Association of -77T>C and Arg194trp polymorphisms of XRCC1 with risk of coronary artery diseases in Iranian population

Document Type : Original Article

Authors

1 Department of Genetics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran

2 Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran

Abstract

Objective(s): Coronary artery disease (CAD) is the leading cause of death in both male and female worldwide. The main cause of CAD is the atherosclerosis of coronary arteries, which is, mostly caused by genetic alteration. 50% of such cases occur in mitotic cells where single-strand breaks occur spontaneously or due to ionizing radiation. X-ray repair cross-complementing protein 1 (XRCC1) as a key element, participate in the base excision repair (BER) and Single-strand Break Repair (SSBR) pathways. It has been suggested that XRCC1 functions as a scaffold protein able to coordinate and facilitate the various steps of DNA repair pathways. Two Single Nucleotide Polymorphisms (SNPs) (Arg194Trp and -77T>C) were reported to affect the function and expression of XRCC1, respectively.
Materials and Methods:A case-control study was performed to investigate the relation between these polymorphisms and the CAD development. A population of 406 individuals was screened for SNPs by Restriction Fragment Length Polymorphisms (RFLP) method.
Results: XRCC1 Arg194Trp polymorphism was associated with increased risk of CAD in examined population under a dominant model (Odds-ratio=2.604, P-value=0.001). Also the SNP of -77T>C revealed a protective role in the population under a dominant model (Odds-ratio=0.618, P-value=0.032).
Conclusion:Our findings demonstrated a contributory role of these two SNPs in CAD. Furthermore, our results support the role of DNA damages and the malfunctions of DNA repair system in cardiovascular disease development in Iranian patients.

Keywords

References

1. Weber C, Noels H. Atherosclerosis: current pathogenesis and therapeutic options. Nat Med 2011; 17: 1410-1422.
2. Grech ED. ABC of interventional cardiology: Pathophysiology and investigation of coronary artery disease. BMJ 2003;  326: 1027.
3. Saade S,Cazier J-B,Ghassibe-Sabbagh M,Youhanna S,Badro D A,Kamatani Y, et al. Large scale association analysis identifies three susceptibility loci for coronary artery disease. PloS one 2011;  6: e29427.
4. Thaker AM, Frishman WH. Sortilin The Mechanistic Link Between Genes, Cholesterol, and Coronary Artery Disease. Cardiol Rev 2014; 22: 91-96.
5. Woestijne AP, Graaf Y, Bakker PI, Asselbergs FW, Borst GJ, Algra A, et al. LDL-c-linked SNPs are associated with LDL-c and myocardial infarction despite lipid-lowering therapy in patients with established vascular disease. Eur J Clin Invest 2014; 44: 184-191.
6.  Martinelli N, Girelli D, Lunghi B, Pinotti M, Marchetti G, Malerba G, et al. Polymorphisms at LDLR locus may be associated with coronary artery disease through modulation of coagulation factor VIII activity and independently from lipid profile. Blood  2010; 116: 5688-5697.
7. Yoshino S, Cilluffo R, Best PJ, Atkinson EJ, Aoki T, Cunningham JM, et al. Single nucleotide polymorphisms associated with abnormal coronary microvascular function. Coron Artery Dis 2014; 25: 281-289.
8. Ziaee S, Kalayinia S, Boroumand MA, Pourgholi L, Cheraghi S, Anvari MS, et al.  Association between the atrial natriuretic peptide rs5065 gene polymorphism and the presence and severity of coronary artery disease in an Iranian population. Coron Artery Dis 2014; 25: 242-246.
9. Guven M, Guven G S, 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.
10. Mahmoudi M, Mercer J, Bennett M. DNA damage and repair in atherosclerosis. Cardiovasc Res 2006: 71: 259-68.
11. Gray K, Bennett M. Role of DNA damage in atherosclerosis--bystander or participant? Biochem Pharmacol 2011; 82: 693-700.
12. Botto N, Rizza A, Colombo M, Mazzone A, Manfredi S, Masetti S, et al. Evidence for DNA damage in patients with coronary artery disease. Mutat Res 2001 493: 23-30.
13. Cooke MS, Evans MD, Dizdaroglu M, Lunec J.  Oxidative DNA damage: mechanisms, mutation, and disease. FASEB J 2003; 17: 1195-1214.
14. Mondal NK, Sorensen E, Hiivala N, Feller E, Griffith B, Wu ZJ. Oxidative stress, DNA damage and repair in heart failure patients after implantation of continuous flow left ventricular assist devices. Int J Med Sci 2013; 10: 883-893.
15. 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.
16. Mohazzab K, Kaminski PM, Wolin MS.  NADH oxidoreductase is a major source of superoxide anion in bovine coronary artery endothelium. Am J Physiol 1994;  266: H2568-H2572.
17. Griendling KK, Minieri CA, Ollerenshaw JD, Alexander RW.  Angiotensin II stimulates NADH and NADPH oxidase activity in cultured vascular smooth muscle cells. Circ Res 1994; 74: 1141-1148.
18. Williams GM, Jeffrey AM. Oxidative DNA damage: endogenous and chemically induced. Regul Toxicol Pharmacol 2000; 32: 283-292.
19. Behmanesh m, Sakumi K, Abolhassani N, Toyokuni S., Oka S, Ohnishi YN, Tsuchimoto D, Nakabeppu Y. ITPase-deficient mice show growth retardation and die before weaning. Cell death Differ 2009; 16: 1315-1322.
20. Michalik V, Maurizot M, SCharlier M. Calculation of hydroxyl radical attack on different forms of DNA. J Biomol Struct Dyn 1994; 13: 565-575.
21. Ahmadi A, Behmanesh M, Boroumand MA, Tavallaei M. Up-regulation of MSH2, XRCC1 and ATM genes in patients with type 2 diabetes and coronary artery disease. Diabetes Res Clin Pract 2015; 109: 500-506.
22. Wood RD, Mitchell M, Sgouros J, Lindahl T. Human DNA repair genes. Science 2001;  291: 1284-1299.
23. Nazarkina ZK, Khodyreva SN, Marsin S, Lavrik OI, Radicella JP. XRCC1 interactions with base excision repair DNA intermediates. DNA Repair 2007; 6: 254-264.
24. Brem R, Hall J. XRCC1 is required for DNA single-strand break repair in human cells. Nucleic Acids Res 2005; 33: 2512-2520.
25. Tebbs RS, Flannery ML, Meneses JJ, Hartmann A, Tucker JD, Thompson LH, et al. Requirement for the Xrcc1 DNA Base Excision Repair Gene during Early Mouse Development. Dev Biol 1999; 208: 513-529.
26. Mohamadynejad P, Saadat M. Genetic polymorphisms of XRCC1 (at codons 194 and 399) in Shiraz population (Fars province, southern Iran). Mol Biol Rep 2008; 35: 669-672.
27. Hao B, Miao X, Li Y, Zhang X, Sun T, Liang G, et al.A novel T-77C polymorphism in DNA repair gene XRCC1 contributes to diminished promoter activity and increased risk of non-small cell lung cancer. Oncogene 2006; 25: 3613-3620.
28. Stephens M, Smith NJ, Donnelly P.  A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001; 68: 978-989.
29.  Stephens M, Scheet P. Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation. Am J Hum Genet 2005; 76: 449-462.
30. Andreassi M, Botto N, Colombo M, Biagini A, Clerico A. Genetic instability and atherosclerosis: can somatic mutations account for the development of cardiovascular diseases? Environ Mol Mutage 2000;  35: 265-269.
31.  Andreassi MG. Coronary atherosclerosis and somatic mutations: an overview of the contributive factors for oxidative DNA damage. Mutat Res 2003; 543: 67-86.
32. Tousoulis D, Kampoli AM, Stefanadis C.  Diabetes mellitus and vascular endothelial dysfunction: current perspectives. Curr Vas Pharmacol 2012;  10: 19-32.
33. Paschalaki KE, Starke RD, Hu Y, Mercado N, Margariti A, Gorgoulis VG, et al. Dysfunction of endothelial progenitor cells from smokers and chronic obstructive pulmonary disease patients due to increased DNA damage and senescence. Stem Cells 2013; 31: 2813-2826.
34. Kaya Y, Ari E, Demir H, Soylemez N, Cebi A, Alp H, et al. Accelerated atherosclerosis in haemodialysis patients; correlation of endothelial function with oxidative DNA damage. Nephrol Dial Transplant 2012; 27: 1164-1169.
35.  Morrell CN. Reactive oxygen species: finding the right balance. Circ Res 2008;  103: 571-572.
36. Banerjee M,Vats P.  Reactive metabolites and antioxidant gene polymorphisms in Type 2 diabetes mellitus. Redox Biol 2014;  2: 170-177.
37. Thompson LH, West MG. XRCC1 keeps DNA from getting stranded. Mutat Res 2000; 459: 1-18.
38. Audebert M, Salles B, Calsou P. Involvement of poly (ADP-ribose) polymerase-1 and XRCC1/DNA ligase III in an alternative route for DNA double-strand breaks rejoining. JBC 2004; 279: 55117-55126.
39.  Hu Z, Ma H, Chen F, Wei Q, Shen H.  XRCC1 polymorphisms and cancer risk: a meta-analysis of 38 case-control studies. Cancer Epidemiol Biomarkers  Prev 2005; 14: 1810-1818.
40.  Zhang Y, Wang Y, Wu J, Li LJ. XRCC1 Arg194Trp polymorphism is associated with oral cancer risk: evidence from a meta-analysis. Tumour Biol 2013; 34: 2321-2327.
41. Fang Z, Chen F, Wang X, Yi S, Chen W, Ye G. XRCC1 Arg194Trp and Arg280His polymorphisms increase bladder cancer risk in asian population: evidence from a meta-analysis. PloS one 2013; 8: e64001.
42. Ünal M, Güven M, Batar B, Özaydın A, Sarici A, Devranoğlu K. Polymorphisms of DNA repair genes XPD and XRCC1 and risk of cataract development. Exp Eye Res 2007;  85: 328-334.
43.  Ladiges W, Wiley J, MacAuley A. Polymorphisms in the DNA repair gene XRCC1 and age-related disease. Mech Ageing Dev 2003; 124: 27-32.
44. Vodicka P, Stetina R, Polakova V, Tulupova E, Naccarati A, Vodickova L, et al. Association of DNA repair polymorphisms with DNA repair functional outcomes in healthy human subjects. Carcinogenesis 2007; 28: 657-664.
45. Bazo AP, Salvadori JrD, Salvadori RA, Sodré LP, da Silva GN, de Camargo EA, et al. DNA repair gene polymorphism is associated with the genetic basis of atherosclerotic coronary artery disease. Cardiovas Pathol 2011; 20:  e9-e15.
46. Yu X, Liu J, Zhu H, Xia Y, Gao L, Dong Y, et al. Synergistic association of DNA repair relevant gene polymorphisms with the risk of coronary artery disease in northeastern Han Chinese. Thromb Res 2014; 133: 229-234.
47. Dvornyk V, Long JR, Xiong DH, Liu PY, Zhao LJ, Shen H, et al. Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis. BMC genetics 2004;  5: 4.
48. Saber MM, Boroumand MA, Behmanesh M. Investigation of CYP2C19 allele and genotype frequencies in Iranian population using experimental and computational approaches. Thromb Res, 2014; 133:272-275.
49. Huang G, Cai S, Wang W, Zhang Q, Liu A. Association between XRCC1 and XRCC3 Polymorphisms with Lung Cancer Risk: A Meta-Analysis from Case-Control Studies. PloS one 2013;  8: e68457.
50. Brem R, Cox DG, Chapot B, Moullan N, Romestaing P, Gerard JP, et al. The XRCC1− 77T→ C variant: haplotypes, breast cancer risk, response to radiotherapy and the cellular response to DNA damage. Carcinogenesis 2006; 27: 2469-2474.
Iranian Journal of Basic Medical Sciences
Volume 19, Issue 2 - Serial Number 2
February 2016
Pages 194-200

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