Association between polymorphism of the NQO1, NOS3 and NFE2L2 genes and AMD

Frontiers in Bioscience

Volumn 18, Issue 1, 2013, Pages 80-90

  Synowiec, Ewelina ^a   Sliwinski, Tomasz ^a   Danisz, Katarzyna ^a   Blasiak, Janusz ^a   Sklodowska, Anna ^b   Romaniuk, Dorota ^c   Watala, Cezary ^d   Szaflik, Jerzy ^b   Szaflik, Jacek Pawel ^b  

^a UNIVERSITY OF LODZ   (Poland)

^b MEDICAL UNIVERSITY OF WARSAW   (Poland)

^c MEDICAL UNIVERSITY OF SILESIA   (Poland)

^d MEDICAL UNIVERSITY OF LODZ   (Poland)

Author keywords

AMD; Gene polymorphism; Iron; NFE2L2 gene; NOS3; NQO1; Reactive oxygen species

Indexed keywords

ENDOTHELIAL NITRIC OXIDE SYNTHASE; NFE2L2 PROTEIN, HUMAN; NOS3 PROTEIN, HUMAN; NQO1 PROTEIN, HUMAN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE (PHOSPHATE) DEHYDROGENASE (QUINONE); TRANSCRIPTION FACTOR NRF2;

AGED; ARTICLE; FEMALE; GENETIC PREDISPOSITION; GENETICS; HUMAN; MALE; MIDDLE AGED; OXIDATIVE STRESS; RETINA MACULA DEGENERATION; RISK; RISK FACTOR;

AGED; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MACULAR DEGENERATION; MALE; MIDDLE AGED; NAD(P)H DEHYDROGENASE (QUINONE); NF-E2-RELATED FACTOR 2; NITRIC OXIDE SYNTHASE TYPE III; OXIDATIVE STRESS; RISK; RISK FACTORS;

MLCS; MLOWN;

EID: 84878597422     PISSN: 27686701     EISSN: 27686698     Source Type: Journal    
DOI: 10.2741/4088     Document Type: Article

References (68)

1. M Sickenberg: Early detection, diagnosis and management of choroidal neovascularization in age-related macular degeneration: the role of ophthalmologists. Ophthalmologica 215, 247-253 (2001)
2. KB Freund, LA Yannuzzi, JA Sorenson: Age-related macular degeneration and choroidal neovascularization. Am J Ophthalmol 115, 786-791 (1993)
3. JR Yates, AT Moore: Genetic susceptibility to age related macular degeneration. J Med Genet 37, 83-87 (2000)
4. J Wang, R Klein, W Smith, BE Klein, S Tomany, P Mitchell: Cataract surgery and the 5-year incidence of late-stage age-related maculopathy pooled findings from the Beaver Dam and Blue Mountains eye studies. Ophthalmology 110, 1960-1967 (2003)
5. CC Klaver, RC Wolfs, JR Vingerling, A Hofman, PT de Jong: Age-specific prevalence and causes of blindness and visual impairment in an older population. The Rotterdam Study. Arch Ophthalmol 116, 653-658 (1998)
6. SC Tomany, JJ Wang, Van R Leeuwen, R Klein, P Mitchell, JR Vingerling, BE Klein, W Smith, PT De Jong: Risk factors for incident age-related macular degeneration: pooled findings from 3 continents. Ophtalmology 11, 1280-1287 (2004)
7. H Busch, T Vinding, M la Cour, GB Jensen, JU Prause, NV Nielsen: Risk factors for age-related maculopathy in 14-year follow-up study: the Copenhagen City Eye Study. Acta Ophtalmol Scand 83, 409-418 (2005)
8. RN Frank, JE Puklin, C Stock, LA Canter: Race, iris colour, and age-related macular degeneration. Trans Am Ophtalmol Soc 98, 109-117 (2000)
9. R Klein, BE Klein, SC Tomany, KJ Cruickshanks: The association of cardiovascular disease with the long-term incidence of age-related maculopathy: the Beaver Dam Eye Study. Ophtalmology 110, 636-643 (2003)
10. TE Clemons, RC Milton, R Klein, JM Seddon, FL Ferris: Risk factors for the incidence of advanced age-related macular degeneration in the Age-Related Disease Study (AREDS): AREDS report No. 19. Ophtalmology 112, 533-539 (2005)
11. BE Klein, R Klein, KE Lee: Incidence of age-related cataract: the Beaver Dam Eye Study. Ophtalmology 116, 219-225 (1998)
12. JP SanGiovanni, EY Chew, TE Clemons, MD Davis, FL Ferris, GR Gensler, N Kurinij, AS Lindblad, RC Milton, JM Seddon, RD Sperduto, Age-Related Eye Disease Study Research Group. The relationship of dietary lipid intake and age-related macular degeneration in a case-control study. AREDS report No. 20. Arch Ophtalmol 125, 671-679 (2007)
13. B Vojnicovic, S Njiric, M Coklo, J Spanjol: Ultraviolet sun radiation and incidence of age-related macular degeneration on Croatian Island Rab. Coll Antropol Suppl 1, 43-44 (2007)
14. JJ Wang, RJ Ross, J Tuo, G Burlutsky, AG Tan, CC Chan, EJ Favaloro, A Williams, P Mitchell: The LOC387715 polymorhism, inflammatory markers, smoking, and age-related macular degeneration. A population-based case-control study. Ophtalmology 115, 693-699 (2008)
15. JM Seddon, S George, B Rosner: Cigarette smoking, fish consumption, omega-3 fatty acid intake, and associations with age-related macular degeneration: the US Twin Study of Age-Related Macular Degeneration. Arch Ophtalmol 124, 995-1001 (2006)
16. HP Scholl, M Fleckenstein, P Charbel Issa, C Keilhauer, FG Holz, BH Weber: An update on the genetics of age-related macular degeneration. Mol Vis 13, 196-205 (2007)
17. AO Edwards, R Ritter 3rd, KJ Abel, A Manning, C Panhuysen, LA Farrer, Complement factor H polymorphism and age-related macular degeneration, Science 308, 421-424 (2005)
18. K Wozniak, JP Szaflik, M Zaras, A Sklodowska, K Janik-Papis, TR Poplawski, J Blasiak, J Szaflik: DNA damage/repair and polymorphism of the hOGG1 gene in lymphocytes of AMD patients. J Biomed Biotechnol 2009, 827562 (2009)
19. J Hu, Y Yuan, L Shen, J Zhang, N Hu, H Guan: Age-related macular degeneration-susceptibility single nucleotide polymorphisms in a Han Chinese control population. Ophthalmic Epidemiol 18, 137-142 (2011)
20. D Wysokinski, J Szaflik, A Sklodowska, U Kolodziejska, M Dorecka, D Romaniuk, K Wozniak, J Blasiak, JP Szaflik: The A Allele of the -576G>A polymorphism of the transferrin gene is associated with the increased risk of age-related macular degeneration in smokers. Tohoku J Exp Med 223, 253-261 (2011)
21. N Leveziel, EH Souied, F Richard, V Barbu, A Zourdani, G Morineau, J Zerbib, G Coscas, G Soubrane, P Benlian: PLEKHA1-LOC387715-HTRA1 polymorphisms and exudative age-related macular degeneration in the French population, Mol Vis 13, 2153-2159 (2007)
22. KL Spencer, LM Olson, BM Anderson, N Schnetz-Boutaud, WK Scott, P Gallins, A Agarwal, EA Postel, MA Pericak-Vance and JL Haines: C3 R102G polymorphism increases risk of age-related macular degeneration, Hum. Mol Genet 17, 1821-1824 (2008)
23. X Yang, J Hu, J Zhang and H Guan: Polymorphisms in CFH, HTRA1 and CX3CR1 confer risk to exudative age-related macular degeneration in Han Chinese, Br. J. Ophthalmol 94, 1211-1214 (2010)
24. J Zerbib, F Richard, N Puche, N Leveziel, SY Cohen, JF Korobelnik, J Sahel, A Munnich, J Kaplan, JM Rozet, EH Souied: R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population, Mol Vis 16, 1324-1330 (2010)
25. UT Brunk, A Terman: Lipofuscin: mechanisms of age-related accumulation and influence on cell function. Free Radic Biol Med 33, 611-619 (2002)
26. RW Wong, DC Richa, P Hahn, WR Green, JL Dunaief: Iron toxicity as a potential factor in AMD. Retina 27, 997-1003 (2007)
27. P Hahn, AH Milam, J.L.Dunaief: Maculas affected by age-related macular degeneration contain increased chelatable iron in the retinal pigmented epithelium and Bruch's membrane. Arch Ophthalmol 121, 1099-1105 (2003)
28. P Hahn, GS Ying, J Beard, JL Dunaief: Iron levels in human retina: sex difference and increase with age. Neuroreport 17, 1803-1806 (2006)
29. P Hahn, Y Qian, T Dentchev, L Chen, J Beard, ZL Harris, JL Dunaief: Disruption of ceruloplasmin and hephaestin in mice causes retinal iron overload and retinal degeneration with features of age-related macular degeneration. Proc Natl Acad Sci USA 101, 13850-13855 (2004)
30. M Hadziahmetovic, T Dentchev, Y Song, N Haddad, X He, P Hahn, D Pratico, R Wen, ZL Harris, JD Lambris, J Beard, JL Dunaief: Ceruloplasmin/ Hephaestin knockout mice model morphologic and molecular features of AMD. Invest Ophthalmol Vis Sci 49, 2728-2736 (2008)
31. S Wyllie, JG Liehr: Release of iron from ferritin storage by redox cyclingof stilbene and steroid estrogen metabolites: a mechanism of induction of free radical damage by estrogen. Arch Biochem Biophys 346, 180-186 (1997)
32. D Ross, RD Traver, D Siegel, BL Kuehl, V Misra, AM Rauth: A polymorphism in NAD(P)H: quinone oxidoreductase (NQO1): relationship of a homozygous mutation at position 609 of the NQO1 cDNA to NQO1 activity. Br J Cancer 74, 995-996 (1996)
33. D Siegel, SM McGuinness, SL Winski, D Ross: Genotype-phenotype relationships in studies of a polymorphism in NAD(P)H:quinine oxidoreductase 1. Pharmacogenetics 9, 113-121 (1999)
34. K Itoh, T Chiba, S Takahashi, T Ishii, K Igarashi, Y Katoh, T Oyake, N Hayashi, K Satoh, I Hatayama, M Yamamoto, Y Nabeshima: An Nrf2/small Maf heterodimer mediates the induction of phase II detoxifying enzyme genes through antioxidant response elements. Biochem Biophys Res Commun 236, 313-322 (1997)
35. AK Jaiswal: Regulation of genes encoding NAD(P)H:quinine oxidoreductases. Free Radic Biol Med 29, 254-262 (2000)
36. T Arisawa, T Tahara, T Shibata, M Nagasaka, M Nakamura, Y Kamiya, H Fujita, D Yoshioka, Y Arima, M Okubo, I Hirata, H Nakano: Association between promoter polymorphisms of nuclear factor-erythroid 2-related factor 2 gene and peptic ulcer diseases. Int J Mol Med 20, 849-853 (2007)
37. N Li, A E Nel: Role of the Nrf2-mediated signaling pathway as a negative regulator of inflammation: implications for the impact of particulate pollutants on asthma. Antioxid Redox Signal 8, 88-98 (2006)
38. TR Rebbeck: Inherited genetic predisposition in breast cancer. A population-based perspective. Cancer 86, 2493-2501 (1999)
39. M von Otter, S Landgren, S Nilsson, M Zetterberg, D Celojevic, P Bergström, L Minthon, N Bogdanovic, N Andreasen, DR Gustafson, I Skoog, A Wallin, G Tasa, K Blennow, M Nilsson, O Hammarsten, H Zetterberg: Nrf2-encoding NFE2L2 haplotypes influence disease progression but not risk in Alzheimer's disease and age-related cataract. Mech Ageing Dev 131, 105-110 (2010)
40. J Kanner, S Harel, R Granit: Nitric oxide as an antioxidant. Arch Biochem Biophys 289, 130-136 (1991)
41. NV Gorbunov, JC Yalowich, A Gaddam, P Thampatty, VB Ritov, ER Kisin, NM Elsayed, VE Kagan: Nitric oxide prevents oxidative damage produced by tert-butyl hydroperoxide in erythroleukemia cells via nitrosylation of heme and non-heme iron.Electron paramagnetic resonance evidence. J Biol Chem 272, 12328-12341 (1997)
42. BA Veldman, W Spiering, PA Doevendans, G Vervoort, AA Kroon, de PW Leeuw, P Smits: The Glu298Asp polymorphism of the NOS 3 gene as a determinant of the baseline production of nitric oxide. J Hypertens 20, 2023-2027 (2002)
43. PJ Rosenfeld, MB Gorin. Age-related macular degeneration. In: Genetics. Eds: JW Berger, SL Fine, MG Maguire, Mosby, St Louis, 69-80 (1999)
44. K Kimura, Y Isashiki, S Sonoda, T Kakiuchi-Matsumoto, N Ohba: Genetic association of manganese superoxide dismutase with exudative age-related macular degeneration. Am J Ophthalmol 130, 769-773 (2000)
45. CC Hong, CB Ambrosone, J Ahn, JY Choi, ML McCullough, VL Stevens, C Rodriguez, MJ Thun, EE Calle: Genetic variability in iron-related oxidative stress pathways (Nrf2, NQ01, NOS3, and HO-1), iron intake, and risk of postmenopausal breast cancer. Cancer Epidemiol Biomarkers Prev 16, 1784-1794 (2007)
46. N Yamada, M Yamaya, S Okinaga, K Nakayama, K Sekizawa, S Shibahara, H Sasaki: Microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with susceptibility to emphysema. Am J Hum Genet 66, 187-195 (2000)
47. M Schillinger, M Exner, W Mlekusch, R Ahmadi, H Rumpold, C Mannhalter, O Wagner, E Minar: Heme oxygenase-1 genotype is a vascular anti-inflammatory factor following balloon angioplasty. J Endovasc Ther 9, 385-394 (2002)
48. RG Ziegler, RN Hoover, AM Nomura, DW West, AH Wu, MC Pike, AJ Lake, PL Horn-Ross, LN Kolonel, PK Siiteri, JF Fraumeni Jr: Relative weight, weight change, height, and breast cancer risk in Asian-American women. J Natl Cancer Inst 88, 650-660 (1996)
49. D Roy, JG Liehr: Temporary decrease in renal quinone reductase activity induced by chronic administration of estradiol to male Syrian hamsters. Increased superoxide formation by redox cyclingof estrogen. J Biol Chem 263, 3646-3651 (1988)
50. NR Bianco, G Perry, MA Smith, DJ Templeton and MM Montano: Functional implications of antiestrogen induction of quinine reductase: inhibition of estrogen-induced deoxyribonucleic acid damage. Mol Endocrinol 17, 1344-1355 (2003)
51. F Zhu, M Loh, J Hill, S Lee, KX Koh, KW Lai, M Salto-Tellez, B Iacopetta, KG Yeoh, R Soong, Singapore Gastric Cancer Consortium: Genetic factors associated with intestinal metaplasia in a high risk Singapore-Chinese population: a cohort study. BMC Gastroenterol 9, 76 (2009)
52. M Hubackova, R Vaclavikova, M Mrhalova, K Kubackova, R Kodet, I Gut and P Soucek: NAD(P)H:quinone oxidoreductase 1 Pro187Ser polymorphism and expression do not cosegregate with clinico-pathological characteristics of human mammary tumors. Pharmacogenet Genomics 19, 505-512 (2009)
53. CCZai, AK Tiwari, V Basile, V de Luca, DJ Müller, AN Voineskos, G Remington, HY Meltzer, JA Lieberman, SG Potkin, JL Kennedy: Oxidative stress in tardive dyskinesia: genetic association study and meta-analysis of NADPH quinine oxidoreductase 1 (NQO1) and Superoxide dismutase 2 (SOD2, MnSOD) genes. Prog Neuropsychopharmacol Biol Psychiatry 34, 50-56 (2010)
54. G R Drummond, H Cai, ME Davis, S Ramasamy, DG Harrison: Transcriptional and posttranscriptional regulation of endothelial nitric oxide synthase expression by hydrogen peroxide. Circ Res 86, 347-354 (2000)
55. L Yao, F Fang, Y Zhong, L Yu: The association between two polymorphisms of eNOS and breast cancer risk: a meta-analysis. Breast Cancer Res Treat 124, 223-227 (2010)
56. D Conen, RJ Glynn, JE Buring, PM Ridker, RY Zee: Renin-angiotensin and endothelial nitric oxide synthase gene polymorphisms are not associated with the risk of incident type 2 diabetes mellitus: a prospective cohort study. J Intern Med 263, 376-385 (2008)
57. M Toriello, A Oterino, J Pascual, J Castillo, R Colás, A Alonso-Arranz, C Ruiz-Alegría, E Quintela, F Montón, N Ruiz-Lavilla: Lack of association of endothelial nitric oxide synthase polymorphisms and migraine. Headache 48, 1115-1119 (2008)
58. E Alp, S Menevse, M Tulmac, D Kan, R Yalcin, AF Erkan, A Cengel: Lack of association between matrix metalloproteinase-9 and endothelial nitric oxide synthase gene polymorphisms and coronary artery disease in Turkish population. DNA Cell Biol 28, 343-350 (2009)
59. B Piguet, JA Wells, IB Palmvang, R Wormald, IH Chisholm, AC Bird: Age-related Bruch's membrane change: a clinical study of the relative role of heredity and environment. Br J Ophthalmol 77, 400-403 (1993)
60. LG Hyman, AM Lilienfeld, FLD Ferris, SL Fine: Senile macular degeneration: a case-control study. Am J Epidemiol;118, 213-227 (1983)
61. JM Seddon, UA Ajani, BD Mitchell: Familial aggregation of age-related maculopathy. Am J Ophthalmol 123, 199-206 (1997)
62. G Silvestri, PB Johnston, AE Hughes: Is genetic predisposition an important risk factor in age-related macular degeneration? Eye 8, 564-568 (1994)
63. CC Klaver, RC Wolfs, JJ Assink, CM van Duijn, A Hofman, PT de Jong: Genetic risk of age-related maculopathy. Population-based familial aggregation study. Arch Ophthalmol 116, 1646-1651 (1998)
64. W Smith, P Mitchell: Family history and age-related maculopathy: the Blue Mountains Eye Study. Aust N Z J Ophthalmol 26, 203-206 (1998)
65. L Hyman, R Neborsky: Risk factors for age-related macular degeneration: an update. Curr Opin Ophthalmol 13, 171-175 (2002)
66. SC Tomany, JJ Wang, R Van Leeuwen, R Klein, P Mitchell, JR Vingerling, BE Klein, W Smith, PT De Jong: Risk factors for incident age-related macular degeneration: pooled findings from 3 continents. Ophthalmology 11, 1280-1287 (2004)
67. H Busch, T Vinding, M la Cour, GB Jensen, JU Prause, NV Nielsen: Risk factors for age-related maculopathy in 14- year follow-up study: the Copenhagen City Eye Study. Acta Ophthalmol Scand 83, 409-418 (2005)
68. SS Dhubhghaill, MT Cahill, M Campbell, L Cassidy, MM Humphries, P Humphries: The pathopysiology of cigarette smoking and age-related macular degeneration. Adv Exp Med Biol 664, 437-446 (2010)