DOI QR코드

DOI QR Code

Single Nucleotide Polymorphisms of DNA Base-excision Repair Genes (APE1, OGG1 and XRCC1) Associated with Breast Cancer Risk in a Chinese Population

  • Luo, Hao (Cancer Center, Daping Hospital and Research Institute of Surgery, Third Military Medical University) ;
  • Li, Zheng (Cancer Center, Daping Hospital and Research Institute of Surgery, Third Military Medical University) ;
  • Qing, Yi (Cancer Center, Daping Hospital and Research Institute of Surgery, Third Military Medical University) ;
  • Zhang, Shi-Heng (Cancer Center, Daping Hospital and Research Institute of Surgery, Third Military Medical University) ;
  • Peng, Yu (Cancer Center, Daping Hospital and Research Institute of Surgery, Third Military Medical University) ;
  • Li, Qing (Cancer Center, Daping Hospital and Research Institute of Surgery, Third Military Medical University) ;
  • Wang, Dong (Cancer Center, Daping Hospital and Research Institute of Surgery, Third Military Medical University)
  • Published : 2014.02.01

Abstract

Altered DNA repair capacity can result in increased susceptibility to cancer. The base excision repair (BER) pathway effectively removes DNA damage caused by ionizing radiation and reactive oxidative species (ROS). In the current study, we analyzed the possible relation of polymorphisms in BER genes, including 8-oxoguanine DNA glycosylase (OGG1), apurinic/apyrimidinic endonuclease 1 (APE1), and X-ray repair cross-complementing group 1 protein (XRCC1), with breast cancer risk in Chinese Han women. This case-control study examined 194 patients with breast cancer and 245 cancer-free hospitalized control subjects. Single nucleotide polymorphisms (SNPs) of OGG1 (Ser326Cys), XRCC1 (Arg399Gln), and APE1 (Asp148Glu and -141T/G) were genotyped and analyzed for their association with breast cancer risk using multivariate logistic regression models. We found that XRCC1 Arg399Gln was significantly associated with an increased risk of breast cancer. Similarly, the XRCC1 Gln allele was significantly associated with an elevated risk in postmenopausal women and women with a high BMI (${\geq}24kg/m^2$). The OGG1 Cys allele provided a significant protective effect against developing cancer in women with a low BMI (< $24kg/m^2$). When analyzing the combined effects of these alleles on the risk of breast cancer, we found that individuals with ${\geq}2$ adverse genotypes (XRCC1 399Gln, APE1 148Asp, and OGG1 326Ser) were at a 2.18-fold increased risk of breast cancer (P = 0.027). In conclusion, our data indicate that Chinese women with the 399Gln allele of XRCC1 have an increased risk of breast cancer, and the combined effects of polymorphisms of BER genes may contribute to tumorigenesis.

Keywords

References

  1. Ando K, Hirao S, Kabe Y, et al (2008). A new APE1/Ref-1-dependent pathway leading to reduction of NF-kappaB and AP-1, and activation of their DNA-binding activity. Nucleic Acids Res, 36, 4327-36. https://doi.org/10.1093/nar/gkn416
  2. Baute J, Depicker A (2008). Base excision repair and its role in maintaining genome stability. Crit Rev Biochem Mol Biol, 43, 239-76. https://doi.org/10.1080/10409230802309905
  3. Campalans A, Marsin S, Nakabeppu Y, et al (2005). XRCC1 interactions with multiple DNA glycosylases: a model for its recruitment to base excision repair. DNA Repair (Amst)., 4, 826-35. https://doi.org/10.1016/j.dnarep.2005.04.014
  4. Dalhus B, Laerdahl JK, Backe PH, Bjoras M (2009). DNA base repair--recognition and initiation of catalysis. FEMS Microbiol Rev, 33, 1044-78. https://doi.org/10.1111/j.1574-6976.2009.00188.x
  5. Dumitrescu RG, Cotarla I (2005). Understanding breast cancer risk- where do we stand in 2005? J Cell Mol Med, 9, 208-21. https://doi.org/10.1111/j.1582-4934.2005.tb00350.x
  6. Goode EL, Ulrich CM, Potter JD (2002). Polymorphisms in DNA repair genes and associations with cancer risk. Cancer Epidemiol Biomarkers Prev, 11, 1513-30.
  7. Gu D, Wang M, Zhang Z, Chen J (2010). Lack of association between the hOGG1 Ser326Cys polymorphism and breast cancer risk: evidence from 11 case-control studies. Breast Cancer Res Treat, 122, 527-31. https://doi.org/10.1007/s10549-009-0723-4
  8. Hamajima N (2001). PCR-CTPP: a new genotyping technique in the era of genetic epidemiology. Expert Rev. Mol. Diagn.
  9. Hoeijmakers JH (2001). Genome maintenance mechanisms for preventing cancer. Nature, 411, 366-74. https://doi.org/10.1038/35077232
  10. Hoeijmakers JHJ (2007). Genome maintenance mechanisms are critical for preventing cancer as well as other agingassociated diseases. Mech Ageing Dev, 128, 460-2. https://doi.org/10.1016/j.mad.2007.05.002
  11. Hu JJ, Smith TR, Miller MS, et al (2002). Genetic regulation of ionizing radiation sensitivity and breast cancer risk. Environ Mol Mutagen, 39, 208-15. https://doi.org/10.1002/em.10058
  12. Hung RJ, Hall J, Brennan P, Boffetta P (2005). Genetic polymorphisms in the base excision repair pathway and cancer risk: a HuGE review. Am J Epidemiol, 162, 925-42. https://doi.org/10.1093/aje/kwi318
  13. Jemal A, Bray F, Center MM, et al (2011). Global cancer statistics. CA Cancer J Clin, 61, 69-90. https://doi.org/10.3322/caac.20107
  14. Jyothish B, Ankathil R, Chandini R, et al (1998). DNA repair proficiency: a potential marker for identification of high risk members in breast cancer families. Cancer Lett, 124, 9-13. https://doi.org/10.1016/S0304-3835(97)00419-9
  15. Krokan HE, Nilsen H, Skorpen F, et al (2000). Base excision repair of DNA in mammalian cells. FEBS Lett, 476, 73-7. https://doi.org/10.1016/S0014-5793(00)01674-4
  16. Li Q, J.-M. Wang, Y. Peng, et al (2013). Association of DNA base-excision repair XRCC1, OGG1 and APE1 gene polymorphisms with nasopharyngeal carcinoma susceptibility in a Chinese population. Asian Pac J Cancer Prev, 14, 5145-51. https://doi.org/10.7314/APJCP.2013.14.9.5145
  17. Li H, Ha TC, Tai BC (2009). XRCC1 gene polymorphisms and breast cancer risk in different populations: a meta-analysis. Breast, 18, 183-91. https://doi.org/10.1016/j.breast.2009.03.008
  18. Li Y, Liu F, Tan SQ, et al (2012). X-ray repair crosscomplementing group 1 (XRCC1). genetic polymorphisms and cervical cancer risk: a huge systematic review and meta-analysis. PLoS One, 7, e44441. https://doi.org/10.1371/journal.pone.0044441
  19. Li Z, Guan W, Li MX, et al (2011). Genetic polymorphism of DNA base-excision repair genes (APE1, OGG1 and XRCC1). and their correlation with risk of lung cancer in a Chinese population. Arch Med Res, 42, 226-34. https://doi.org/10.1016/j.arcmed.2011.04.005
  20. Maynard S, Schurman SH, Harboe C, et al (2009). Base excision repair of oxidative DNA damage and association with cancer and aging. Carcinogenesis, 30, 2-10.
  21. Misra RR, Ratnasinghe D, Tangrea JA, et al (2003). Polymorphisms in the DNA repair genes XPD, XRCC1, XRCC3, and APE/ref-1, and the risk of lung cancer amongmale smokers in Finland. Cancer Letters, 191, 171-8. https://doi.org/10.1016/S0304-3835(02)00638-9
  22. Mittal RD, Mandal RK, Gangwar R (2012). Base excision repair pathway genes polymorphism in prostate and bladder cancer risk in North Indian population. Mech Ageing Dev, 133, 127-32. https://doi.org/10.1016/j.mad.2011.10.002
  23. Mohrenweiser HW, Wilson DM, Jones IM (2003). Challenges and complexities in estimating both the functional impact and the disease risk associated with the extensive genetic variation in human DNA repair genes. Mutat Res-Fund Mol M, 526, 93-125. https://doi.org/10.1016/S0027-5107(03)00049-6
  24. Nock NL, Cicek MS, Li L, et al (2006). Polymorphisms in estrogen bioactivation, detoxification and oxidative DNA base excision repair genes and prostate cancer risk. Carcinogenesis, 27, 1842-8. https://doi.org/10.1093/carcin/bgl022
  25. Osawa K, Miyaishi A, Uchino K, et al (2010). APEX1 Asp148Glu gene polymorphism is a risk factor for lung cancer in relation to smoking in Japanese. Asian Pac J Cancer Prev, 11, 1181-6.
  26. Parshad R, Price FM, Bohr VA, et al (1996). Deficient DNA repair capacity, a predisposing factor in breast cancer. Br J Cancer, 74, 1-5. https://doi.org/10.1038/bjc.1996.307
  27. Petermann E, Keil C, Oei SL (2006). Roles of DNA ligase III and XRCC1 in regulating the switch between short patch and long patch BER. DNA Repair, 5, 544-55. https://doi.org/10.1016/j.dnarep.2005.12.008
  28. Roberts MR, Shields PG, Ambrosone CB, et al (2011). Single-nucleotide polymorphisms in DNA repair genes and association with breast cancer risk in the web study. Carcinogenesis, 32, 1223-30. https://doi.org/10.1093/carcin/bgr096
  29. Robertson AB, Klungland A, Rognes T, Leiros I (2009). DNA repair in mammalian cells: Base excision repair: the long and short of it. Cell Mol Life Sci, 66, 981-93. https://doi.org/10.1007/s00018-009-8736-z
  30. Rossner P, Jr., Terry MB, Gammon MD, et al (2006). OGG1 polymorphisms and breast cancer risk. Cancer Epidemiol Biomarkers Prev, 15, 811-5. https://doi.org/10.1158/1055-9965.EPI-05-0659
  31. Saadat M, Ansari-Lari M (2009). Polymorphism of XRCC1 (at codon 399). and susceptibility to breast cancer, a meta-analysis of the literatures. Breast Cancer Res Treat, 115, 137-44. https://doi.org/10.1007/s10549-008-0051-0
  32. Saadat M, Kohan L, Omidvari S (2008). Genetic polymorphisms of XRCC1 (codon 399). and susceptibility to breast cancer in Iranian women, a case-control study. Breast Cancer Res Treat, 111, 549-53. https://doi.org/10.1007/s10549-007-9811-5
  33. Sangrajrang S, Schmezer P, Burkholder I, et al (2008). Polymorphisms in three base excision repair genes and breast cancer risk in Thai women. Breast Cancer Res Treat, 111, 279-88. https://doi.org/10.1007/s10549-007-9773-7
  34. Saxena S, Chakraborty A, Kaushal M, et al (2006). Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India. BMC Med Genet, 7, 75. https://doi.org/10.1186/1471-2350-7-75
  35. Silva SN, Moita R, Azevedo AP, et al (2007). Menopausal age and XRCC1 gene polymorphisms: role in breast cancer risk. Cancer Detect Prev, 31, 303-9. https://doi.org/10.1016/j.cdp.2007.07.001
  36. Smith TR, Levine EA, Freimanis RI, et al (2008). Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk. Carcinogenesis, 29, 2132-8. https://doi.org/10.1093/carcin/bgn193
  37. Smith TR, Levine EA, Perrier ND, et al (2003). DNA-repair genetic polymorphisms and breast cancer risk. Cancer Epidemiol Biomarkers Prev, 12, 1200-4.
  38. Smith TR, Miller MS, Lohman K, et al (2003). Polymorphisms of XRCC1 and XRCC3 genes and susceptibility to breast cancer. Cancer Letters, 190, 183-90. https://doi.org/10.1016/S0304-3835(02)00595-5
  39. 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
  40. Vodicka P, Stetina R, Polakova V, et al (2007). Association of DNA repair polymorphisms with DNA repair functional outcomes in healthy human subjects. Carcinogenesis, 28, 657-64.
  41. Wood RD, Mitchell M, Lindahl T (2005). Human DNA repair genes, 2005. Mutat Res, 577, 275-83. https://doi.org/10.1016/j.mrfmmm.2005.03.007
  42. Wu B, Liu HL, Zhang S, et al (2012). Lack of an Association between Two BER Gene Polymorphisms and Breast Cancer Risk: A Meta-Analysis. PLOS ONE, 7.
  43. Yuan W, Xu L, Feng Y, et al (2010). The hOGG1 Ser326Cys polymorphism and breast cancer risk: a meta-analysis. Breast Cancer Res Treat, 122, 835-42. https://doi.org/10.1007/s10549-009-0722-5
  44. Zhai XD, Mo YN, Xue XQ, et al (2009). XRCC1 codon 280 and ERCC2 codon 751 polymorphisms and risk of esophageal squamous cell carcinoma in a Chinese population. Bull Cancer, 96, E61-5.
  45. Zhang Y, Newcomb PA, Egan KM, et al (2006). Genetic polymorphisms in base-excision repair pathway genes and risk of breast cancer. Cancer Epidemiol Biomarkers Prev, 15, 353-8. https://doi.org/10.1158/1055-9965.EPI-05-0653
  46. Zhou K, Hu D, Lu J, et al (2011). A genetic variant in the APE1/Ref-1 gene promoter -141T/G may modulate risk of glioblastoma in a Chinese Han population. BMC Cancer, 11, 104. https://doi.org/10.1186/1471-2407-11-104

Cited by

  1. Association Between the (GT)n Polymorphism of the HO-1 Gene Promoter Region and Cancer Risk: a Meta-analysis vol.15, pp.11, 2014, https://doi.org/10.7314/APJCP.2014.15.11.4617
  2. Germline Variations of Apurinic/Apyrimidinic Endonuclease 1 (APEX1) Detected in Female Breast Cancer Patients vol.15, pp.18, 2014, https://doi.org/10.7314/APJCP.2014.15.18.7589
  3. A Functional SNP in the MDM2 Promoter Mediates E2F1 Affinity to Modulate Cyclin D1 Expression in Tumor Cell Proliferation vol.15, pp.8, 2014, https://doi.org/10.7314/APJCP.2014.15.8.3817
  4. Targeted Resequencing of 30 Genes Improves the Detection of Deleterious Mutations in South Indian Women with Breast and/or Ovarian Cancers vol.16, pp.13, 2015, https://doi.org/10.7314/APJCP.2015.16.13.5211
  5. The association of polymorphic markers Arg399Gln of XRCC1 gene, Arg72Pro of TP53 gene and T309G of MDM2 gene with breast cancer in Kyrgyz females vol.17, pp.1, 2017, https://doi.org/10.1186/s12885-017-3762-y
  6. The hOGG1 Ser326Cys Gene Polymorphism and Breast Cancer Risk in Saudi Population vol.23, pp.3, 2017, https://doi.org/10.1007/s12253-016-0146-6
  7. gene polymorphism and breast cancer risk: A systematic review and meta-analysis study pp.1075122X, 2018, https://doi.org/10.1111/tbj.12842
  8. The association of −656T > G and 1349T > G polymorphisms of ApE1 gene and the risk of female infertility vol.36, pp.4, 2016, https://doi.org/10.3109/01443615.2015.1127903
  9. Relationship between expression of XRCC1 and tumor proliferation, migration, invasion, and angiogenesis in glioma pp.1573-0646, 2018, https://doi.org/10.1007/s10637-018-0667-9