Leukemia Research
Volume 34, Issue 10 , Pages 1275-1281 , October 2010

DNA repair XRCC1 Arg399Gln polymorphism alone, and in combination with CYP2E1 polymorphisms significantly contribute to the risk of development of childhood acute lymphoblastic leukemia

  • Tugba Boyunegmez Tumer

      Affiliations

    • Biochemistry Graduate Programme and Department of Biological Sciences, Middle East Technical University, 06531 Ankara, Turkey
    • Vocational School of Health Services, Çanakkale Onsekiz Mart University, 17100, Çanakkale, Turkey
    • Corresponding Author InformationCorresponding author. Current address: Vocational School of Health Services, Çanakkale Onsekiz Mart University, 17100 Çanakkale, Turkey. Tel.: +90 286 2171001; fax: +90 286 2128804.
    • ,
  • Duygu Yilmaz

      Affiliations

    • Biochemistry Graduate Programme and Department of Biological Sciences, Middle East Technical University, 06531 Ankara, Turkey
    • ,
  • Cihan Tanrikut

      Affiliations

    • Biochemistry Graduate Programme and Department of Biological Sciences, Middle East Technical University, 06531 Ankara, Turkey
    • ,
  • Gurses Sahin

      Affiliations

    • Department of Oncology, Dr. Sami Ulus Children's Hospital, Ankara, Turkey
    • ,
  • Gulen Ulusoy

      Affiliations

    • Biochemistry Graduate Programme and Department of Biological Sciences, Middle East Technical University, 06531 Ankara, Turkey
    • Department of Chemistry, College of Sciences, Koç University, Istanbul, Turkey
    • ,
  • Emel Arinç

      Affiliations

    • Biochemistry Graduate Programme and Department of Biological Sciences, Middle East Technical University, 06531 Ankara, Turkey

Received 15 October 2009 ,Revised 19 February 2010 ,Accepted 27 February 2010.

References 

  1. Linet MS, Ries LA, Smith MA, Tarone RE, Devesa SS. Cancer surveillance series: recent trends in childhood cancer incidence and mortality in the United States. J Natl Cancer Inst. 1999;91:1051–1058
  2. Ross JA, Davies SM, Potter JD, Robison LL. Epidemiology of childhood leukemia, with a focus on infants. Epidemiol Rev. 1994;16:243–272
  3. McKinney PA, Alexander FE, Cartwright RA, Parker L. Parental occupations of children with leukaemia in west Cumbria, north Humberside, and Gateshead. BMJ. 1991;302:681–687
  4. UK Childhood Cancer Study Investigators. Parental occupation at periconception: findings from the United Kingdom Childhood Cancer Study. Occup Environ Med. 2003;60:901–909
  5. Arinç E, Sen A. Effects of in vivo benzo (a)pyrene treatment on liver microsomal mixed-function oxidase activities of gilthead seabream (Sparus aurata). Comp Biochem Physiol Pharmacol Toxicol Endocrinol. 1994;107(3):405–414
  6. Johansson I, Ingelman-Sundberg M. Benzene metabolism by ethanol-, acetone-, and benzene-inducible cytochrome P-450 (IIE1) in rat and rabbit liver microsomes. Cancer Res. 1988;48:5387–5390
  7. Arinç E, Adali O, Gencler-Ozkan AM. Induction of N-nitrosodimethylamine metabolism in liver and lung by in vivo pyridine treatments of rabbits. Arch Toxicol. 2000;74:329–334
  8. Arinç E, Arslan S, Adali O. Differential effects of diabetes on CYP2E1 and CYP2B4 proteins and associated drug metabolizing enzyme activities in rabbit liver. Arch Toxicol. 2005;79:427–433
  9. Arinç E, Arslan S, Bozcaarmutlu A, Adali O. Effects of diabetes on rabbit kidney and lung CYP2E1 and CYP2B4 expression and drug metabolism and potentiation of carcinogenic activity of N-nitrosodimethylamine in kidney and lung. Food Chem Toxicol. 2007;45:107–118
  10. Shen MR, Jones LM, Mohrenweiser H. Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. Cancer Res. 1998;58:604–608
  11. Berwick M, Vineis P. Markers of DNA repair and susceptibility to cancer in humans: an epidemiologic review. J Natl Cancer Inst. 2000;92:874–897
  12. Caldecott KW, Aoufouchi S, Johnson P, Shall S. XRCC1 polypeptide interacts with DNA polymerase β and possibly poly (ADP-ribose) polymerase, and DNA ligase III is a novel molecular ‘nick-sensor’ in vitro. Nucleic Acids Res. 1996;24:4387–4394
  13. Masson M, Niedergang C, Schreiber V, Muller S, Menissier-de Murcia J, de Murcia G. XRCC1 is specifically associated with poly (ADP-ribose) polymerase and negatively regulates its activity following DNA damage. Mol Cell Biol. 1998;18:3563–3571
  14. Whitehouse CJ, Taylor RM, Thistlethwaite A, Zhang H, Karimi-Busheri F, Lasko DD, et al. XRCC1 stimulates human polynucleotide kinase activity at damaged DNA termini and accelerates DNA single-strand break repair. Cell. 2001;104:107–117
  15. Vidal AE, Boiteux S, Hickson ID, Radicella JP. XRCC1 coordinates the initial and late stages of DNA abasic site repair through protein–protein interactions. EMBO J. 2001;20:6530–6539
  16. Lindahl T, Wood RD. Quality control by DNA repair. Science. 1999;286:1897–1905
  17. Sak SC, Barrett JH, Paul AB, Bishop DT, Kiltie AE. DNA repair gene XRCC1 polymorphisms and bladder cancer risk. BMC Genet. 2007;8:13
  18. Lunn RM, 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(11):2557–2561
  19. Zhang X, Moréra S, Bates PA, Whitehead PC, Coffer AI, Hainbucher K, et al. Structure of an XRCC1 BRCT domain: a new protein–protein interaction module. EMBO J. 1998;17(21):6404–6411
  20. 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(1):63–71
  21. Park JY, Lee SY, Jeon HS, Bae NC, Chae SC, Joo S, et al. Polymorphism of the DNA repair gene XRCC1 and risk of primary lung cancer. Cancer Epidemiol Biomarkers Prev. 2002;1:23–27
  22. Chacko P, Rajan B, Joseph T, Mathew BS, Pillai MR. Polymorphisms in DNA repair gene XRCC1 and increased genetic susceptibility to breast cancer. Breast Cancer Res Treat. 2005;89(1):15–21
  23. Xu Z, Qian LX, Hua LX, Wang XR, Yang J, Zhang W, et al. Relationship between DNA repair gene XRCC1 Arg399Gln polymorphism and susceptibility to prostate cancer in the Han population in Jiangsu and Anhui. Zhonghua Nan Ke Xue. 2007;13(4):327–331
  24. Wang Y, Spitz MR, Zhu Y, Dong Q, Shete S, Wu X. From genotype to phenotype: correlating XRCC1 polymorphisms with mutagen sensitivity. DNA Repair (Amst). 2003;2:901–908
  25. 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(10):925–942
  26. Sturgis EM, Castillo EJ, Li L, Zheng R, Eicher SA, Clayman GL, et al. Polymorphisms of DNA repair gene XRCC1 in squamous cell carcinoma of the head and neck. Carcinogenesis. 1999;20:2125–2129
  27. Shen H, Xu Y, Qian Y, Yu R, Qin Y, Zhou L, et al. Polymorphisms of the DNA repair gene XRCC1 and risk of gastric cancer in a Chinese population. Int J Cancer. 2000;88:601–606
  28. Stern MC, Umbach DM, van-Gils CH, Lunn RM, Taylor JA. DNA repair gene XRCC1 polymorphisms, smoking, and bladder cancer risk. Cancer Epidemiol Biomarkers Prev. 2001;10:125–131
  29. Joseph T, Kusumakumary P, Chacko P, Abraham A, Pillai MR. DNA repair gene XRCC1 polymorphisms in childhood acute lymphoblastic leukemia. Cancer Lett. 2005;217(1):17–24
  30. Pakakasama S, Sirirat T, Kanchanachumpol S, Udomsubpayakul U, Mahasirimongkol S, Kitpoka P, et al. Genetic polymorphisms and haplotypes of DNA repair genes in childhood acute lymphoblastic leukemia. Pediatr Blood Cancer. 2007;48(1):16–20
  31. Batar B, Güven M, Bariş S, Celkan T, Yildiz I. DNA repair gene XPD and XRCC1 polymorphisms and the risk of childhood acute lymphoblastic leukemia. Leuk Res. 2009;33(6):759–763
  32. Ulusoy G, Adali O, Tumer TB, Sahin G, Gozdasoglu S, Arinç E. Significance of genetic polymorphisms at multiple loci of CYP2E1 in the risk of development of childhood acute lymphoblastic leukemia. Oncology. 2007;72(1–2):125–131
  33. Tumer TB, Ulusoy G, Adali O, Sahin G, Gozdasoglu S, Arinç E. The low frequency of defective TPMT alleles in Turkish population: a study on pediatric patients with acute lymphoblastic leukemia. Am J Hematol. 2007;82(10):906–910
  34. Lahiri D, Schnabel B. DNA isolation by a rapid method from human blood samples: Effects of MgCl2, EDTA, storage time, and temperature on DNA yield and quality. Biochem Genet. 1993;31:321–328
  35. Xing D, Qi J, Miao X, Lu W, Tan W, Lin D. Polymorphisms of DNA repair Genes XRCC1 and XPD and their associations with risk of esophageal squamous cell carcinoma in a Chinese population. Int J Cancer. 2002;100(5):600–605
  36. Krajinovic M, Labuda D, Richer C, Karimi S, Sinnett D. Susceptibility to childhood acute lymphoblastic leukemia: influence of CYP1A1, CYP2D6, GSTM1, and GSTT1 genetic polymorphisms. Blood. 1999;93(5):1496–1501
  37. Rollinson S, Roddam P, Kane E, Roman E, Cartwright R, Jack A, et al. Polymorphic variation within the glutathione S-transferase genes and risk of adult acute leukaemia. Carcinogenesis. 2000;1:43–47
  38. Joseph T, Kusumakumary P, Chacko P, Abraham A. Radhakrishna Pillai M. Genetic polymorphism of CYP1A1, CYP2D6, GSTM1 and GSTT1 and susceptibility to acute lymphoblastic leukaemia in Indian children. Pediatr Blood Cancer. 2004;43(5):560–567
  39. Ross D. Functions and distribution of NQO1 in human bone marrow: potential clues to benzene toxicity. Chem Biol Interact. 2005;153–154:137–146
  40. Parke DV. Activation mechanisms to chemical toxicity. Arch Toxicol. 1987;60:5–15
  41. Parke DV. The cytochromes P450 and mechanisms of chemical carcinogenesis. Environ Health Perspect. 1994;102:852–853
  42. Ioannides C, Lewis DFV, Parke DV. Mechanisms of chemical carcinogenesis and molecular parametric analyis in the safety evaluation of chemicals. In:  Ioannides C,  Lewis DFV editor. Drugs, Diet and Disease. vol. 1:Chichester: Ellis Horwood Publishers; 1995;p. 147–160
  43. Hoeijmakers JHJ. Genome maintenance mechanisms for preventing cancer. Nature. 2001;411:366–374
  44. Garte S, Gaspari L, Alexandrie AK, Ambrosone C, Autrup H, Autrup JL, et al. Metabolic gene polymorphism frequencies in control populations. Cancer Epidemiol Biomarkers Prev. 2001;12:1239–1248
  45. Ulusoy G, Arinç E, Adali O. Genotype and allele frequencies of polymorphic CYP2E1 in the Turkish population. Arch Toxicol. 2007;10:711–718
  46. Vural P, Değirmencioğlu S, Doğru-Abbasoğlu S, Saral NY, Akgül C, Uysal M. Genetic polymorphisms in DNA repair gene APE1, XRCC1 and XPD and the risk of pre-eclampsia. Eur J Obstet Gynecol Reprod Biol. 2009;146(2):160–164
  47. Harth V, Schafer M, Abel J, Maintz L, Neuhaus T, Besuden M, et al. Head and neck squamous-cell cancer and its association with polymorphic enzymes of xenobiotic metabolism and repair. J Toxicol Environ Health A. 2008;71(13–14):887–897
  48. Coppede F, Migheli F, Lo Gerfo A, Fabbrizi MR, Carlesi C, Mancuso M, et al. Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2009;25:1–3
  49. Lee SG, Kim B, Choi J, Kim C, Lee I, Song K. Genetic polymorphisms of XRCC1 and risk of gastric cancer. Cancer Lett. 2002;187:53–60

PII: S0145-2126(10)00118-9

doi: 10.1016/j.leukres.2010.02.035

Leukemia Research
Volume 34, Issue 10 , Pages 1275-1281 , October 2010

Article Tools

* Image Usage & Resolution