- Volume 14 Issue 9
DOI QR Code
Association of DNA Base-excision Repair XRCC1, OGG1 and APE1 Gene Polymorphisms with Nasopharyngeal Carcinoma Susceptibility in a Chinese Population
- Li, Qing (Cancer Center, Daping Hospital and Research Institute of Surgery, Third Military Medical University) ;
- Wang, Jian-Min (The 6th Department of Research Institute of Surgery, 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) ;
- Zhang, Shi-Heng (Cancer Center, Daping Hospital and Research Institute of Surgery, Third Military Medical University) ;
- Ren, Tao (Cancer Center, Daping Hospital and Research Institute of Surgery, Third Military Medical University) ;
- Luo, Hao (Cancer Center, Daping Hospital and Research Institute of Surgery, Third Military Medical University) ;
- Cheng, Yi (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 : 2013.09.30
Background: Numerous carcinogens and reactive oxygen species (ROS) may cause DNA damage including oxidative base lesions that lead to risk of nasopharyngeal carcinoma. Genetic susceptibility has been reported to play a key role in the development of this disease. The base excision repair (BER) pathway can effectively remove oxidative lesions, maintaining genomic stability and normal expression, with X-ray repair crosscomplementing1 (XRCC1), 8-oxoguanine glycosylase-1 (OGG1) and apurinic/apyimidinic endonuclease 1 (APE1) playing important roles. Aims: To analyze polymorphisms of DNA BER genes (OOG1, XRCC1 and APE1) and explore their associations, and the combined effects of these variants, with risk of nasopharyngeal carcinoma. Materials and Methods: We detected SNPs of XRCC1 (Arg399Gln), OGG1 (Ser326Cys), APE1 (Asp148Glu and -141T/G) using the polymerase chain reaction (PCR) with peripheral blood samples from 231 patients with NPC and 300 healthy people, furtherly analyzing their relations with the risk of NPC in multivariate logistic regression models. Results: After adjustment for sex and age, individuals with the XRCC1 399Gln/Gln (OR=1.96; 95%CI:1.02-3.78; p=0.04) and Arg/Gln (OR=1.87; 95%CI:1.29-2.71; p=0.001) genotype variants demonstrated a significantly increased risk of nasopharyngeal carcinoma compared with those having the wild-type Arg/Arg genotype. APE1-141G/G was associated with a significantly reduced risk of NPC (OR=0.40;95%CI:0.18-0.89) in the smoking group. The OR calculated for the combination of XRCC1 399Gln and APE1 148Gln, two homozygous variants, was significantly additive for all cases (OR=2.09; 95% CI: 1.27-3.47; p=0.004). Conclusion: This is the first study to focus on the association between DNA base-excision repair genes (XRCC1, OGG1 and APE1) polymorphism and NPC risk. The XRCC1 Arg399Gln variant genotype is associated with an increased risk of NPC. APE1-141G/G may decrease risk of NPC in current smokers. The combined effects of polymorphisms within BER genes of XRCC1 399Gln and APE1 148Gln may contribute to a high risk of nasopharyngeal carcinoma.
Base excision repair;single nucleotide polymorphisms (SNP);nasopharyngeal carcinoma (NPC)
Supported by : National Natural Science Foundation of China
- Campalans A, Marsin S, Nakabeppu Y, et al (2005). XRCC1 interacts with multiple DNA glycosylases: a model for its recruitment to base excision repair. DNA Repair, 4, 826-35. https://doi.org/10.1016/j.dnarep.2005.04.014
- Cho EY, Hildesheim A, Chen CJ, et al (2003). Nasopharyngeal Carcinoma and Genetic Polymorphisms of DNA Repair Enzymes XRCC1 and hOGG1. Cancer Epidemiol Biomarkers Prev, 12, 1100-4.
- Laantri N, Jalbout M, Khyatti M, et al (2011).XRCC1 and hOGG1 genes and risk of nasopharyngeal carcinoma in North African countries. Mol Carcinog, 50, 732-7. https://doi.org/10.1002/mc.20754
- Hamajima N (2001). PCR-CTPP: a new genotyping technique in the era of genetic epidemiology. Expert Rev Mol Diagn, 1, 119-23. https://doi.org/10.1586/14737220.127.116.11
- Duell EJ, Holly EA, Bracci PM, et al (2002). A population-based study of the Arg399Gln polymorphism in X-ray repair crosscomplementing group 1 (XRCC1) and risk of pancreatic adenocarcinoma. Cancer Res, 62, 4630-6.
- Fachiroh J, Sangrajrang S, Johansson M, et al (2012). Tobacco consumption and genetic susceptibility to nasopharyngeal carcinoma (NPC) in Thailand. Cancer Causes Control, 23, 1995-2002. https://doi.org/10.1007/s10552-012-0077-9
- Farkasova T, Gurska S, Witkovsky V, Gabelova A (2008). Significance of amino acid substitution variants of DNA repair genes in radiosusceptibility of cervical cancer patients; a pilot study. Neoplasma, 55, 330-7.
- Hatt L, Loft S, Risom L, et al (2008). OGG1 expression and OGG1 Ser326Cys polymorphism and risk of lung cancer in a prospective study. Mutat Res, 639, 45-54. https://doi.org/10.1016/j.mrfmmm.2007.11.002
- Hoeijmakers JH (2001). Genome maintenance mechanisms for preventing cancer. Nature, 411, 366-74. https://doi.org/10.1038/35077232
- Huang GL, Guo HQ, Yu CY, et al (2011). XRCC1 polymorphisms and risk of nasopharyngeal carcinoma: a meta-analysis. Asian Pac J Cancer Prev, 12, 2329-33.
- Hu JJ, Smith TR, Miller MS, et al (2001). Amino acid substitution variants of APE1 and XRCC1 genes associated with ionizing radiation sensitivity. Carcinogenesis, 22, 917-22. https://doi.org/10.1093/carcin/22.6.917
- 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
- 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
- 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
- Hu Z, Ma H, Chen F, et al (2005). XRCC1 polymorphisms and cancer risk: a meta-analysis of 38 case-control studies. Cancer Epidemiol Biomarkers Prev, 14, 1810-8. https://doi.org/10.1158/1055-9965.EPI-04-0793
- Ji MF, Wang DK, Yu YL, et al (2007). Sustained elevation of Epstein-Barr virus antibody levels preceding clinical onset of nasopharyngeal carcinoma. Br J Cancer, 96, 623-30. https://doi.org/10.1038/sj.bjc.6603609
- Karahalil B, Engin AB, Coskun E (2012). Could 8-oxoguanine DNA glycosylase1 Ser326Cys polymorphism be a biomarker of susceptibility in cancer? Toxicol Ind Health.
- Ladiges WC (2006). Mouse models of XRCC1 DNA repair polymorphisms and cancer. Oncogene, 25, 1612-9. https://doi.org/10.1038/sj.onc.1209370
- Lee A, Foo W, Mang O, et al (2003). Changing epidemiology of nasopharyngeal carcinoma in Hong Kong over a 20- year period (1980-1999): an encouraging reduction in both incidence and mortality. Int J Cancer, 103, 680-5. https://doi.org/10.1002/ijc.10894
- Lei YC, Hwang SJ, Chang CC, et al (2002). Effects on sister chromatid exchange frequency of polymorphisms in DNA repair gene XRCC1 in smokers. Mutat Res, 519, 93-101. https://doi.org/10.1016/S1383-5718(02)00127-4
- Leng S, Cheng J, Zhang L, et al (2005). The association of XRCC1 haplotypes and chromosomal damage levels in peripheral blood lymphocyte among coke-oven workers. Cancer Epidemiol Biomarkers Prev, 14, 1295-301. https://doi.org/10.1158/1055-9965.EPI-04-0690
- Lin TM, Chang HJ, Chen CJ, et al (1986). Risk factors for nasopharyngeal carcinoma. Anticancer Res, 6, 791-6.
- 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
- Palli D, Russo A, Masala G, et al (2001). DNA adduct levels and DNA repair polymorphisms in traffic-exposed workers and a general population sample. Int J Cancer, 94, 121-7. https://doi.org/10.1002/ijc.1433
- Loft S, Svoboda P, Kasai H, et al (2006). Prospective study of 8-oxo-7, 8-dihydro-2'-deoxyguanosine excretion and the risk of lung cancer. Carcinogenesis, 27, 1245-50. https://doi.org/10.1093/carcin/bgi313
- 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.
- Nakao M, Hosono S, Ito H, et al (2012). Selected polymorphisms of base excision repair genes and pancreatic cancer risk in Japanese. J Epidemiol, 22, 477-83. https://doi.org/10.2188/jea.JE20120010
- Pampel FC (2003). Declining sex differences in mortality from lung cancer in high-income nations. Demography, 40, 45-65. https://doi.org/10.1353/dem.2003.0007
- Park JY, Lee SY, Jeon HS, et al (2002). Polymorphism of the DNA repair gene XRCC1 and risk of primary lung cancer. Cancer Epidemiol Biomarkers Prev, 11, 23-7.
- Pastorelli R, Cerri A, Mezzetti M, et al (2002). Effect of DNA repair gene polymorphisms on BPDEDNA adducts in human lymphocytes. Int J Cancer, 100, 9-13. https://doi.org/10.1002/ijc.10463
- 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 (Amst), 5, 544-55. https://doi.org/10.1016/j.dnarep.2005.12.008
- Qu T, Morimoto K (2005). X-ray repair cross-complementing group 1 polymorphisms and cancer risks in Asian populations: a mini review. Cancer Detect Prev, 29, 215-20. https://doi.org/10.1016/j.cdp.2005.04.002
- Ratnasinghe LD, Abnet C, Qiao YL, et al (2004). Polymorphisms of XRCC1 and risk of esophageal and gastric cardia cancer. Cancer Lett, 216, 157-64. https://doi.org/10.1016/j.canlet.2004.03.012
- Smith TR, Levine EA, Perrier ND, et al (2003). DNA-repair genetic polymorphisms and breast cancer risk. Cancer Epidemiol Biomarkers Prev, 12, 1200-4.
- 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
- Skinner DW, VanHasselt CA, Tsao SY (1991). Nasopharyngeal carcinoma: modes of presentation. Ann Otol Rhinol Laryngol, 100, 544-51. https://doi.org/10.1177/000348949110000705
- 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.
- Stern MC, Umbach DM, van Gils CH, et al (2001). DNA repair gene XRCC1 polymorphisms, smoking, and bladder cancer risk. Cancer Epidemiol Biomarkers Prev, 10, 125-31.
- Sturgis EM, Castillo EJ, Li 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
- Tell G, Damante G, Caldwell D, Kelley MR (2005). The intracellular localization of APE1/Ref-1: more than a passive phenomenon? Antioxid Redox Signal, 7, 367-84. https://doi.org/10.1089/ars.2005.7.367
- 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
- Tuimala J, Szekely G, Gundy S, et al (2002). Genetic polymorphisms of DNA repair and xenobiotic-metabolizing enzymes: role in mutagen sensitivity. Carcinogenesis, 23, 1003-8. https://doi.org/10.1093/carcin/23.6.1003
- Wei Q, Cheng L, Hong WK, Spitz MR (1996). Reduced DNA repair capacity in lung cancer patients. Cancer Res, 56, 4103-7.
- Yuan JM, Wang XL, Xiang YB, et al (2000). Preserved foods in relation to risk of nasopharyngeal carcinoma in Shanghai, China. Int J Cancer, 85, 358-63. https://doi.org/10.1002/(SICI)1097-0215(20000201)85:3<358::AID-IJC11>3.0.CO;2-E
- Wood RD, Mitchell M, Sgouros J, Lindahl T (2001). Human DNA repair genes. Science, 291, 1284-9. https://doi.org/10.1126/science.1056154
- Xi T, Jones IM, Mohrenweiser HW (2004). Many amino acid substitution variants identified in DNA repair genes during human population screenings are predicted to impact protein function. Genomics, 83, 970-9. https://doi.org/10.1016/j.ygeno.2003.12.016
- Yuan JM, Wang XL, Xiang YB, et al (2000). Non-dietary risk factors for nasopharyngeal carcinoma in Shanghai, China. Int J Cancer, 85, 364-9. https://doi.org/10.1002/(SICI)1097-0215(20000201)85:3<364::AID-IJC12>3.0.CO;2-C
- Yun Cao, Xiao-Ping Miao, et al (2006). Polymorphisms of XRCC1 genes and risk of nasopharyngeal carcinoma in the Cantonese population, BMC Cancer, 6, 167. https://doi.org/10.1186/1471-2407-6-167
- Zhu K, Levine RS, Brann EA, et al (1995). A populationbased case-control study of the relationship between cigarette smoking and nasopharyngeal cancer (United States). Cancer Causes Control, 6, 507-12. https://doi.org/10.1007/BF00054158
- 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
- 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
- Associations of ERCC4 rs1800067 Polymorphism with Cancer Risk: an Updated Meta-analysis vol.15, pp.18, 2014, https://doi.org/10.7314/APJCP.2014.15.18.7639
- Single Nucleotide Polymorphisms of DNA Base-excision Repair Genes (APE1, OGG1 and XRCC1) Associated with Breast Cancer Risk in a Chinese Population vol.15, pp.3, 2014, https://doi.org/10.7314/APJCP.2014.15.3.1133
- Glycididazole Sodium Combined with Radiochemotherapy for Locally Advanced Nasopharyngeal Carcinoma vol.15, pp.6, 2014, https://doi.org/10.7314/APJCP.2014.15.6.2641
- Distribution and Haplotype Associations of XPD Lys751Gln, XRCC1 Arg280His and XRCC1 Arg399Gln Polymorphisms with Nasopharyngeal Carcinoma in the Malaysian Population vol.15, pp.6, 2014, https://doi.org/10.7314/APJCP.2014.15.6.2747
- OGG1 Mutations and Risk of Female Breast Cancer: Meta-Analysis and Experimental Data vol.2015, pp.1875-8630, 2015, https://doi.org/10.1155/2015/690878
- The association between gene polymorphisms and risk of nasopharyngeal carcinoma vol.32, pp.1, 2015, https://doi.org/10.1007/s12032-014-0398-5
- XPD, APE1, and MUTYH polymorphisms increase head and neck cancer risk: effect of gene-gene and gene-environment interactions vol.36, pp.10, 2015, https://doi.org/10.1007/s13277-015-3472-5
- Association between OGG1 Ser326Cys polymorphism and risk of upper aero-digestive tract and gastrointestinal cancers: a meta-analysis vol.5, pp.1, 2016, https://doi.org/10.1186/s40064-016-1858-5
- Apurinic/apyrimidinic endonuclease 1 (APE1) is overexpressed in malignant transformation of salivary gland pleomorphic adenoma vol.274, pp.8, 2017, https://doi.org/10.1007/s00405-017-4605-9
- base excision repair gene with risk of nasopharyngeal carcinoma in a population from an endemic area in South China pp.08878013, 2017, https://doi.org/10.1002/jcla.22238
- Association between XRCC1 single-nucleotide polymorphisms and susceptibility to nasopharyngeal carcinoma vol.97, pp.32, 2018, https://doi.org/10.1097/MD.0000000000011852
- Polymorphisms in DNA repair genes increase the risk for type 2 diabetes mellitus and hypertension vol.9, pp.1, 2018, https://doi.org/10.1515/bmc-2018-0008
- Effects of APE1 Asp148Glu polymorphisms on OPMD malignant transformation, and on susceptibility to and overall survival of oral cancer in Taiwan pp.10433074, 2019, https://doi.org/10.1002/hed.25576