Asian Pacific Journal of Cancer Prevention

  • 제14권11호
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  • Pages.6779-6782
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  • 2013
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  • 1513-7368(pISSN)
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  • 2476-762X(eISSN)
아시아태평양암예방학회 (Asian Pacific Journal of Cancer Prevention)
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The XRCC1 Arg399Gln Gene Polymorphism and Risk of Colorectal Cancer: a Study in Kashmir

  • 발행 : 2013.11.30
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초록

Background: The DNA repair gene XRCC1 Arg399Gln gene polymorphism has been found to be implicated in the development of various cancers, including colorectal cancer (CRC), in different populations. We aimed to determine any association of this polymorphism with the risk of CRC in Kashmir. Materials and Methods: A total of 120 confirmed cases of CRC and 146 healthy cancer free controls from the Kashmiri population were included in this study. Genotyping was carried out by the polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) method. Results: Genotype frequencies of XRCC1 Arg399Gln observed in controls were 34.2%, 42.5% and 23.3% for GG (Arg/Arg), GA (Arg/Gln), AA( Gln/Gln), respectively, and 28.3%, 66.7% and 5% in cases, with an odds ratio (OR)=5.7 and 95% confidence interval (CI) =2.3-14.1 (p=0.0001). No significant association of Arg399Gln SNP with any clinicopathological parameters of CRC was found. Conclusions: We found the protective role of 399Gln allele against risk to the development of CRC. The XRCC1 heterozygote status appears to be a strong risk factor for CRC development in the Kashmiri population.

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참고문헌

  1. Abdel-Rahman SZ, El-Zein RA (2000). The 399Gln polymorphism in the DNA repair gene XRCCl modulates the genotoxic response induced in human lymphocytes by the tobacco-specific nitrosamine NNK. Cancer Lett, 159, 63-71. https://doi.org/10.1016/S0304-3835(00)00532-2
  2. Abdel-Rahinan SZ, Soliman AS, Bondy ML, et al (2000). Inheritance of the 194Trp and the 399Gln variant alleles of the DNA repair gene XRCC1 are associated with increased risk of early-onset colorectal carcinoma in Egypt. Cancer Lett, 159, 79-86. https://doi.org/10.1016/S0304-3835(00)00537-1
  3. Caldecott KW, Aonfouchi S, Johnson P, Shall S (1996). XRCCl polypeptide interacts with DNA polymerase and possibly poly (ADP-ribose) polymerase, and DNA ligase III is a novel molecular 'nicksensor' in vitro. Nucleic Acids Res, 24, 4387-94. https://doi.org/10.1093/nar/24.22.4387
  4. Caldecott KW, McKeown CK, Tucker JD, Ljungquist S, Thompson LH (1994). An interaction between the mammalian DNA repair protein XRCC1 and DNA ligase III. Mol Cell Biol, 14, 68-76. https://doi.org/10.1128/MCB.14.1.68
  5. Caldecott KW (2003). XRCC1 and DNA strand break repair. DNA Repair (Amst), 2, 955-69. https://doi.org/10.1016/S1568-7864(03)00118-6
  6. Cancer fact and figures for African-Americans 2011-2012.
  7. Chih-Ching Y, Fung-Chang S, Reiping T, Chung RCC, Ling-Ling H (2005). Polymorphisms of the XRCC1, XRCC3, & XPD genes, and colorectal cancer risk: a case-control study in Taiwan. BMC Cancer, 5, 12. https://doi.org/10.1186/1471-2407-5-12
  8. Divine KK, Gilliland FD, Crowell RE, et al (2001). The XRCC1 399 glutamine allele is a risk factor for adenocarcinoma of the lung. Mutat Res, 461, 273-8. https://doi.org/10.1016/S0921-8777(00)00059-8
  9. Duell EJ, Millikan RC, Pittman GS, et al (2001). Polymorphisms in the DNA repair gene XRCC1 and breast cancer. Cancer Epidemiol Biomarkers Prev, 10, 217-22.
  10. Eric JD, John KW, Tsun-Jen C, et al (2000). Polymorphisms in the DNA repair genes XRCC1 and ERCC2 and biomarkers of DNA damage in human blood mononuclear cells. Carcinogenesis, 21, 965-71. https://doi.org/10.1093/carcin/21.5.965
  11. Erich MS, Edward JC, Lei L, et al (1999). Polymorphisms of DNA repair gene XRCC1 in squamous cell carcinoma of the head and neck. Carcinogenesis, 20,2125-9. https://doi.org/10.1093/carcin/20.11.2125
  12. Hisamuddin IM, Yang VW (2006). Molecular Genetics of Colorectal Cancer: An Overview. Curr Colorectal Cancer Rep, 2, 53-9. https://doi.org/10.1007/s11888-006-0002-2
  13. Hong YC, Lee KH, Kim WC, et al (2005). Polymorphisms of XRCC1 gene, alcohol consumption and colorectal cancer. Int J Cancer, 116, 428-32. https://doi.org/10.1002/ijc.21019
  14. Jeon YT, Kim JW, Park NH, et al (2005). DNA repair gene XRCC1 Arg399Gln polymorphism is associated with increased risk of uterine leiomyoma. Human Reproduction, 20, 1586-9. https://doi.org/10.1093/humrep/deh836
  15. Khuroo MS, Zargar SA, Mahajan R, Banday MA (1992). High incidence of oesophageal and gastric cancer in Kashmir in a population with special personal and dietary habits. Gut, 33, 11-5. https://doi.org/10.1136/gut.33.1.11
  16. Krupa R, Blasiak J (2004). An association of polymorphism of DNA repair genes XRCC1 and XRCC3 with colorectal cancer. J Exp Clin Cancer Res, 23, 285-94.
  17. Kubota Y, Nash RA, Klungland A, et al (1996). Reconstitution of DNA base excision-repair with purified human proteins: interaction between DNA polymerase and the XRCC1 protein. EMBO J, 15, 6662-70.
  18. Lei J, Xiao F, Yi B, Jue-Yu Z, Xiao-Yan S (2013). "Association between the XRCC1 Polymorphisms and Glioma Risk: A Meta-Analysis of Case-Control Studies". PLoS ONE, 8, 55597 https://doi.org/10.1371/journal.pone.0055597
  19. Li Y, Marion MJ, Rundle A, Brandt-Rauf PW (2003). A common polymorphism in XRCC1 as a biomarker of susceptibility for chemically induced genetic damage. Biomarkers, 8, 408-14. https://doi.org/10.1080/13547500310001619301
  20. Liu B, Wei J, Zou Z, et al (2007). Polymorphism of XRCC1 predicts overall survival of gastric cancer patients receiving oxaliplatin-based chemotherapy in Chinese population. European J Human Genetics, 15, 1049-53. https://doi.org/10.1038/sj.ejhg.5201884
  21. Lunn RM, Langlois RG, Hsieh LL, Thompson CL, Bell DA (1999). XRCC1 polymorphisms: effects on aflatoxin B1-DNA adducts and glycophorin A variant frequency. Cancer Res, 59, 2557-61.
  22. Mariana CS, David VC, Kimberly DS (2007). DNA repair single-nucleotide polymorphisms in colorectal cancer and their role as modifiers of the effect of cigarette smoking and alcohol in the Singapore Chinese Health Study. Epidemiol Biomarkers Prev, 16, 2363-72. https://doi.org/10.1158/1055-9965.EPI-07-0268
  23. Masson M, Niedergang C, Schreiber V, et al (1998). XRCC1 is specifically associated with poly(ADP-ribose) polymerase and negatively regulates its activity following DNA damage. Mol Cell Biol, 18,3563-71. https://doi.org/10.1128/MCB.18.6.3563
  24. Moullan N, Cox DG, Angele S, et al (2003). Polymorphisms in the DNA Repair Gene XRCC1, Breast Cancer Risk, and Response to Radiotherapy. Cancer Epidemiol Biomarkers Prev, 12, 1168-74.
  25. Olshan AF, Watson MA, Weissler MC, Bell DA (2002). XRCC1 polymorphisms and head and neck cancer. Cancer Lett, 178, 181-6. https://doi.org/10.1016/S0304-3835(01)00822-9
  26. Rybicki BA, Conti DV, Moreira A, et al (2004). DNA Repair Gene XRCC1 and XPD Polymorphisms and Risk of Prostate Cancer. Cancer Epidemiol Biomarkers Prev, 13, 23-9. https://doi.org/10.1158/1055-9965.EPI-03-0053
  27. Seedhouse C, Bainton R, Lewis M, et al (2002). The genotype distribution of the XRCC1 gene indicates a role for base excision repair in the development of therapy-related acute myeloblasticleukemia. Blood, 10, 3761-6.
  28. Shen M, Hung RJ, Brennan P, et al (2003). Polymorphisms of the DNA repair genes XRCC1, XRCC3, XPD, interaction with environmental exposures, and bladder cancer risk in a case-control study in northern Italy. Cancer Epidemiol Biomarkers Prev, 12, 1234-40.
  29. Skjelbred CF, Saebo M, Wallin H, et al (2006). Polymorphisms of the XRCC1, XRCC3 and XPD genes and risk of colorectal adenoma and carcinoma, in a Norwegian cohort: a case control study. BMC Cancer, 6, 67. https://doi.org/10.1186/1471-2407-6-67
  30. Smith TR, Miller MS, Lohinan K, et al (2003). Polymorphisms of XRCC1 and XRCC3 genes and susceptibility to breast cancer. Cancer Lett, 190, 183-90. https://doi.org/10.1016/S0304-3835(02)00595-5
  31. Tebbs RS, Flannery ML, Meneses JJ, et al (1999). Requirement for the XRCC1 DNA base excision repair gene during early mouse development. Dev Biol, 208, 513-29. https://doi.org/10.1006/dbio.1999.9232
  32. Wang Y, Spitz MR, Zhu Y, et al (2003). From genotype to phenotype: correlating XRCC1 polymorphisms with mutagen sensitivity. DNA Repair (Amst), 2, 901-8. https://doi.org/10.1016/S1568-7864(03)00085-5
  33. Wang Y, Yang H, Li H, et al (2009). Association between X-ray repair cross complementing group 1 codon 399 and 194 polymorphisms and lung cancer risk: A meta-analysis. Cancer Let, 285, 134-40. https://doi.org/10.1016/j.canlet.2009.05.005
  34. Wei-Hong D, Zhen-Yu Z, Jun-Gui L, et al (2012). "XRCC1 Arg399Gln Gene Polymorphism and Hepatocellular Carcinoma Risk in the Chinese Han Population: A Metaanalysis" Asian Pac J Cancer Prev, 13, 3601-4. https://doi.org/10.7314/APJCP.2012.13.8.3601

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  3. Association of XRCC1 Arg399Gln Polymorphism with Colorectal Cancer Risk: A HuGE Meta Analysis of 35 Studies vol.16, pp.8, 2015, https://doi.org/10.7314/APJCP.2015.16.8.3285
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