Cardiovascular Pathology
Volume 20, Issue 1 , Pages e9-e15 , January 2011

DNA repair gene polymorphism is associated with the genetic basis of atherosclerotic coronary artery disease

  • Ana Paula Bazo

      Affiliations

    • Department of Pathology, Botucatu Medical School, UNESP, São Paulo State University, São Paulo, SP, Brazil
    • ,
  • Décio Salvadori Jr

      Affiliations

    • Beneficência Portuguesa Hospital, São Paulo, SP, Brazil
    • ,
  • Ricardo A.F. Salvadori

      Affiliations

    • São Luiz Hospital, São Paulo, SP, Brazil
    • ,
  • Luciandro P. Sodré

      Affiliations

    • Department of Pathology, Botucatu Medical School, UNESP, São Paulo State University, São Paulo, SP, Brazil
    • ,
  • Glenda N. da Silva

      Affiliations

    • Department of Pathology, Botucatu Medical School, UNESP, São Paulo State University, São Paulo, SP, Brazil
    • ,
  • Elaine A. de Camargo

      Affiliations

    • Department of Pathology, Botucatu Medical School, UNESP, São Paulo State University, São Paulo, SP, Brazil
    • ,
  • Lúcia R. Ribeiro

      Affiliations

    • Department of Pathology, Botucatu Medical School, UNESP, São Paulo State University, São Paulo, SP, Brazil
    • ,
  • Daisy Maria Fávero Salvadori

      Affiliations

    • Department of Pathology, Botucatu Medical School, UNESP, São Paulo State University, São Paulo, SP, Brazil
    • Corresponding Author InformationCorresponding author. Faculdade de Medicina de Botucatu, UNESP, Rubião Junior, 18618-000 Botucatu, SP, Brazil. Tel.: +55 14 38117263.

Received 13 October 2009 ,Revised 27 November 2009 ,Accepted 18 December 2009.

References 

  1. De Flora S, Izzotti A. Mutagenesis and cardiovascular diseases. Molecular mechanisms, risk factors, and protective factors. Mutat Res. 2007;621:5–17
  2. Ramos KS, Partridge CR, Teneng I. Genetic and molecular mechanisms of chemical atherogenesis. Mutat Res. 2007;621:18–30
  3. Burns DM. Epidemiology of smoking-induced cardiovascular disease. Prog Cardiovasc Dis. 2003;46:11–29
  4. Barua RS, Ambrose JA, Eales-Reynolds LJ, DeVoe MC, Zervas JG, Saha DC. Dysfuctional endothelial nitric oxide biosynthesis in healthy smokers with impaired endothelium-dependent vasodilatation. Circulation. 2001;104:1905–1910
  5. Andreassi MG. Coronary atherosclerosis and somatic mutations: an overview of the contributive factors for oxidative DNA damage. Mutat Res. 2003;543:67–86
  6. Hayes JD, Pulford DJ. The glutathione S-transferase supergene family: regulation of GST and the contribution of the isoenzymes to cancer chemoprotection and drug resistance. Biochem Mol Biol. 1995;30:445–600
  7. Irani K. Oxidant signaling in vascular cell growth, death and survival: a review of the roles of reactive oxygen species in smooth muscle and endothelial cell mitogenic and apoptotic signaling. Circ Res. 2000;87:179–183
  8. Martinet W, Knaapen MWM, De Meyer GRY, Herman AG, Kockx MM. Elevated levels of oxidative DNA damage and DNA repair enzymes in human atherosclerotic plaques. Circulation. 2002;106:927–932
  9. Shan MR, Jones IM, Morenweiser H. Non-conservative amino acid substitution variants exist at polymorphic frequency in DNA repair gene in healthy humans. Cancer Res. 1998;58:604–608
  10. Abdel-Rahman SZ, El-Zein RA, Anwar WA, Au WW. A multiplex procedure for polymorfic analysis of GSTM1 e GSTT1 genes in population studies. Cancer Lett. 1996;107:229–233
  11. Pemble S, Schroeder KR, Spencer SR, Meyer DJ, Hallier E, Bolt HM, et al. Human glutathione S-transferase theta (GSTTI): cDNA cloning and the characterization of a genetic polymorphism. Biotherm J. 1994;300:271–276
  12. Anwar WA, Abdel-Rahman SZ, El-Zein RA, Mostafa HM, Au WW. Genetic polymorphisms of GSTM1, CYP2E1 and CYP2D6 in Egyptian bladder cancer patients. Carcinogenesis. 1996;17:1923–1929
  13. Abdel Rahman SZ, El-Zein RA. The 399Gln polymorphism in the DNA repair gene XRCC1 modulates the genotoxic response induced in human lymphocytes by the tobacco-specific nitrosamine NNK. Cancer Lett. 2000;159:63–71
  14. Zaman AG, Helft G, Worthley SG, Badimon JJ. The role of plaque rupture and thrombosis in coronary artery disease. Atherosclerosis. 2000;149:251–266
  15. Wilson MH, Grant PJ, Hardie LJ, Wild CP. Glutathione S-transferase M1 null genotype is associated with a decreased risk of myocardial infarction. FASEB J. 2000;14:791–796
  16. Shaw LJ, Merz NB, Pepine CJ, Reis SE, Bittner V, Kelsey SF, et al. Insights From the NHLBI-Sponsored Women's Ischemia Syndrome Evaluation (WISE) Study. Part I: Gender Differences in Traditional and Novel Risk Factors, Symptom Evaluation, and Gender-Optimized Diagnostic Strategies. J Am Coll Cardiol. 2006;47:4S–20S
  17. Abu-Amero KK, Al-Boudari OM, Mohamed GH, Dzimiri N. T null and M null genotypes of the gluthatione S-transferase gene are risk factor for CAD independent of smoking. BMC Med Genet. 2006;7:38–44
  18. Andreassi MG, Botto N. DNA damage as a new emerging risk factor in atherosclerosis. Trends Cardiovasc Med. 2003;13:270–275
  19. Murgia E, Maggini V, Barale R, Rossi AM. Micronuclei, genetic polymorphism and cardiovascular disease mortality in a nested case-control study in Italy. Mutat Res. 2007;621:113–118
  20. De Flora S, Izzotti A, Walsh D, Degan P, Petrilli GL, Lewtas J. Molecular epidemiology of atherosclerosis. FASEB J. 1997;11:1021–1031
  21. Yamaguchi Y, Matsuno S, Kagota S, Haginaka J, Kunitomo M. Oxidants in cigarette smoke extract modify low-density lipoprotein in the plasma and facilitate atherogenesis in the aorta of Watanabe heritable hyperlipidemic rabbits. Atherosclerosis. 2001;156:109–117
  22. Yang Z, Harrison CM, Chuang GC, Ballinger SW. The role of tobacco smoke induced mitochondrial damage in vascular dysfunction and atherosclerosis. Mutat Res. 2007;621:61–74
  23. Salama SA, Au WW, Hunter GC, Sheahan RG, Badary OA, Abdel-Naim AB, et al. Polymorphic metabolizing genes and susceptibility to atherosclerosis among cigarette smokers. Environ Mol Mut. 2002;40:153–160
  24. Miller EA, Pankow JS, Millikan RC, Bray MS, Ballantyne CM, Bell DA, et al. Glutathione-S-transferase genotypes, smoking, and their association with markers of inflammation, hemostasis, and endothelial function: the atherosclerosis risk in communities (ARIC) study. Aterosclerosis. 2003;171:265–272
  25. Tamer L, Ercan B, Camsari A, Yilrim H, Çiçek D, Sucu N, et al. Gluthatione S-transferase gene polymorphism as a susceptibility factor in smoking-related coronary artery disease. Basic Res Cardiol. 2004;99:223–229
  26. Waart FG, Kok FG, Smilde TJ, Hijmans A, Wollersheim H, Stalenhoef AF. Effect of glutathione S-transferase M1 genotype on progression of atherosclerosis in lifelong male smokers. Atherosclerosis. 2001;158:227–231
  27. Manfredi S, Federici C, Picano E, Botto N, Rizza A, Andreassi MG. GSTM1, GSTT1 and CYP1A1 detoxification gene polymorphisms and susceptibility to smoking-related coronary artery disease: a case-only study. Mutat Res. 2007;621:106–112
  28. Yamazaki H, Inui Y, Yun CH, Guengerich FP, Shimada T. Cytochrome P-450 2E1 and 2A6 enzymes as a major catalysts for metabolic activation of N-nitrosodialkylamines and tobacco-related nitrosamines in human liver microsomes. Carcinogenesis. 1992;13:1789–1794
  29. Colombo J, Rossit ARB, Caetano A, Borim AA, Wornrath D, Silva AE. GSTT1, GSTM1 and CYP2E1 genetic polymorphism in gastric cancer and chronic gastritis in a Brazilian population. Gastric Cancer. 2004;10:1240–1245
  30. Seidegard J, Vorachek WR, Pero RW, Person WR. Hereditary difference differences in the expression of the human glutathione transferase active on trans-stilbene oxide are due to a gene deletion. Proc Natl Acad Sci U S A. 1988;85:7293–7297
  31. Raunio H, Husgafvel-Pursiainen K, Antilla S, Hietanen E, Hirvonen A, Pelkonen O. Diagnosis of polymorphisms in carcinogen-activating and inactivating enzymes and cancer susceptibility — a review. Gene. 1995;159:113–121
  32. Park JH, El-Sohemy A, Cornelis MC, Kim HA, Kim SY, Bae SC. Glutathione S-transferase M1, T1 and P1 gene polymorphisms and carotid atherosclerosis in Korean patients with rheumatoid arthritis. Rheumatol Int. 2004;24:157–163
  33. Girisha KM, Gilmour A, Mastana S, Singh VP, Sinha N, Tewari S, et al. T1 and M1 polymorphisms in gluthatione S-transferase gene and coronary artery disease in North Indian populations. Indian J Med Sci. 2004;58:520–526
  34. Benditt EP, Benditt JM. Evidence for a monoclonal origin of human atherosclerotic plaques. Proc Natl Acad Sci U S A. 1973;70:1753–1756
  35. Izzotti A, De Flora S, Petrille GL, Gallagher J, Rojas M, Alexandrov K, et al. Cancer biomarkers in human atherosclerotic lesions: detection of DNA adducts. Cancer Epidemiol Biomark Prev. 1995;4:105–110
  36. Van Schooten FJ, Hirvonen A, Maas LM, De Mol BA, Kleinjans JC, Bell DA, et al. Putative susceptibility markers of coronary artery disease: association between VDR genotype, smoking, and aromatic DNA adduct levels in human right atrial tissue. FASEB J. 1998;12:1409–1417
  37. Demirbag R, Yilmaz R, Kocyigit A. Relationship between DNA damage, total antioxidant capacity and coronary artery disease. Mutat Res. 2005;570:197–203
  38. Murgia E, Maggini V, Barale R, Rossi AM. Micronuclei, genetic polymorphisms and cardiovascular disease mortality in a nested case-control study in Italy. Mutat Res. 2007;621:113–118
  39. Shen MR, Jones IM, Mohrenweiser H. Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. Cancer Res. 1998;58:604–608
  40. Ladiges W, Wiley J, MacAuley A. Polymorphisms in DNA repair gene XRCC1 and age-related disease. Mech Ageing Dev. 2003;124:27–32
  41. Guven M, Guven GS, Oz E, Ozaydin A, Batar B, Ulutin T, et al. DNA repair gene XRCC1 and XPD polymorphisms and their association with coronary artery disease risks and micronucleus frequency. Heart Vessels. 2007;22:355–360
  42. Lunn R, Langlois RG, Hsieh LL, Thompson CL, Bell DA. XRCC1 polymorphisms: effects on aflatoxin B1-DNA adducts and Glycophorin A variant frequency. Cancer Res. 1999;59:2557–2561
  43. Lei YC, Hwang SJ, Chang CC, Kuo HW, Luo JC, Chang MJ, et al. Effects on sister chromatid exchange frequency of polymorphisms in DNA repair gene XRCC1 in smokers. Mutat Res. 2002;519:93–101
  44. Asami S, Manabe H, Miyake J, Tsurudome Y, Hirano T, Yamaguchi R, et al. Cigarette smoking induces an increase in oxidative DNA damage, 8-hydroxydeoxyguanosine, in a central site of the human lung. Carcinogenesis. 1997;18:1763–1766
  45. Wiencke JK. DNA adduct burden and tobacco carcinogenesis. Oncogene. 2002;21:7376–7391
  46. Weng H, Weng Z, Lu Y, Nakayama K, Morimoto K. Effects of cigarette smoking, XRCC1 genetic polymorphisms, and age on basal DNA damage in human blood mononuclear cells. Mutat Res. 2009;679:59–64
  47. Hung RJ, Hall J, Brennan P, Boffetta P. Genetic polymorphisms in the base excision repair pathway and cancer risk: a HuGE review. Am J Epidemiol. 2005;162:925–942
  48. Lao T, Gu W, Huang Q. A meta-analysis on XRCC1 R399Q and R194Wpolymorphisms, smoking and bladder cancer risk. Mutagenesis. 2008;23:523–532
  49. Rossit ARB, Cabral IR, Hackel C, Silva RCMA, Froes NDTC, Abdel-Rahman SZ. Polymorphisms in the DNA repair gene XRCC1 and susceptibility to alcoholic liver cirrhosis in older Southeastern Brazilians. Cancer Lett. 2002;180:173–182

PII: S1054-8807(09)00156-2

doi: 10.1016/j.carpath.2009.12.004

Cardiovascular Pathology
Volume 20, Issue 1 , Pages e9-e15 , January 2011

Article Tools