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Association of XPD and XRCC1 Genetic Polymorphisms with Hepatocellular Carcinoma Risk

  • Guo, Lian-Yi (Department of Gastroenterology, The First Affiliated Hospital, Liaoning Medical University) ;
  • Jin, Xu-Peng (Liaoning Medical University) ;
  • Niu, Wei (Department of Gastroenterology, The First Affiliated Hospital, Liaoning Medical University) ;
  • Li, Xiao-Fei (Department of Gastroenterology, The First Affiliated Hospital, Liaoning Medical University) ;
  • Liu, Bao-Hai (Department of Gastroenterology, The First Affiliated Hospital, Liaoning Medical University) ;
  • Wang, Yu-Lin (Hepatobiliary, the Affiliated Hospital, the Armed Police College of Medicine)
  • Published : 2012.09.30

Abstract

Aim: XRCC1 and XPD are two major repair genes involved in nucleotide excision repair (NER), which is reported to be associated with risk of several cancers. We explored the association of XRCC1 and XPD polymorphisms with the risk of HCC. Methods: A total of 410 cases with HCC and 410 health controls were collected. XRCC1 Arg194Trp, XRCC1 Arg399Gln, XPD Lys751Gln and XPD Asp312Asn genotyping was performed by duplex polymerase-chain-reaction with the confronting-two-pair primer (PCR-CTPP) method. Results: XRCC1 194Trp/Trp was strongly significantly associated with an increased risk of HCC cancer when compared with the wide-type genotype (OR=2.26, 95% CI=(1.23-5.38). Individuals carrying the XRCC1 399Gln/Gln showed increased risk of HCC (OR=1.74, 95%CI=1.06-2.74). The XPD 751Gln/Gln and Gln allele genotype were associated with strong elevated susceptibility to HCC (OR=3.51 and 1.42, respectively). Conclusion: These results suggest that polymorphisms in XRCC1 and XPD may have functional significance in risk of HCC.

References

  1. Basso D, Navaglia F, Fogar P, et al (2007). DNA repair pathways and mitochondrial DNA mutations in gastrointestinal carcinogenesis. Clin Chim Acta, 381, 50-5. https://doi.org/10.1016/j.cca.2007.02.020
  2. Benhamou S, Sarasin A (2002). ERCC2/XPD gene polymorphisms and cancer risk. Mutagenesis, 17, 463-9. https://doi.org/10.1093/mutage/17.6.463
  3. Bowen DG, Walker CM (2005). Adaptive immune responses in acute and chronic hepatitis C virus infection. Nature, 436, 946-52. https://doi.org/10.1038/nature04079
  4. Bradbury PA, Kulke MH, Heist RS, et al (2009). Cisplatin pharmacogenetics, DNA repair polymorphisms, and esophageal cancer outcomes. Pharmacogenet Genomics, 19, 613-25. https://doi.org/10.1097/FPC.0b013e32832f3010
  5. Chacko P, Rajan B, Joseph T, et al (2005). Polymorphisms in DNA repair gene XRCC1 and increased genetic susceptibility to breast cancer. Breast Cancer Res Treat, 89, 15-21. https://doi.org/10.1007/s10549-004-1004-x
  6. Cui Z, Yin Z, Li X, et al (2012). Association between polymorphisms in XRCC1 gene and clinical outcomes of patients with lung cancer: a meta-analysis. BMC Cancer, 12, 71. https://doi.org/10.1186/1471-2407-12-71
  7. International Agency for Research on Cancer (2008). Liver cancer incidence and mortality worldwide in 2008. 2011; http://globocan.iarc.fr/factsheets/cancers/liver.asp.
  8. Kiran M, Saxena R, Chawla YK, et al (2009). Polymorphism of DNA repair gene XRCC1 and hepatitis-related hepatocellular carcinoma risk in Indian population. Mol Cell Biochem, 327, 7-13. https://doi.org/10.1007/s11010-009-0035-3
  9. Lavanchy D(2004). Hepatitis B virus epidemiology, disease burden, treatment and current and emerging prevention and control measures. J Viral Hepat, 11, 97-107. https://doi.org/10.1046/j.1365-2893.2003.00487.x
  10. Li QW, Lu CR, Ye M, et al (2012). Evaluation of DNA repair gene XRCC1 polymorphism in prediction and prognosis of hepatocellular carcinoma risk. Asian Pac J Cancer Prev, 13, 191-4. https://doi.org/10.7314/APJCP.2012.13.1.191
  11. Liu Y, Chen H, Chen L, et al (2012). Prediction of genetic polymorphisms of DNA repair genes XRCC1 and XRCC3 in the survival of colorectal cancer receiving chemotherapy in the Chinese population. Hepatogastroenterology, 59, 977-80.
  12. Long XD, Ma Y, Zhou YF, et al (2009). XPD codon 312 and 751 polymorphisms, and AFB1 exposure, and hepatocellular carcinoma risk. BMC Cancer, 9, 400. https://doi.org/10.1186/1471-2407-9-400
  13. Yin M, Yan J, Martinez-Balibrea E, et al(2011). ERCC1 and ERCC2 polymorphisms predict clinical outcomes of oxaliplatin-based chemotherapies in gastric and colorectal cancer: a systemic review and meta-analysis. Clin Cancer Res, 17, 1632-40. https://doi.org/10.1158/1078-0432.CCR-10-2169
  14. Mandal RK, Gangwar R, Kapoor R, et al (2012). Polymorphisms in base-excision & nucleotide-excision repair genes & prostate cancer risk in north Indian population. Indian J Med Res, 135, 64-71. https://doi.org/10.4103/0971-5916.93426
  15. Manuguerra M, Saletta F, Karagas MR, et al (2006). XRCC3 and XPD/ERCC2 single nucleotide polymorphisms and the risk of cancer: a HuGE review. Am J Epidemiol, 164, 297-302. https://doi.org/10.1093/aje/kwj189
  16. Pan HZ, Liang J, Yu Z, et al(2011). Polymorphism of DNA repair gene XRCC1 and hepatocellular carcinoma risk in Chinese population. Asian Pac J Cancer Prev, 12, 2947-50.
  17. Ronen A, Glickman BW (2001). Human DNA repair genes. Environ Mol Mutagen, 37, 241-83. https://doi.org/10.1002/em.1033
  18. Rzeszowska-Wolny J, Polanska J, Pietrowska M, et al (2005). Influence of polymorphisms in DNA repair genes XPD, XRCC1 and MGMT on DNA damage induced by gamma radiation and its repair in lymphocytes in vitro. Radiat Res, 164, 132-40. https://doi.org/10.1667/RR3400
  19. Shen MR, Jones IM, Mohrenweiser H (1998). Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. Cancer Res, 58, 604-8.
  20. Slyskova J, Naccarati A, Pardini B, et al (2012). Differences in nucleotide excision repair capacity between newly diagnosed colorectal cancer patients and healthy controls. Mutagenesis, 27, 225-32. https://doi.org/10.1093/mutage/ger088
  21. Smith TR, Miller MS, Lohman 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
  22. Spitz MR, Wu X, Wang Y, et al (2001). Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients. Cancer Res, 61, 1354-7.
  23. Thompson LH, Brookman KW, Jones NJ, et al (1990). Molecular cloning of the human XRCC1 gene, which corrects defective DNA strand break repair and sister chromatid exchange. Mol Cell Biol, 10, 6160-71.
  24. Tudek B (2007). Base excision repair modulation as a risk factor for human cancers. Mol Aspects Med, 28, 258-75. https://doi.org/10.1016/j.mam.2007.05.003
  25. Yin J, Wang C, Liang D, et al (2012). No evidence of association between the synonymous polymorphisms in XRCC1 and ERCC2 and breast cancer susceptibility among nonsmoking Chinese. Gene, 503, 118-22. https://doi.org/10.1016/j.gene.2012.04.072
  26. Zhang L, Ruan Z, Hong Q, et al (2012). Single nucleotide polymorphisms in DNA repair genes and risk of cervical cancer: A case-control study. Oncol Lett, 3, 351-62.

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