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01-04-2013 | Research Article

An association between XPC Lys939Gln polymorphism and the risk of bladder cancer: a meta-analysis

Authors: Yan Zhang, Xinhua Wang, Wei Zhang, Shengkai Gong

Published in: Tumor Biology | Issue 2/2013

Abstract

The polymorphism Lys939Gln in xeroderma pigmentosum complementation group C (XPC) gene has been reported to be associated with bladder cancer in some studies, though the results remain inconclusive. To explore this relationship between XPC Lys939Gln polymorphism and the susceptibility for bladder cancer and the impact of smoking exposures, a cumulative meta-analysis was performed in this study. PubMed and EMBASE databases have been systematically searched to identify relevant studies. Data were abstracted independently by two reviewers. A meta-analysis was performed to examine the association between XPC Lys939Gln polymorphism and susceptibility to bladder cancer (BC). Odds ratios (ORs) and 95 % confidence intervals (CIs) were calculated. Thirteen studies were chosen in this meta-analysis, involving 4,927 BC cases (1,119 Asian, 2,670 Caucasian, and 1,138 mixed) and 5,185 controls (1,399 Asian, 2,629 Caucasian, and 1,157 mixed). The XPC 939Gln allele was significantly associated with increased risk of BC based on allelic contrast (OR = 1.11, 95 % CI = 1.02–1.21), homozygote comparison (OR = 1.35, 95 % CI = 1.08–1.68), and a recessive genetic model (OR = 1.36, 95 % CI = 1.09–1.68). The results from the present meta-analysis indicated that the 939Gln polymorphism in XPC is a risk factor for bladder carcinogenesis. Further large and well-designed studies are needed to confirm this conclusion.

Jemal A, Siegel R, Ward E, Murray T, Xu J, Smigal C, et al. Cancer statistics, 2006. CA Cancer J Clin. 2006;56:106–30.PubMedCrossRef

Mucci LA, Wedren S, Tamimi RM, Trichopoulos D, Adami HO. The role of gene–environment interaction in the aetiology of human cancer: examples from cancers of the large bowel, lung and breast. J Intern Med. 2001;249:477–93.PubMedCrossRef

Burch JD, Rohan TE, Howe GR, Risch HA, Hill GB, Steele R, et al. Risk of bladder cancer by source and type of tobacco exposure: a case–control study. Int J Cancer. 1989;44:622–8.PubMedCrossRef

Freedman ND, Silverman DT, Hollenbeck AR, Schatzkin A, Abnet CC. Association between smoking and risk of bladder cancer among men and women. JAMA. 2011;306:737–45.PubMedCrossRef

Vineis P, Talaska G, Malaveille C, Bartsch H, Martone T, Sithisarankul P, et al. DNA adducts in urothelial cells: relationship with biomarkers of exposure to arylamines and polycyclic aromatic hydrocarbons from tobacco smoke. Int J Cancer. 1996;65:314–16.PubMedCrossRef

Asami S, Manabe H, Miyake J, Tsurudome Y, Hirano T, Yamaguchi R, et al. Cigarette smoking induces an increase in oxidative DNA damage, 8-hydroxydeoxyguanosine, in a central site of the human lung. Carcinogenesis. 1997;18:1763–6.PubMedCrossRef

Wiencke JK. DNA adduct burden and tobacco carcinogenesis. Oncogene. 2002;21:7376–91.PubMedCrossRef

Wood R. Nucleotide excision repair in mammalian cells. J Biol Chem. 1999;272:23465–8.CrossRef

Thoma B. Critical DNA, damage recognition functions of XPC-hHR23B and XPA-RPA in nucleotide excision repair. Mol Carcinog. 2003;38:1–13.PubMedCrossRef

10.

Sugasawa K. Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair. Mol Cell. 1998;2:223–32.PubMedCrossRef

11.

Janicijevic A, Sugasawa K, Shimizu Y, Hanaoka F, Wijgers N, Djurica M, et al. DNA bending by the human damage recognition complex XPC-HR23B. DNA Repair (Amst). 2003;2:325–36.CrossRef

12.

Tapias A, Auriol J, Forget D, Enzlin JH, Schärer OD, Coin F, et al. Ordered conformational changes in damaged DNA induced by nucleotide excision repair factors. J Biol Chem. 2004;279:19074–83.PubMedCrossRef

13.

Goode EL, Ulrich CM, Potter JD. Polymorphisms in DNA repair genes and associations with cancer risk. Cancer Epidemiol Biomarkers Prev. 2002;11:1513–30.PubMed

14.

Khan SG, Muniz-Medina V, Shahlavi T, Baker CC, Inui H, Ueda T, et al. The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function. Nucleic Acids Res. 2002;30:3624–31.PubMedCrossRef

15.

Hu Z, Wang Y, Wang X, Liang G, Miao X, Xu Y, et al. DNA repair gene XPC genotypes/haplotypes and risk of lung cancer in a Chinese population. Int J Cancer. 2005;115:478–83.PubMedCrossRef

16.

Blankenburg S, Konig IR, Moessner R, Laspe P, Thoms KM, Krueger U, et al. Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case–control study. Carcinogenesis. 2005;26:1085–90.PubMedCrossRef

17.

Sanyal S, Festa F, Sakano S, Zhang Z, Steineck G, Norming U, et al. Polymorphisms in DNA repair and metabolic genes in bladder cancer. Carcinogenesis. 2004;25:729–34.PubMedCrossRef

18.

Zhang L, Zhang Z, Yan W. Single nucleotide polymorphisms for DNA repair genes in breast cancer patients. Clin Chim Acta. 2005;359:150–5.PubMedCrossRef

19.

Liu Y, Wang H, Lin T, Wei Q, Zhi Y, Yuan F, et al. Interactions between cigarette smoking and XPC-PAT genetic polymorphism enhance bladder cancer risk. Oncol Rep. 2012;28:337–45.PubMed

20.

Mittal RD, Mandal RK. Genetic variation in nucleotide excision repair pathway genes influence prostate and bladder cancer susceptibility in North Indian population. Indian J Hum Genet. 2012;18:47–55.PubMedCrossRef

21.

Rouissi K, Ouerhani S, Hamrita B, Bougatef K, Marrakchi R, Cherif M, et al. Smoking and polymorphisms in xenobiotic metabolism and DNA repair genes are additive risk factors affecting bladder cancer in Northern Tunisia. Pathol Oncol Res. 2011;17:879–86.PubMedCrossRef

22.

Rouissi K, Bahria IB, Bougatef K, Marrakchi R, Stambouli N, Hamdi K, et al. The effect of tobacco, XPC, ERCC2 and ERCC5 genetic variants in bladder cancer development. BMC Cancer. 2011;11:101.PubMedCrossRef

23.

de Verdier PJ, Sanyal S, Bermejo JL, Steineck G, Hemminki K, Kumar R. Genotypes, haplotypes and diplotypes of three XPC polymorphisms in urinary-bladder cancer patients. Mutat Res. 2010;694:39–44.PubMedCrossRef

24.

Gangwar R, Mandhani A, Mittal RD. XPC gene variants: a risk factor for recurrence of urothelial bladder carcinoma in patients on BCG immunotherapy. J Cancer Res Clin Oncol. 2010;136:779–86.PubMedCrossRef

25.

Wen H, Ding Q, Fang ZJ, Xia GW, Fang J. Population study of genetic polymorphisms and superficial bladder cancer risk in Han-Chinese smokers in Shanghai. Int Urol Nephrol. 2009;41:855–64.PubMedCrossRef

26.

Fontana L, Bosviel R, Delort L, Guy L, Chalabi N, Kwiatkowski F, et al. DNA repair gene ERCC2, XPC, XRCC1, XRCC3 polymorphisms and associations with bladder cancer risk in a French cohort. Anticancer Res. 2008;28:1853–6.PubMed

27.

Zhu Y, Lai M, Yang H, Lin J, Huang M, Grossman HB, et al. Genotypes, haplotypes and diplotypes of XPC and risk of bladder cancer. Carcinogenesis. 2007;28:698–703.PubMedCrossRef

28.

Wu X, Gu J, Grossman HB, Amos CI, Etzel C, Huang M, et al. Bladder cancer predisposition: a multigenic approach to DNA-repair and cell cycle-control genes. Am J Hum Genet. 2006;78:464–79.PubMedCrossRef

29.

García-Closas M, Malats N, Real FX, Welch R, Kogevinas M, Chatterjee N, et al. Genetic variation in the nucleotide excision repair pathway and bladder cancer risk. Cancer Epidemiol Biomarkers Prev. 2006;15:536–42.PubMedCrossRef

30.

Sak SC, Barrett JH, Paul AB, Bishop DT, Kiltie AE. The polyAT, intronic IVS11-6 and Lys939Gln XPC polymorphisms are not associated with transitional cell carcinoma of the bladder. Br J Cancer. 2005;92:2262–5.PubMedCrossRef

31.

Egger M, Davey Smith G, Schneider M, Minder C. Bias in meta-analysis detected by a simple, graphical test. BMJ. 1997;315:629–34.PubMedCrossRef

32.

Gu J, Zhao H, Dinney CP, Zhu Y, Leibovici D, Bermejo CE, et al. Nucleotide excision repair gene polymorphisms and recurrence after treatment for superficial bladder cancer. Clin Cancer Res. 2005;11:1408–15.PubMedCrossRef

33.

Wood RD, Mitchell M, Sgouros J, Lindahl T. Human DNA repair genes. Science. 2001;291:1284–9.PubMedCrossRef

34.

Hoeijmakers JH. Genome maintenance mechanisms for preventing cancer. Nature. 2001;411:366–74.PubMedCrossRef

35.

Marín MS, López-Cima MF, García-Castro L, Pascual T, Marrón MG, Tardón A. Poly (AT) polymorphism in intron 11 of the XPC DNA repair gene enhances the risk of lung cancer. Cancer Epidemiol Biomarkers Prev. 2004;13:1788–93.PubMed

36.

Sugasawa K, Shimizu Y, Iwai S, Hanaoka F. A molecular mechanism for DNA damage recognition by the xeroderma pigmentosum group C protein complex. DNA Repair. 2002;1:95–107.PubMedCrossRef

37.

Araki M, Masutani C, Takemura M. Centrosome protein centrin 2/caltractin 1 is part of the xeroderma pigmentosum group C complex that initiates global genome nucleotide excision repair. J Biol Chem. 2001;276:18665–72.PubMedCrossRef

38.

Yasuda G, Nishi R, Watanabe E, Mori T, Iwai S, Orioli D, et al. In vivo destabilization and functional defects of the xeroderma pigmentosum C protein caused by a pathogenic missense mutation. Mol Cell Biol. 2007;27:6606–14.PubMedCrossRef

39.

40.

Yuan L, Gu X, Shao J, Wang M, Wang M, Zhu Q, et al. Cyclin D1 G870A polymorphism is associated with risk and clinicopathologic characteristics of bladder cancer. DNA Cell Biol. 2010;29:611–7.PubMedCrossRef

41.

Jiang DK, Ren WH, Yao L, Wang WZ, Peng B, Yu L. Meta-analysis of association between TP53 Arg72Pro polymorphism and bladder cancer risk. Urology. 2010;76:765.e1–7.CrossRef

42.

Li F, Li C, Jiang Z, Ma N, Gao X. XRCC3 T241 M polymorphism and bladder cancer risk: a meta-analysis. Urology. 2011;77:511.e1–5.CrossRef

43.

Francisco G, Menezes PR, Eluf-Neto J, Chammas R. XPC polymorphisms play a role in tissue-specific carcinogenesis: a meta-analysis. Eur J Hum Genet. 2008;16:724–34.PubMedCrossRef

44.

Benhamou S, Lee WJ, Alexandrie AK, Boffetta P, Bouchardy C, Butkiewicz D, et al. Meta- and pooled analyses of the effects of glutathione S-transferase M1 polymorphisms and smoking on lung cancer risk. Carcinogenesis. 2002;23:1343–50.PubMedCrossRef

45.

Morrison AS, Buring JE, Verhoek WG, Aoki K, Leck I, Ohno Y, et al. An international study of smoking and bladder cancer. J Urol. 1984;131:650–4.PubMed

46.

Benhamou S, Sarasin A. ERCC2/XPD gene polymorphisms and lung cancer: a HuGE review. Am J Epidemiol. 2005;161:1–14.PubMedCrossRef

47.

Friedberg EC. DNA damage and repair. Nature. 2003;421:436–40.PubMedCrossRef

Title: An association between XPC Lys939Gln polymorphism and the risk of bladder cancer: a meta-analysis
Authors: Yan Zhang
Xinhua Wang
Wei Zhang
Shengkai Gong
Publication date: 01-04-2013
Publisher: Springer Netherlands
Published in: Tumor Biology / Issue 2/2013
Print ISSN: 1010-4283
Electronic ISSN: 1423-0380
DOI: https://doi.org/10.1007/s13277-012-0633-7

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