- Volume 15 Issue 16
DOI QR Code
XPD Lys751Gln and Asp312Asn Polymorphisms and Susceptibility to Skin Cancer: A Meta-Analysis of 17 Case-control Studies
- Zhu, Hai-Li (Department of Pathology, Nanfang Hospital, Southern Medical University) ;
- Bao, Ji-Ming (Department of Urology, Nanfang Hospital, Southern Medical University) ;
- Lin, Pei-Xin (Department of Pathology, Nanfang Hospital, Southern Medical University) ;
- Li, Wen-Xia (Department of Pathology, Nanfang Hospital, Southern Medical University) ;
- Zou, Zhen-Ning (Department of Pathology, Nanfang Hospital, Southern Medical University) ;
- Huang, Ye-En (Department of Pathology, Nanfang Hospital, Southern Medical University) ;
- Chen, Qing (Department of Epidemiology, School of Public Health and Tropical Medicine, Southern Medical University) ;
- Shen, Hong (Department of Pathology, Nanfang Hospital, Southern Medical University)
- Published : 2014.08.30
Background: Numerous studies have explored the influence of XPD Lys751Gln and/or Asp312Asn polymorphisms on skin cancer susceptibility. However, the results remain inconclusive. To derive a more precise estimation, we conducted a comprehensive search to identify all available published studies and performed a meta-analysis. Materials and Methods: Electronic literature searches of the PubMed, CBM and CNKI databases were performed up to March 2014. Odds ratios (ORs) with 95% confidence intervals (CIs) were applied to assess the strength of associations. Results: Seventeen case-control studies were included with a total sample size of 6, 113 cases and 11, 074 controls for the XPD Lys751Gln polymorphism, and 10 studies (3, 840cases and 7, 637 controls) for the XPD Asp312Asn polymorphism were pooled for analysis. Overall, no significant associations were found between the XPD Lys751Gln polymorphism and skin cancer risk in any genetic model. On stratified analysis by tumor type, XPD Lys751Gln polymorphism was not associated with increased risk of non-melanoma skin cancer, but was significantly related with increased risk of cutaneous melanoma (Gln/Gln vs Lys/Lys: OR=1.15, 95%CI=1.02-1.29, p=0.023; dominant model: OR=1.09, 95%CI=1.01-1.18, p=0.036). For the XPD Asp312Asn polymorphism, no significant association with skin cancer risk was observed in overall or subgroup analyses. Conclusions: The present meta-analysis suggests that the XPD Lys751Gln polymorphism may contribute to the risk of cutaneous melanoma from currently available evidence. Further investigations are needed to obtain more insight into possible roles of these two polymorphisms in skin carcinogenesis.
Supported by : National Natural Science Foundation of China
- Armstrong BK, Kricker A (2001). The epidemiology of UV induced skin cancer. J Photochem Photobiol B, 63, 8-18. https://doi.org/10.1016/S1011-1344(01)00198-1
- Begg CB, Mazumdar M (1994). Operating characteristics of a rank correlation test for publication bias. Biometrics, 50, 1088-101. https://doi.org/10.2307/2533446
- Baccarelli A, Calista D, Minghetti P, et al (2004). XPD gene polymorphism and host characteristics in the association with cutaneous malignant melanoma risk. Br J Cancer, 90, 497-502. https://doi.org/10.1038/sj.bjc.6601385
- Benhamou S, Sarasin A (2002). ERCC2/XPD gene polymorphisms and cancer risk. Mutagenesis, 17, 463-9. https://doi.org/10.1093/mutage/17.6.463
- Capell BC, Tlougan BE, Or low SJ (2009). From the rarest to the most common: insights from progeroid syndromes into skin cancer and aging. J Invest Dermatol, 129, 2340-50. https://doi.org/10.1038/jid.2009.103
- Coin F, Marinoni JC, Rodolfo C, et al (1998). Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH. Nat Genet, 20, 184-8. https://doi.org/10.1038/2491
- Chen DQ, Yao DX, Zhao HY, et al (2012). DNA repair gene ERCC1 and XPD polymorphisms predict glioma susceptibility and prognosis. Asian Pac J Cancer Prev, 13, 2791-4. https://doi.org/10.7314/APJCP.2012.13.6.2791
- DerSimonian R, Laird N (1986). Meta-analysis in clinical trials. Control Clin Trials, 7, 177-88. https://doi.org/10.1016/0197-2456(86)90046-2
- Dybdahl M, Vogel U, Frentz G, et al (1999). Polymorphisms in the DNA repair gene XPD: correlations with risk and age at onset of basal cell carcinoma. Cancer Epidemiol Biomarkers Prev, 8, 77-81.
- Debniak T, Scott RJ, Huzarski T, et al (2006). XPD common variants and their association with melanoma and breast cancer risk. Breast Cancer Res Treat, 98, 209-15. https://doi.org/10.1007/s10549-005-9151-2
- Duan XL, Gong H, Zeng XT, et al (2012). Association between XPD Asp312Asn polymorphism and esophageal cancer susceptibility: a meta-analysis. Asian Pac J Cancer Prev, 13, 3299-303. https://doi.org/10.7314/APJCP.2012.13.7.3299
- Festa F, Kumar R, Sanyal S, et al (2005). Basal cell carcinoma and variants in genes coding for immune response, DNA repair, folate and iron metabolism. Mutat Res, 574, 105-11. https://doi.org/10.1016/j.mrfmmm.2005.01.026
- Guo LY, Jin XP, Niu W, et al (2012). Association of XPD and XRCC1 genetic polymorphisms with hepatocellular carcinoma risk. Asian Pac J Cancer Prev, 13, 4423-6. https://doi.org/10.7314/APJCP.2012.13.9.4423
- Hu YY, Yuan H, Jiang GB, et al (2012). Associations between XPD Asp312Asn polymorphism and risk of head and neck cancer: a meta-analysis based on 7, 122 subjects. PLoS One, 7, 35220. https://doi.org/10.1371/journal.pone.0035220
- Han J, Colditz GA, Liu JS, et al (2005). Genetic variation in XPD, sun exposure, and risk of skin cancer. Cancer Epidemiol Biomarkers Prev, 14, 1539-44. https://doi.org/10.1158/1055-9965.EPI-04-0846
- Ji G, Lin Y, Cao SY, et al (2012). XPC 939A>C and 499C>T polymorphisms and skin cancer risk: a meta-analysis. Asian Pac J Cancer Prev, 13, 4983-8. https://doi.org/10.7314/APJCP.2012.13.10.4983
- Kertat K, Rosdahl I, Sun XF, et al (2008). The Gln/Gln genotype of XPD codon 751 as a genetic marker for melanoma risk and Lys/Gln as an important predictor for melanoma progression: A case control study in the Swedish population. Oncol Rep, 20, 179-83.
- Leiter U, Garbe C (2008). Epidemiology of melanoma and nonmelanoma skin cancer-the role of sunlight. Adv Exp Med Biol, 624, 89-103. https://doi.org/10.1007/978-0-387-77574-6_8
- Lin JS, Eder M, Weinmann S (2011). Behavioral counseling to prevent skin cancer: a systematic review for the U.S. Preventive Services Task Force. Ann Intern Med, 154, 190-201. https://doi.org/10.7326/0003-4819-154-3-201102010-00009
- Lovatt T, Alldersea J, Lear JT, et al (2005). Polymorphism in the nuclear excision repair gene ERCC2/XPD: association between an exon 6-exon 10 haplotype and susceptibility to cutaneous basal cell carcinoma. Hum Mutat, 25, 353-9. https://doi.org/10.1002/humu.20158
- Li C, Hu Z, Liu Z, et al (2006). Polymorphisms in the DNA repair genes XPC, XPD, and XPG and risk of cutaneous melanoma: a case-control analysis. Cancer Epidemiol Biomarkers Prev, 15, 2526-32. https://doi.org/10.1158/1055-9965.EPI-06-0672
- Lamerdin JE, Stilwagen SA, Ramirez MH, et al (1996). Sequence analysis of the ERCC2 gene regions in human, mouse, and hamster reveals three linked genes. Genomics, 34, 399-409. https://doi.org/10.1006/geno.1996.0303
- Lehmann AR (2001). The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. Genes Dev, 15, 15-23. https://doi.org/10.1101/gad.859501
- Li W, Li K, Zhao L, et al (2014). DNA repair pathway genes and lung cancer susceptibility: a meta-analysis. Gene, 538, 361-5. https://doi.org/10.1016/j.gene.2013.12.028
- Liu D, Wu D, Li H, et al (2014). The effect of XPD/ERCC2 Lys751Gln polymorphism on acute leukemia risk: A systematic review and meta-analysis. Gene, 538, 209-16. https://doi.org/10.1016/j.gene.2014.01.049
- Mantel N, Haenszel W (1959). Statistical aspects of the analysis of data from retrospective studies of disease. J Natl Cancer Inst, 22, 719-48.
- Millikan RC, Hummer A, Begg C, et al (2006). Polymorphisms in nucleotide excision repair genes and risk of multiple primary melanoma: the Genes Environment and Melanoma Study. Carcinogenesis, 27, 610-8. https://doi.org/10.1093/carcin/bgi252
- Ma Q, Qi C, Tie C, et al (2013). Genetic polymorphisms of xeroderma pigmentosum group D gene Asp312Asn and Lys751Gln and susceptibility to prostate cancer: A systematic review and meta-analysis. Gene, 530, 309-14. https://doi.org/10.1016/j.gene.2013.08.053
- Pabalan N, Francisco-Pabalan O, Sung L, et al (2010). Metaanalysis of two ERCC2 (XPD) polymorphisms, asp312asn and lys751gln, in breast cancer. Breast Cancer Res Treat, 124, 531-41. https://doi.org/10.1007/s10549-010-0863-6
- Povey JE, Darakhshan F, Robertson K, et al (2007). DNA repair gene polymorphisms and genetic predisposition to cutaneous melanoma. Carcinogenesis, 28, 1087-93.
- Paszkowska-Szczur K, Scott RJ, Serrano-Fernandez P, et al (2013). Xeroderma pigmentosum genes and melanoma risk. Int J Cancer, 133, 1094-100. https://doi.org/10.1002/ijc.28123
- Rubin AI, Chen EH, Ratner D (2005). Basal-cell carcinoma. N Engl J Med, 353, 2262-9. https://doi.org/10.1056/NEJMra044151
- Siegel R, Naishadham D, Jemal A (2012). Cancer statistics, 2012. CA Cancer J Clin, 62, 10-29. https://doi.org/10.3322/caac.20138
- Sancar A, Tang MS (1993). Nucleotide excision repair. Photochem. Photobiol, 57, 905-21. https://doi.org/10.1111/j.1751-1097.1993.tb09233.x
- 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, 604-8.
- Salanti G, Amountza G, Ntzani EE, et al (2005). Hardy-Weinberg equilibrium in genetic association studies: an empirical evaluation of reporting, deviations, and power. Eur J Hum Genet, 13, 840-8. https://doi.org/10.1038/sj.ejhg.5201410
- Thompson JF, Scolyer RA, Kefford RF (2005). Cutaneous melanoma. Lancet, 365, 687-701. https://doi.org/10.1016/S0140-6736(05)17951-3
- Thirumaran RK, Bermejo JL, Rudnai P, et al (2005). Single nucleotide polymorphisms in DNA repair genes and basal cell carcinoma of skin. Carcinogenesis, 27, 1676-81. https://doi.org/10.1093/carcin/bgi381
- Vogel U, Hedayati M, Dybdahl M, et al (2001). Polymorphisms of the DNA repair gene XPD: correlations with risk of basal cell carcinoma revisited. Carcinogenesis, 22, 899-904. https://doi.org/10.1093/carcin/22.6.899
- Weeda G, Hoeijmakers JH (1993). Genetic analysis of nucleotide excision repair inmammalian cells. Semin Cancer Biol, 4, 105-17.
- Winsey SL, Haldar NA, Marsh HP, et al (2000). A variant within the DNA repair gene XRCC3 is associated with the development of melanoma skin cancer. Cancer Res, 60, 5612-6.
- Wood RD, Mitchell M, Sgouros J, et al (2001). Human DNA repair genes. Science, 291, 1284-9. https://doi.org/10.1126/science.1056154
- Weber CA, Salazar EP, Stewart SA, et al (1988). Molecular cloning and biological characterization of a human gene, ERCC2, that corrects the nucleotide excision repair defect in CHO UV5 cells. Mol Cell Biol, 8, 1137-46.
- Wang XW, Vermeulen W, Coursen JD, et al (1996). The XPB and XPD DNA helicases are components of the p53-mediated apoptosis pathway. Genes Dev, 10, 1219-32. https://doi.org/10.1101/gad.10.10.1219
- Yin QH1, Liu C, Hu JB, et al (2013). XPD Lys751Gln and Asp312Asn polymorphisms and gastric cancer susceptibility: a meta-analysis of case-control studies. Asian Pac J Cancer Prev, 14, 231-6. https://doi.org/10.7314/APJCP.2013.14.1.231
- Yin J, Vogel U, Gerdes LU, et al (2003). Twelve single nucleotide polymorphisms on chromosome 19q13.2-13.3: linkage disequilibria and associations with basal cell carcinoma in Danish psoriatic patients. Biochem Genet, 41, 27-37. https://doi.org/10.1023/A:1020970428370
- Yu Z, Chen J, Ford BN, et al (1999). Human DNA repair systems: an overview. Environ Mol Mutagen, 33, 3-20. https://doi.org/10.1002/(SICI)1098-2280(1999)33:1<3::AID-EM2>3.0.CO;2-L
- Yan Y, Liang H, Light M, et al (2014). XPD Asp312Asn and Lys751Gln polymorphisms and breast cancer susceptibility: A meta-analysis. Tumour Biol, 35, 1907-15. https://doi.org/10.1007/s13277-013-1256-3
- Zhang Y, Ding D, Wang X, et al (2011). Lack of association between XPD Lys751Gln and Asp312Asn polymorphisms and colorectal cancer risk: a meta-analysis of case-control studies. Int J Colorectal Dis, 26, 1257-64. https://doi.org/10.1007/s00384-011-1222-8