Top

International Journal of Colorectal Disease

Published in:

01-10-2011 | Original Article

Lack of association between XPD Lys751Gln and Asp312Asn polymorphisms and colorectal cancer risk: a meta-analysis of case–control studies

Authors: Ying Zhang, Dapeng Ding, Xiaoxue Wang, Zhenglan Zhu, Meiyan Huang, Xiaofeng He

Published in: International Journal of Colorectal Disease | Issue 10/2011

Abstract

Purpose

The published data on the association between xeroderma pigmentosum group D (XPD) Lys751Gln and Asp312Asn polymorphisms and colorectal cancer remained controversial. The present meta-analysis of literatures was performed to derive a more precise estimation of the relationship.

Materials and methods

A comprehensive literature search was conducted to identify all case–control studies of Lys751Gln and Asp312Asn polymorphisms on the susceptibility of different tumor site of colorectal cancer (colon, rectum, and colon/rectum cancer). A total of 22 eligible studies were selected for this meta-analysis, including 3,042 cases and 4,627 controls for Lys751Gln and 1,581 cases and 2,846 controls for Asp312Asn.

Results

Overall, no significantly elevated colorectal cancer risk was found in all genetic models when all studies were pooled into the meta-analysis (for Lys751Gln polymorphism: Lys/Gln vs. Lys/Lys, OR = 1.01, 95% CI = 0.90–1.14; Gln/Gln vs. Lys/Lys, OR = 1.04, 95% CI = 0.85–1.26; dominant model, OR = 1.03, 95% CI = 0.93–1.15; recessive model, OR = 1.04, 95% CI = 0.87–1.25; and for Asp312Asn polymorphism: Asp/Asn vs. Asp/Asp, OR = 1.11, 95% CI = 0.91–1.35; Asn/Asn vs. Asp/Asp, OR = 1.13, 95% CI = 0.87–1.47; dominant model, OR = 1.09, 95% CI = 0.94–1.26; recessive model, OR = 1.11, 95% CI = 0.88–1.41). And for the additive model, individuals carrying the 751Gln or 312Asn allele were not significantly associated with increased risk to colorectal cancer (OR = 1.02, 95% CI = 0.94–1.11, OR = 1.07, 95% CI = 0.95–1.20).

Conclusion

This meta-analysis suggests that XPD Lys751Gln and Asp312Asn polymorphisms may not be associated with colorectal cancer development.

Jemal A, Siegel R, Ward E, Hao Y, Xu J, Thun MJ (2009) Cancer statistics. CA Cancer J Clin 59:225–249PubMedCrossRef

Parkin DM, Bray F, Ferlay J, Pisani P (2005) Global cancer statistics, 2002. CA Cancer J Clin 55:74–108PubMedCrossRef

Mohrenweiser HW, Jones IM (1998) Variation in DNA repair is a factor in cancer susceptibility: a paradigm for the promises and perils of individual and population risk estimation? Mutat Res 400:15–24PubMedCrossRef

Shields PG, Harris CC (2000) Cancer risk and low-penetrance susceptibility genes in gene–environment interactions. J Clin Oncol 18:2309–2315PubMed

Goode EL, Ulrich CM, Potter JD (2002) Polymorphisms in DNA repair genes and associations with cancer risk. Cancer Epidemiol Biomarkers Prev 11:1513–1530PubMed

Hoeijmakers JH (2001) Genome maintenance mechanisms for preventing cancer. Nature 411:366–374PubMedCrossRef

Wood RD, Mitchell M, Sgouros J, Lindahl T (2001) Human DNA repair genes. Science 291:1284–1289PubMedCrossRef

Duell EJ, Wiencke JK, Cheng TJ, Varkonyi A, Zuo ZF, Ashok TD, Mark EJ, Wain JC, Christiani DC, Kelsey KT (2000) Polymorphisms in the DNA repair genes XRCC1 and ERCC2 and biomarkers of DNA damage in human blood mononuclear cells. Carcinogenesis 21:965–971PubMedCrossRef

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

10.

Spitz MR, Wu X, Wang Y, Wang LE, Shete S, Amos CI, Guo Z, Lei L, Mohrenweiser H, Wei Q (2001) Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients. Cancer Res 61:1354–1357PubMed

11.

Shi Q, Wang LE, Bondy ML, Brewster A, Singletary SE, Wei Q (2004) Reduced DNA repair of benzo(a)pyrene diol epoxide-induced adducts and common XPD polymorphisms in breast cancer patients. Carcinogenesis 13:1081–1083

12.

Ramos JM, Ruiz A, Colen R, Lopez ID, Grossman L, Matta JL (2004) DNA repair and breast carcinoma susceptibility in women. Cancer 100:1352–1357PubMedCrossRef

13.

Wei Q, Lee JE, Gershenwald JE, Ross MI, Mansfield PF, Strom SS, Wang LE, Guo Z, Qiao Y, Amos CI, Spitz MR, Duvic M (2003) Repair of UV light-induced DNA damage and risk of cutaneous malignant melanoma. J Natl Cancer Inst 95:308–315PubMedCrossRef

14.

Hu JJ, Hall MC, Grossman L, Hedayati M, McCullough DL, Lohman K, Case LD (2004) Deficient nucleotide excision repair capacity enhances human prostate cancer risk. Cancer Res 64:1197–1201PubMedCrossRef

15.

Hemminki K, Xu G, Angelini S, Snellman E, Jansen CT, Lambert B, Hou SM (2001) XPD exon 10 and 23 polymorphisms and DNA repair in human skin in situ. Carcinogenesis 22:1185–1188PubMedCrossRef

16.

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 58:604–608PubMed

17.

Lunn RM, Helzlsouer KJ, Parshad R, Umbach DM, Harris EL, Sanford KK, Bell DA (2000) XPD polymorphisms: effects on DNA repair proficiency. Carcinogenesis 21:551–555PubMedCrossRef

18.

DerSimonian R, Laird N (1986) Meta-analysis in clinical trials. Control Clin Trials 7:177–188PubMedCrossRef

19.

Mantel N, Haenszel W (1959) Statistical aspects of the analysis of data from retrospective studies of disease. J Natl Cancer Inst 22:719–748PubMed

20.

Egger M, Davey Smith G, Schneider M, Minder C (1997) Bias in meta-analysis detected by a simple, graphical test. BMJ 315:629–634PubMed

21.

Yeh CC, Hsieh LL, Tang R, Chang-Chieh CR, Sung FC (2005) MS-920: DNA repair gene polymorphisms, diet and colorectal cancer risk in Taiwan. Cancer Lett 224:279–288PubMedCrossRef

22.

Skjelbred CF, Saebø M, Wallin H, Nexø BA, Hagen PC, Lothe IM, Aase S, Johnson E, Hansteen IL, Vogel U, Kure EH (2006) Polymorphisms of the XRCC1, XRCC3 and XPD genes and risk of colorectal adenoma and carcinoma, in a Norwegian cohort: a case control study. BMC Cancer 6:67PubMedCrossRef

23.

Moreno V, Gemignani F, Landi S, Gioia-Patricola L, Chabrier A, Blanco I, González S, Guino E, Capellà G, Canzian F (2006) Polymorphisms in genes of nucleotide and base excision repair: risk and prognosis of colorectal cancer. Clin Cancer Res 12:2101–2108PubMedCrossRef

24.

Hansen RD, Sørensen M, Tjønneland A, Overvad K, Wallin H, Raaschou-Nielsen O, Vogel U (2007) XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, alcohol and dietary factors, and risk of colorectal cancer. Mutat Res 619:68–80PubMedCrossRef

25.

Stern MC, Conti DV, Siegmund KD, Corral R, Yuan JM, Koh WP, Yu MC (2007) DNA repair single-nucleotide polymorphisms in colorectal cancer and their role as modifiers of the effect of cigarette smoking and alcohol in the Singapore Chinese Health Study. Cancer Epidemiol Biomarkers Prev 16:2363–2372PubMedCrossRef

26.

Joshi AD, Corral R, Siegmund KD, Haile RW, Le Marchand L, Martínez ME, Ahnen DJ, Sandler RS, Lance P, Stern MC (2009) Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk. Carcinogenesis 30:472–479PubMedCrossRef

27.

Sliwinski T, Krupa R, Wisniewska-Jarosinska M, Pawlowska E, Lech J, Chojnacki J, Blasiak J (2009) Common polymorphisms in the XPD and hOGG1 genes are not associated with the risk of colorectal cancer in a Polish population. Tohoku J Exp Med 218:185–191PubMedCrossRef

28.

Wang LL, Lou Y, Fang CQ, Yuan ZW (2009) Association of single nucleotide polymorphism in XPD with susceptibility of colon cancer in Han population from northeast region of China. Chinese Journal of Cancer Prevention and Treatment 16:1284–1286

29.

Engin AB, Karahalil B, Engin A, Karakaya AE (2010) Oxidative stress, Helicobacter pylori, and OGG1 Ser326Cys, XPC Lys939Gln, and XPD Lys751Gln polymorphisms in a Turkish population with colorectal carcinoma. Genet Test Mol Biomarkers 14:559–564PubMedCrossRef

30.

Wang J, Zhao Y, Jiang J, Gajalakshmi V, Kuriki K, Nakamura S, Akasaka S, Ishikawa H, Suzuki S, Nagaya T, Tokudome S (2010) Polymorphisms in DNA repair genes XRCC1, XRCC3 and XPD, and colorectal cancer risk: a case-control study in an Indian population. J Cancer Res Clin Oncol 136:1517–1525PubMedCrossRef

31.

Jelonek K, Gdowicz-Klosok A, Pietrowska M, Borkowska M, Korfanty J, Rzeszowska-Wolny J, Widlak P (2010) 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 51:343–352PubMedCrossRef

32.

Yeh CC, Sung FC, Tang R, Chang-Chieh CR, Hsieh LL (2007) Association between polymorphisms of biotransformation and DNA-repair genes and risk of colorectal cancer in Taiwan. J Biomed Sci 14:183–193PubMedCrossRef

33.

Le Morvan V, Smith D, Laurand A, Brouste V, Bellott R, Soubeyran I, Mathoulin-Pelissier S, Robert J (2007) Determination of ERCC2 Lys751Gln and GSTP1 Ile105Val gene polymorphisms in colorectal cancer patients: relationships with treatment outcome. Pharmacogenomics 8:1693–1703PubMedCrossRef

34.

Chen YC, Tzeng CH, Chen PM, Lin JK, Lin TC, Chen WS, Jiang JK, Wang HS, Wang WS (2010) Influence of GSTP1 I105V polymorphism on cumulative neuropathy and outcome of FOLFOX-4 treatment in Asian patients with colorectal carcinoma. Cancer Sci 101:530–535PubMedCrossRef

35.

Mort R, Mo L, McEwan C, Melton DW (2003) Lack of involvement of nucleotide excision repair gene polymorphisms in colorectal cancer. Br J Cancer 89:333–337PubMedCrossRef

36.

Stern MC, Butler LM, Corral R, Joshi AD, Yuan JM, Koh WP, Yu MC (2009) Polyunsaturated fatty acids, DNA repair single nucleotide polymorphisms and colorectal cancer in the Singapore Chinese Health Study. J Nutrigenet Nutrigenomics 2:273–279PubMedCrossRef

37.

Artac M, Bozcuk H, Pehlivan S, Akcan S, Pehlivan M, Sever T, Ozdogan M, Savas B (2010) The value of XPD and XRCC1 genotype polymorphisms to predict clinical outcome in metastatic colorectal carcinoma patients with irinotecan-based regimens. J Cancer Res Clin Oncol 136:803–809PubMedCrossRef

38.

Lai JI, Tzeng CH, Chen PM, Lin JK, Lin TC, Chen WS, Jiang JK, Wang HS, Wang WS (2009) Very low prevalence of XPD K751Q polymorphism and its association with XPD expression and outcomes of FOLFOX-4 treatment in Asian patients with colorectal carcinoma. Cancer Sci 100:1261–1266PubMedCrossRef

39.

Cleaver JE (2000) Common pathways for ultraviolet skin carcinogenesis in the repair and replication defective groups of xeroderma pigmentosum. J Dermatol Sci 23:1–11PubMedCrossRef

40.

Au WW, Navasumrit P, Ruchirawat M (2004) Use of biomarkers to characterize functions of polymorphic DNA repair genotypes. Int J Hyg Environ Health 107:301–313CrossRef

41.

Vodicka P, Kumar R, Stetina R, Sanyal S, Soucek P, Haufroid V, Dusinska M, Kuricova M, Zamecnikova M, Musak L, Buchancova J, Norppa H et al (2004) Genetic polymorphisms in DNA repair genes and possible links with DNA repair rates, chromosomal aberrations and single-strand breaks in DNA. Carcinogenesis 25:757–763PubMedCrossRef

42.

Park DJ, Stoehlmacher J, Zhang W, Tsao-Wei DD, Groshen S, Lenz HJ (2001) A Xeroderma pigmentosum group D gene polymorphism predicts clinical outcome to platinum-based chemotherapy in patients with advanced colorectal cancer. Cancer Res 61:8654–8658PubMed

43.

Hirschhorn JN, Lohmueller K, Byrne E (2002) A comprehensive review of genetic association studies. Genet Med 4:45–61PubMedCrossRef

44.

Qiu L, Wang Z, Shi X, Wang Z (2008) Associations between XPC polymorphisms and risk of cancers: a meta-analysis. Eur J Cancer 44:2241–2253PubMedCrossRef

Title: Lack of association between XPD Lys751Gln and Asp312Asn polymorphisms and colorectal cancer risk: a meta-analysis of case–control studies
Authors: Ying Zhang
Dapeng Ding
Xiaoxue Wang
Zhenglan Zhu
Meiyan Huang
Xiaofeng He
Publication date: 01-10-2011
Publisher: Springer-Verlag
Published in: International Journal of Colorectal Disease / Issue 10/2011
Print ISSN: 0179-1958
Electronic ISSN: 1432-1262
DOI: https://doi.org/10.1007/s00384-011-1222-8

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Lack of association between XPD Lys751Gln and Asp312Asn polymorphisms and colorectal cancer risk: a meta-analysis of case–control studies

Abstract

Purpose

Materials and methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose

Materials and methods

Results

Conclusion

Please log in to get access to this content

Other articles of this Issue 10/2011

Cyclin D1 G870A polymorphism and colorectal cancer susceptibility: a meta-analysis of 20 populations

Protein biomarkers in exfoliated cells collected from the human rectal mucosa: implications for colorectal disease detection and monitoring

Intractable flatus incontinence treated by percutaneous tibial nerve stimulation

Isolation and characterization of spheroid cells from the HT29 colon cancer cell line

Multiple mutations in the Kras gene in colorectal cancer: review of the literature with two case reports

Sweeping KRAS generalizations: are we depriving patients of an effective treatment? A novel KRAS mutation and dramatic response to panitumumab in a patient with metastatic colorectal cancer