabrini D, Gallone S, Rainero I, Mandelli A, Restelli I, Binetti G, Cappa S, Mariani C, Giordana MT, Bresolin N, Scarpini E, Galimberti D. The NOS3 G894T (Glu298Asp) polymorphism is a risk factor for frontotemporal lobar degeneration. Eur J Neurol 2009; 16:37-42. [PMID: 19087148]
49. Lacolley P, Gautier S, Poirier O, Pannier B, Cambien F, Benetos A. Nitric oxide synthase gene polymorphisms, blood pressure and aortic stiffness in normotensive and hypertensive subjects. J Hypertens 1998; 16:31-5. [PMID: 9533414]
50. Hingorani AD, Liang CF, Fatibene J, Lyon A, Monteith S, Parsons A, Haydock S, Hopper RV, Stephens NG, O'Shaughnessy KM, Brown MJ. A common variant of the endothelial nitric oxide synthase (Glu298Asp) is a major risk factor for coronary artery disease in the UK. Circulation 1999; 100:1515-20. [PMID: 10510054]
51. Fricker R, Hesse C, Weiss J, Tayrouz Y, Hoffmann MM, Unnebrink K, Mansmann U, Haefeli WE. Endothelial venodilator response in carriers of genetic polymorphisms involved in NO synthesis and degradation. Br J Clin Pharmacol 2004; 58:169-77. [PMID: 15255799]
52. Zakrzewski-Jakubiak M, de Denus S, Dubé MP, Bélanger F, White M, Turgeon J. Ten renin-angiotensin system-related gene polymorphisms in maximally treated Canadian Caucasian patients with heart failure. Br J Clin Pharmacol 2008; 65:742-51. [PMID: 18279468]
53. Nakayama M, Yasue H, Yoshimura M, Shimasaki Y, Kugiyama K, Ogawa H, Motoyama T, Saito Y, Ogawa Y, Miyamoto Y, Nakao K. T-786C mutation in the 5′-flanking region of the endothelial nitric oxide synthase gene is associated with coronary spasm. Circulation 1999; 99:2864-70. [PMID: 10359729]
54. Nakayama M, Yasue H, Yoshimura M, Shimasaki Y, Ogawa H, Kugiyama K, Mizuno Y, Harada E, Nakamura S, Ito T, Saito Y, Miyamoto Y, Ogawa Y, Nakao K. T-786C mutation in the 5′-flanking region of the endothelial nitric oxide synthase gene is associated with myocardial infarction, especially without coronary organic stenosis. Am J Cardiol 2000; 86:628-34. [PMID: 10980213]
55. Ciftçi C, Melil S, Cebi Y, Ersöz M, Caǧatay P, Kiliçgedik M, Duman BS. Association of endothelial nitric oxide synthase promoter region (T-786C) gene polymorphism with acute coronary syndrome and coronary heart disease. Lipids Health Dis 2008; 7:5. [PMID: 18298848]
56. Tanus-Santos JE, Desai M, Flockhart DA. Effects of ethnicity on the distribution of clinically relevant endothelial nitric oxide variants. Pharmacogenetics 2001; 11:719-25. [PMID: 11692081]
57. Lin HJ, Tsai CH, Tsai FJ, Chen WC, Tsai SW, Fan SS. Distribution of oxidation enzyme eNOS and myeloperoxidase in primary open angle glaucoma. J Clin Lab Anal 2005; 19:87-92. [PMID: 15756709]
58. Ayub H, Khan MI, Micheal S, Akhtar F, Ajmal M, Shafique S, Ali SH, den Hollander AI, Ahmed A, Qamar R. Association of eNOS and HSP70 gene polymorphisms with glaucoma in Pakistani cohorts. Mol Vis 2010; 16:18-25. [PMID: 20069064]
59. Liao Q, Wang DH, Sun HJ. Association of genetic polymorphisms of eNOS with glaucoma. Mol Vis 2011; 17:153-8. [PMID: 21245953]