Genetic polymorphisms in key DNA repair genes and risk of head and neck cancer in a Chinese population

Yuan,Hua; Li,Huizhang; Ma,Hongxia; Niu,Yuming; Wu,Yunong; Zhang,Shangyue; Hu,Zhibin; Shen,Hongbing; Chen,Ning

doi:10.3892/etm.2012.476

Genetic polymorphisms in key DNA repair genes and risk of head and neck cancer in a Chinese population

Authors:
- Hua Yuan
- Huizhang Li
- Hongxia Ma
- Yuming Niu
- Yunong Wu
- Shangyue Zhang
- Zhibin Hu
- Hongbing Shen
- Ning Chen
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Affiliations: Institute of Stomatology, Nanjing Medical University, Nanjing, Jiangsu 210029, P.R. China, Department of Epidemiology and Biostatistics, Cancer Center, Nanjing Medical University, Nanjing, Jiangsu 210029, P.R. China, Huai'an No. 1 Hospital, Huai'an, Jiangsu 223300, P.R. China
Published online on: February 9, 2012 https://doi.org/10.3892/etm.2012.476
Pages: 719-724

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Abstract

Although tobacco and alcohol consumption are the major risk factors of head and neck cancer (HNC), genetic variations of genes involved in several biological pathways, such as DNA repair genes, may affect an individual's susceptibility to HNC. However, few studies have investigated the associations between polymorphisms in DNA repair genes and HNC risk in the Chinese population. Thus, we genotyped five common, non-synonymous single-nucleotide polymorphisms (SNPs) [APEX1 (Asp148Glu), XRCC1 (Arg399Gln), ADPRT (Val762Ala), XPD (Lys751Gln) and XPG (His1104Asp)] in a hospital-based, case-control study of 397 HNC cases and 900 cancer-free controls in China. The results showed that none of the five SNPs in the DNA repair pathway was significantly associated with HNC risk, suggesting that these polymorphisms may not play a major role in HNC susceptibility in this Chinese population.

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1.	Marcu LG and Yeoh E: A review of risk factors and genetic alterations in head and neck carcinogenesis and implications for current and future approaches to treatment. J Cancer Res Clin Oncol. 135:1303–1314. 2009. View Article : Google Scholar : PubMed/NCBI
2.	Jemal A, Siegel R, Xu J and Ward E: Cancer statistics, 2010. CA Cancer J Clin. 60:277–300. 2010. View Article : Google Scholar
3.	Choi SY and Kahyo H: Effect of cigarette smoking and alcohol consumption in the aetiology of cancer of the oral cavity, pharynx and larynx. Int J Epidemiol. 20:878–885. 1991. View Article : Google Scholar : PubMed/NCBI
4.	Phillips DH: Smoking-related DNA and protein adducts in human tissues. Carcinogenesis. 23:1979–2004. 2002. View Article : Google Scholar : PubMed/NCBI
5.	Stokes MP and Comb MJ: A wide-ranging cellular response to UV damage of DNA. Cell Cycle. 7:2097–2099. 2008. View Article : Google Scholar : PubMed/NCBI
6.	Wei Q, Cheng L, Hong WK and Spitz MR: Reduced DNA repair capacity in lung cancer patients. Cancer Res. 56:4103–4107. 1996.PubMed/NCBI
7.	Cheng L, Eicher SA, Guo Z, Hong WK, Spitz MR and Wei Q: Reduced DNA repair capacity in head and neck cancer patients. Cancer Epidemiol Biomarkers Prev. 7:465–468. 1998.PubMed/NCBI
8.	Wang LE, Hu Z, Sturgis EM, et al: Reduced DNA repair capacity for removing tobacco carcinogen-induced DNA adducts contributes to risk of head and neck cancer but not tumor characteristics. Clin Cancer Res. 16:764–774. 2010. View Article : Google Scholar : PubMed/NCBI
9.	Wood RD: DNA damage recognition during nucleotide excision repair in mammalian cells. Biochimie. 81:39–44. 1999. View Article : Google Scholar : PubMed/NCBI
10.	Hung RJ, Hall J, Brennan P and Boffetta P: Genetic polymorphisms in the base excision repair pathway and cancer risk: a HuGE review. Am J Epidemiol. 162:925–942. 2005. View Article : Google Scholar : PubMed/NCBI
11.	Tell G, Damante G, Caldwell D and Kelley MR: The intracellular localization of APE1/Ref-1: more than a passive phenomenon? Antioxid Redox Signal. 7:367–384. 2005. View Article : Google Scholar : PubMed/NCBI
12.	Caldecott KW: XRCC1 and DNA strand break repair. DNA Repair (Amst). 2:955–969. 2003. View Article : Google Scholar : PubMed/NCBI
13.	Masson M, Niedergang C, Schreiber V, Muller S, Menissier de Murcia J and de Murcia G: XRCC1 is specifically associated with poly(ADP-ribose) polymerase and negatively regulates its activity following DNA damage. Mol Cell Biol. 18:3563–3571. 1998.PubMed/NCBI
14.	Spitz MR, Wu X, Wang Y, et al: Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients. Cancer Res. 61:1354–1357. 2001.PubMed/NCBI
15.	Qiao Y, Spitz MR, Guo Z, et al: Rapid assessment of repair of ultraviolet DNA damage with a modified host-cell reactivation assay using a luciferase reporter gene and correlation with polymorphisms of DNA repair genes in normal human lymphocytes. Mutat Res. 509:165–174. 2002. View Article : Google Scholar : PubMed/NCBI
16.	Shen J, Desai M, Agrawal M, et al: Polymorphisms in nucleotide excision repair genes and DNA repair capacity phenotype in sisters discordant for breast cancer. Cancer Epidemiol Biomarkers Prev. 15:1614–1619. 2006. View Article : Google Scholar : PubMed/NCBI
17.	Flores-Obando RE, Gollin SM and Ragin CC: Polymorphisms in DNA damage response genes and head and neck cancer risk. Biomarkers. 15:379–399. 2010. View Article : Google Scholar : PubMed/NCBI
18.	Cui Y, Morgenstern H, Greenland S, et al: Polymorphism of Xeroderma pigmentosum group G and the risk of lung cancer and squamous cell carcinomas of the oropharynx, larynx and esophagus. Int J Cancer. 118:714–720. 2006.PubMed/NCBI
19.	Gugatschka M, Dehchamani D, Wascher TC, Friedrich G and Renner W: DNA repair gene ERCC2 polymorphisms and risk of squamous cell carcinoma of the head and neck. Exp Mol Pathol. 91:331–334. 2010. View Article : Google Scholar : PubMed/NCBI
20.	Hiyama T, Yoshihara M, Tanaka S and Chayama K: Genetic polymorphisms and head and neck cancer risk (Review). Int J Oncol. 32:945–973. 2008.PubMed/NCBI
21.	Wang Y, Yang H, Li H, et al: Association between X-ray repair cross complementing group 1 codon 399 and 194 polymorphisms and lung cancer risk: a meta-analysis. Cancer Lett. 285:134–140. 2009. View Article : Google Scholar : PubMed/NCBI
22.	Yin M, Tan D and Wei Q: Genetic variants of the XRCC1 gene and susceptibility to esophageal cancer: a meta-analysis. Int J Clin Exp Med. 2:26–35. 2009.PubMed/NCBI
23.	Wang F, Chang D, Hu FL, et al: DNA repair gene XPD polymorphisms and cancer risk: a meta-analysis based on 56 case-control studies. Cancer Epidemiol Biomarkers Prev. 17:507–517. 2008. View Article : Google Scholar : PubMed/NCBI
24.	Hu Z, Wei Q, Wang X and Shen H: DNA repair gene XPD polymorphism and lung cancer risk: a meta-analysis. Lung Cancer. 46:1–10. 2004. View Article : Google Scholar : PubMed/NCBI
25.	Li C, Hu Z, Lu J, et al: Genetic polymorphisms in DNA base-excision repair genes ADPRT, XRCC1, and APE1 and the risk of squamous cell carcinoma of the head and neck. Cancer. 110:867–875. 2007. View Article : Google Scholar : PubMed/NCBI
26.	Vineis P, Manuguerra M, Kavvoura FK, et al: A field synopsis on low-penetrance variants in DNA repair genes and cancer susceptibility. J Natl Cancer Inst. 101:24–36. 2009. View Article : Google Scholar : PubMed/NCBI
27.	Shen MR, Jones IM and Mohrenweiser H: Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. Cancer Res. 58:604–608. 1998.PubMed/NCBI
28.	Xing DY, Qi J, Tan W, et al: Association of genetic polymorphisms in the DNA repair gene XPD with risk of lung and esophageal cancer in a Chinese population in Beijing. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 20:35–38. 2003.(In Chinese).
29.	An J, Liu Z, Hu Z, et al: Potentially functional single nucleotide polymorphisms in the core nucleotide excision repair genes and risk of squamous cell carcinoma of the head and neck. Cancer Epidemiol Biomarkers Prev. 16:1633–1638. 2007. View Article : Google Scholar : PubMed/NCBI
30.	Bau DT, Tsai MH, Huang CY, et al: Relationship between polymorphisms of nucleotide excision repair genes and oral cancer risk in Taiwan: evidence for modification of smoking habit. Chin J Physiol. 50:294–300. 2007.PubMed/NCBI
31.	Huang WY, Olshan AF, Schwartz SM, et al: Selected genetic polymorphisms in MGMT, XRCC1, XPD, and XRCC3 and risk of head and neck cancer: a pooled analysis. Cancer Epidemiol Biomarkers Prev. 14:1747–1753. 2005. View Article : Google Scholar : PubMed/NCBI
32.	Kietthubthew S, Sriplung H, Au WW and Ishida T: Polymorphism in DNA repair genes and oral squamous cell carcinoma in Thailand. Int J Hyg Environ Health. 209:21–29. 2006. View Article : Google Scholar : PubMed/NCBI
33.	Majumder M, Sikdar N, Ghosh S and Roy B: Polymorphisms at XPD and XRCC1 DNA repair loci and increased risk of oral leukoplakia and cancer among NAT2 slow acetylators. Int J Cancer. 120:2148–2156. 2007. View Article : Google Scholar : PubMed/NCBI
34.	Ramachandran S, Ramadas K, Hariharan R, Rejnish Kumar R and Radhakrishna Pillai M: Single nucleotide polymorphisms of DNA repair genes XRCC1 and XPD and its molecular mapping in Indian oral cancer. Oral Oncol. 42:350–362. 2006. View Article : Google Scholar : PubMed/NCBI
35.	Sturgis EM, Zheng R, Li L, et al: XPD/ERCC2 polymorphisms and risk of head and neck cancer: a case-control analysis. Carcinogenesis. 21:2219–2223. 2000. View Article : Google Scholar : PubMed/NCBI
36.	Abbasi R, Ramroth H, Becher H, Dietz A, Schmezer P and Popanda O: Laryngeal cancer risk associated with smoking and alcohol consumption is modified by genetic polymorphisms in ERCC5, ERCC6 and RAD23B but not by polymorphisms in five other nucleotide excision repair genes. Int J Cancer. 125:1431–1439. 2009. View Article : Google Scholar
37.	Matullo G, Dunning AM, Guarrera S, et al: DNA repair polymorphisms and cancer risk in non-smokers in a cohort study. Carcinogenesis. 27:997–1007. 2006. View Article : Google Scholar : PubMed/NCBI
38.	Rydzanicz M, Wierzbicka M, Gajecka M, Szyfter W and Szyfter K: The impact of genetic factors on the incidence of multiple primary tumors (MPT) of the head and neck. Cancer Lett. 224:263–278. 2005. View Article : Google Scholar : PubMed/NCBI
39.	Gajecka M, Rydzanicz M, Jaskula-Sztul R, Wierzbicka M, Szyfter W and Szyfter K: Reduced DNA repair capacity in laryngeal cancer subjects. A comparison of phenotypic and genotypic results. Adv Otorhinolaryngol. 62:25–37. 2005.PubMed/NCBI
40.	Wakasugi M, Reardon JT and Sancar A: The non-catalytic function of XPG protein during dual incision in human nucleotide excision repair. J Biol Chem. 272:16030–16034. 1997. View Article : Google Scholar : PubMed/NCBI
41.	O’Donovan A, Davies AA, Moggs JG, West SC and Wood RD: XPG endonuclease makes the 3′ incision in human DNA nucleotide excision repair. Nature. 371:432–435. 1994.
42.	Bessho T: Nucleotide excision repair 3′ endonuclease XPG stimulates the activity of base excision repair enzyme thymine glycol DNA glycosylase. Nucleic Acids Res. 27:979–983. 1999.
43.	Klungland A, Hoss M, Gunz D, et al: Base excision repair of oxidative DNA damage activated by XPG protein. Mol Cell. 3:33–42. 1999. View Article : Google Scholar : PubMed/NCBI
44.	Jorgensen TJ, Visvanathan K, Ruczinski I, Thuita L, Hoffman S and Helzlsouer KJ: Breast cancer risk is not associated with polymorphic forms of xeroderma pigmentosum genes in a cohort of women from Washington County, Maryland. Breast Cancer Res Treat. 101:65–71. 2007. View Article : Google Scholar : PubMed/NCBI
45.	Kiyohara C and Yoshimasu K: Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis. Int J Med Sci. 4:59–71. 2007. View Article : Google Scholar : PubMed/NCBI
46.	Hussain SK, Mu LN, Cai L, et al: Genetic variation in immune regulation and DNA repair pathways and stomach cancer in China. Cancer Epidemiol Biomarkers Prev. 18:2304–2309. 2009. View Article : Google Scholar : PubMed/NCBI
47.	Garcia-Closas M, Malats N, Real FX, et al: Genetic variation in the nucleotide excision repair pathway and bladder cancer risk. Cancer Epidemiol Biomarkers Prev. 15:536–542. 2006. View Article : Google Scholar : PubMed/NCBI
48.	Mort R, Mo L, McEwan C and Melton DW: Lack of involvement of nucleotide excision repair gene polymorphisms in colorectal cancer. Br J Cancer. 89:333–337. 2003. View Article : Google Scholar
49.	Wen SX, Tang PZ, Zhang XM, et al: Association between genetic polymorphism in xeroderma pigmentosum G gene and risks of laryngeal and hypopharyngeal carcinomas. Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 28:703–706. 2006.(In Chinese).
50.	Manuguerra M, Matullo G, Veglia F, et al: Multi-factor dimensionality reduction applied to a large prospective investigation on gene-gene and gene-environment interactions. Carcinogenesis. 28:414–422. 2007. View Article : Google Scholar
51.	Izumi T, Wiederhold LR, Roy G, et al: Mammalian DNA base excision repair proteins: their interactions and role in repair of oxidative DNA damage. Toxicology. 193:43–65. 2003. View Article : Google Scholar : PubMed/NCBI
52.	Dianov GL, Sleeth KM, Dianova II and Allinson SL: Repair of abasic sites in DNA. Mutat Res. 531:157–163. 2003. View Article : Google Scholar : PubMed/NCBI
53.	Hu JJ, Smith TR, Miller MS, Mohrenweiser HW, Golden A and Case LD: Amino acid substitution variants of APE1 and XRCC1 genes associated with ionizing radiation sensitivity. Carcinogenesis. 22:917–922. 2001. View Article : Google Scholar : PubMed/NCBI
54.	Jelonek K, Gdowicz-Klosok A, Pietrowska M, et al: Association between single-nucleotide polymorphisms of selected genes involved in the response to DNA damage and risk of colon, head and neck, and breast cancers in a Polish population. J Appl Genet. 51:343–352. 2010. View Article : Google Scholar
55.	Caldecott KW, Tucker JD, Stanker LH and Thompson LH: Characterization of the XRCC1-DNA ligase III complex in vitro and its absence from mutant hamster cells. Nucleic Acids Res. 23:4836–4843. 1995. View Article : Google Scholar : PubMed/NCBI
56.	Lunn RM, Langlois RG, Hsieh LL, Thompson CL and Bell DA: XRCC1 polymorphisms: effects on aflatoxin B1-DNA adducts and glycophorin A variant frequency. Cancer Res. 59:2557–2561. 1999.PubMed/NCBI
57.	Lei YC, Hwang SJ, Chang CC, et al: Effects on sister chromatid exchange frequency of polymorphisms in DNA repair gene XRCC1 in smokers. Mutat Res. 519:93–101. 2002. View Article : Google Scholar : PubMed/NCBI
58.	Wei B, Zhou Y, Xu Z, et al: XRCC1 Arg399Gln and Arg194Trp polymorphisms in prostate cancer risk: a meta-analysis. Prostate Cancer Prostatic Dis. 14:225–231. 2010. View Article : Google Scholar : PubMed/NCBI
59.	Saadat M: Haplotype analysis of XRCC1 (at codons 194 and 399) and susceptibility to breast cancer, a meta-analysis of the literatures. Breast Cancer Res Treat. 124:785–791. 2010. View Article : Google Scholar : PubMed/NCBI
60.	Zheng H, Wang Z and Shi X: XRCC1 polymorphisms and lung cancer risk in Chinese populations: a meta-analysis. Lung Cancer. 65:268–273. 2009. View Article : Google Scholar : PubMed/NCBI
61.	Hu Z, Ma H, Chen F, Wei Q and Shen H: XRCC1 polymorphisms and cancer risk: a meta-analysis of 38 case-control studies. Cancer Epidemiol Biomarkers Prev. 14:1810–1818. 2005. View Article : Google Scholar : PubMed/NCBI
62.	Kumari SR, Mendoza-Alvarez H and Alvarez-Gonzalez R: Functional interactions of p53 with poly(ADP-ribose) polymerase (PARP) during apoptosis following DNA damage: covalent poly(ADP-ribosyl)ation of p53 by exogenous PARP and noncovalent binding of p53 to the M(r) 85,000 proteolytic fragment. Cancer Res. 58:5075–5078. 1998.
63.	Lockett KL, Hall MC, Xu J, et al: The ADPRT V762A genetic variant contributes to prostate cancer susceptibility and deficient enzyme function. Cancer Res. 64:6344–6348. 2004. View Article : Google Scholar : PubMed/NCBI