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Epidemiology and Cancer Control |
Department of Neurological Surgery (M.W., R.M., M.M., J.D.S., J.K.W.), Comprehensive Cancer Center Biostatistics Core (A.M.), Department of Epidemiology and Biostatistics (J.W.), University of California San Francisco, San Francisco, CA 94143; Department of Genetics and Complex Diseases and Environmental Health, Harvard School of Public Health, Boston, MA 02115 (K.T.K., M.L.); University of Texas M.D. Anderson Cancer Center, Houston, TX 77030 (K.A.); USA
2 Address correspondence to Margaret Wrensch, University of California San Francisco, Department of Neurological Surgery, 44 Page St., Suite 503, San Francisco, CA 94102, USA (wrensch{at}itsa.ucsf.edu).
Abstract
ERCC2 and ERCC1 are important in DNA nucleotide excision repair and lie on chromosome 19q13.3 near a putative glioma suppressor region. We genotyped constitutive variants ERCC1 C8092A and ERCC2 K751Q and R156R in approximately 450 adults with glioma and 500 controls from two independent population-based series, uniformly reviewed patients' tumors to determine histopathologic category, and determined a variety of tumor markers among astrocytic tumors. Odds ratios (ORs) for glioblastoma for those carrying two ERCC1 A alleles versus none or one were 1.67 in series 1 and 1.64 in series 2, which yielded a combined OR of 1.67 (95% CI, 0.93-3.02; P = 0.09), adjusted for age, gender, ethnicity, and series. Odds ratios for the ERCC2 variants were not consistently elevated or reduced for the two series in all cases versus controls. However, among whites, for those with ERCC2 K751Q genotype QQ versus QK/KK, the OR for nonglioblastoma histologies versus controls was 1.82 (95% CI, 0.97-3.44; P = 0.06). Also, among whites, glioma patients were significantly more likely than controls to be homozygous for variants in both ERCC1 C8092A and ERCC2 K751Q (OR, 3.2; 95% CI, 1.1-9.3). Given the numbers of comparisons made, these findings could be due to chance. However, the results might warrant clarification in additional series in conjunction with the nearby putative glioma suppressor genes (GLTSCR1 and GLTSCR2).
References
Affatato, A.A., Wolfe, K.J., Lopez, M.S., Hallberg, C., Ammenheuser, M.M., and Abdel-Rahman, S.Z. (2004) Effect of XPD/ERCC2 poly morphisms on chromosome aberration frequencies in smokers and on sensitivity to the mutagenic tobacco-specific nitrosamine NNK. Environ. Mol. Mutagen. 44, 65-73.[CrossRef][Web of Science][Medline]
Aiub, C.A., Mazzei, J.L., Pinto, L.F., and Felzenszwalb, I. (2004) Participation of BER and NER pathways in the repair of DNA lesions induced at low N-nitrosodiethylamine concentrations. Toxicol. Lett. 154, 133-142.[CrossRef][Web of Science][Medline]
Benhamou, S., and Sarasin, A. (2002) ERCC2/XPD gene polymorphisms and cancer risk. Mutagenesis 17, 463-469.
Blumberg, S.J., Luke, J.V., and Cynamon, M.L. (2004) Has cord-cutting cut into random-digit-dialed health surveys? The prevalence and impact of wireless substitution. In: Cohen, S.B., and Lepkowski, J.M. (Eds.), Eighth Conference on Health Survey Research Methods. Hyattsville, Md.: National Center for Health Statistics.
Boiteux, S., Gellon, L., and Guibourt, N. (2002) Repair of 8-oxoguanine in Saccharomyces cerevisiae: Interplay of DNA repair and replication mechanisms. Free Radic. Biol. Med. 32, 1244-1253.[CrossRef][Web of Science][Medline]
Caggana, M., Kilgallen, J., Conroy, J.M., Wiencke, J.K., Kelysey, K.T., Miike, R., Chen, P., and Wrensch, M.R. (2001) Associations between ERCC2 polymorphisms and gliomas. Cancer Epidemiol. Biomarkers Prev. 10, 355-360.
Chen, J., Larochelle, S., Li, X., and Suter, B. (2003) Xpd/Ercc2 regulates CAK activity and mitotic progression. Nature 424, 228-232.[CrossRef][Medline]
Chen, P., Wiencke, J., Aldape, K., Kesler-Diaz, A., Miike, R., Kelsey, K., Lee, M., Liu, J., and Wrensch, M. (2000) Association of an ERCC1 polymor phism with adult-onset glioma. Cancer Epidemiol. Biomarkers Prev. 9, 843-847.
Chen, P., Aldape, K., Wiencke, J.K., Kelsey, K.T., Miike, R., Davis, R.L., Liu, J., Kesler-Diaz, A., Takahashi, M., and Wrensch, M. (2001) Ethnicity delineates different genetic pathways in malignant glioma. Cancer Res. 61, 3949-3954.
Chen, Y.C., and Hunter, D.J. (2005) Molecular epidemiology of cancer. CA Cancer J. Clin. 55, 45-54.
Czeczot, H., Tudek, B., Lambert, B., Laval, J., and Boiteux, S. (1991) Esch erichia coli Fpg protein and UvrABC endonuclease repair DNA damage induced by methylene blue plus visible light in vivo and in vitro. J. Bacteriol. 173, 3419-3424.
David-Beabes, G.L., Lunn, R.M., and London, S.J. (2001) No association between the XPD (Lys751Gln) polymorphism or the XRCC3 (Thr241Met) polymorphism and lung cancer risk. Cancer Epidemiol. Biomarkers Prev. 10, 911-912.
De Preter, K., Speleman, F., Combaret, V., Lunec, J., Laureys, G., Eussen, B.H., Francotte, N., Board, J., Pearson, A.D., De Paepe, A., Van Roy, N., and Vandesompele, J. (2002) Quantification of MYCN, DDX1, and NAG gene copy number in neuroblastoma using a real-time quantita tive PCR assay. Mod. Pathol. 15, 159-166.[CrossRef][Web of Science][Medline]
Edworthy, S., Fritzler, M., Whitehead, C., Martin, L., and Rattner, J.B. (2000) ASE-1: An autoantigen in systemic lupus erythematosus. Lupus 9, 681-687.
Gellon, L., Barbey, R., Auffret van der Kemp, P., Thomas, D., and Boit eux, S. (2001) Synergism between base excision repair, mediated by the DNA glycosylases Ntg1 and Ntg2, and nucleotide excision repair in the removal of oxidatively damaged DNA bases in Saccharomyces cerevisiae. Mol. Genet. Genomics 265, 1087-1096.[CrossRef][Web of Science][Medline]
Giglia, G., Bouffet, E., Jouvet, A., Ohgaki, H., Kleihues, P., and Sarasin, A. (1999) Molecular analysis of glioma and skin-tumour alterations in a xeroderma-pigmentosum child. Int. J. Cancer 81, 345-350.[CrossRef][Web of Science][Medline]
Goode, E.L., Ulrich, C.M., and Potter, J.D. (2002) Polymorphisms in DNA repair genes and associations with cancer risk. Cancer Epidemiol. Biomarkers Prev. 11, 1513-1530.
Hoeijmakers, J.H.J., Weeda, G., Troelstra, C., van Duin, M., Wiegant, J., van der Ploeg, M., Geurts van Kessel, A., Westerveld, A., and Bootsma, D. (1989) (Sub)chromosomal localization of the human excision repair genes ERCC-3 and -6, and identification of a gene (ASE-1) overlapping with ERCC-1. Cytogenet. Cell Genet. 51, 1014.
Hou, S.M., Falt, S., Angelini, S., Yang, K., Nyberg, F., Lambert, B., and Hemminki, K. (2002) The XPD variant alleles are associated with increased aromatic DNA adduct level and lung cancer risk. Carcinogenesis 23, 599-603.
Kollmeyer, T.M., Yang, P., Buckner, K., Bamlet, W., Ballman, K.V., and Jen kins, R.B. (2004) A polymorphism in GLTSCR1 is associated with the development of oligodendrogliomas. Neuro-Oncology 4, 327 (abstract EP-10).
Kraemer, K.H., Lee, M.M., and Scotto, J. (1984) DNA repair protects against cutaneous and internal neoplasia: Evidence from xeroderma pigmento sum. Carcinogenesis 5, 511-514.
Krishnan, G., Felini, M., Carozza, S.E., Miike, R., Chew, T., and Wrensch, M. (2003) Occupation and adult gliomas in the San Francisco Bay Area. J. Occup. Environ. Med. 45, 639-647.[Web of Science][Medline]
Liang, G., Xing, D., Miao, X., Tan, W., Yu, C., Lu, W., and Lin, D. (2003) Sequence variations in the DNA repair gene XPD and risk of lung cancer in a Chinese population. Int. J. Cancer 105, 669-673.[CrossRef][Web of Science][Medline]
Lin, J.J., and Sancar, A. (1989) A new mechanism for repairing oxidative damage to DNA: (A)BC excinuclease removes AP sites and thymine glycols from DNA. Biochemistry 28, 7979-7984.[CrossRef][Medline]
Lunn, R.M., Helzlsouer, K.J., Parshad, R., Umbach, D.M., Harris, E.L., San ford, K.K., and Bell, D.A. (2000) XPD polymorphisms: Effects on DNA repair proficiency. Carcinogenesis 21, 551-555.
Moller, P., Wallin, H., Dybdahl, M., Frentz, G., and Nexo, B.A. (2000) Pso riasis patients with basal cell carcinoma have more repair-mediated DNA strand-breaks after UVC damage in lymphocytes than psoriasis patients without basal cell carcinoma. Cancer Lett. 151, 187-192.[CrossRef][Web of Science][Medline]
Mort, R., Mo, L., McEwan, C., and Melton, D.W. (2003) Lack of involvement of nucleotide excision repair gene polymorphisms in colorectal cancer. Br. J. Cancer 89, 333-337.[CrossRef][Web of Science][Medline]
Ng, P.C., and Henikoff, S. (2002) Accounting for human polymorphisms predicted to affect protein function. Genome Res. 12, 436-446.
Qiao, Y., Spitz, M.R., Shen, H., Guo, Z., Shete, S., Hedayati, M., Gross man, L., Mohrenweiser, H., and Wei, Q. (2002) Modulation of repair of ultraviolet damage in the host-cell reactivation assay by polymorphic XPC and XPD/ERCC2 genotypes. Carcinogenesis 23, 295-299.
R Development Core Team (2005) R: A Language and Environment for Statistical Computing. Vienna, Austria. Available at http://www.R-project.org.
Rieder, M.J., Livingston, R.J., Braun, A.C., Montoya, M.A., Chung, M.W., Miyamoto, K.E., Nguyen, C.P., Nguyen, D.A., Poel, C.L., Robertson, P.D., Schackwitz, W.S., Sherwood, J.K., Witrack, L.A., and Nickerson, D.A. (2002). Homo-sapiens excision repair cross-complementing deficiency, complementation group 1 (ERCC1) gene, and complete cds. NCBI (National Center for Bioinformatics). Accession #AF512555. (NIEHS-SNPs, Environmental Genome Project, NIEHS ES15478, Department of Genome Sciences, Seattle, Wash.) Available at http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=21105796.
Ronen, A., and Glickman, B.W. (2001) Human DNA repair genes. Environ. Mol. Mutagen. 37, 241-283.[CrossRef][Web of Science][Medline]
Sadetzki, S., Flint-Richter, P., Starinsky, S., Novikov, I., Lerman, Y., Gold man, B., and Friedman, E. (2005) Genotyping of patients with sporadic and radiation-associated meningiomas. Cancer Epidemiol. Biomarkers Prev. 14, 969-976.
SAS Institute (1990) SAS Procedures Guide—Version 6. Cary, N.C.: SAS Institute.
Schaid, D.J., Rowland, C.M., Tines, D.E., Jacobson, R.M., and Poland, G.A. (2002) Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am. J. Hum. Genet. 70, 425-434.[CrossRef][Web of Science][Medline]
Scott, A.D., Neishabury, M., Jones, D.H., Reed, S.H., Boiteux, S., and Waters, R. (1999) Spontaneous mutation, oxidative DNA damage, and the roles of base and nucleotide excision repair in the yeast Saccharo myces cerevisiae. Yeast 15, 205-218.[CrossRef][Web of Science][Medline]
Simmons, M.L., Lamborn, K.R., Takahashi, M., Chen, P., Israel, M.A., Berger, M.S., Godfrey, T., Nigro, J., Prados, M., Chang, S., Barker, F.G., II, and Aldape, K. (2001) Analysis of complex relationships between age, p53, epidermal growth factor receptor, and survival in glioblastoma patients. Cancer Res. 61, 1122-1128.
Smith, J.S., Tachibana, I., Pohl, U., Lee, H.K., Thanarajasingam, U., Portier, B.P., Ueki, K., Ramaswamy, S., Billings, S.J., Mohrenweiser, H.W., Louis, D.N., and Jenkins, R.B. (2000) A transcript map of the chromosome 19q-arm glioma tumor suppressor region. Genomics 64, 44-50.[CrossRef][Web of Science][Medline]
Spitz, M.R., Wu, X., Wang, Y., Wang, L.E., Shete, S., Amos, C.I., Guo, Z., Lei, L., Mohrenweiser, H., and Wei, Q. (2001) Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients. Cancer Res. 61, 1354-1357.
Spitz, M.R., Wu, X., and Mills, G. (2005) Integrative epidemiology: From risk assessment to outcome prediction. J. Clin. Oncol. 23, 267-275.
Sturgis, E.M., Zheng, R., Li, L., Castillo, E.J., Eicher, S.A., Chen, M., Strom, S.S., Spitz, M.R., and Wei, Q. (2000) XPD/ERCC2 polymorphisms and risk of head and neck cancer: A case-control analysis. Carcinogenesis 21, 2219-2223.
Swanson, R.L., Morey, N.J., Doetsch, P.W., and Jinks-Robertson, S. (1999) Overlapping specificities of base excision repair, nucleotide excision repair, recombination, and translesion synthesis pathways for DNA base damage in Saccharomyces cerevisiae. Mol. Cell. Biol. 19, 2929-2935.
Whitehead, C.M., Winkfein, R.J., Fritzler, M.J., and Rattner, J.B. (1997) ASE-1: A novel protein of the fibrillar centres of the nucleolus and nucleolus organizer region of mitotic chromosomes. Chromosoma 106, 493-502.[CrossRef][Web of Science][Medline]
Wiemels, J.L., Wiencke, J.K., Sison, J.D., Miike, R., McMillan, A., and Wrensch, M. (2002) History of allergies among adults with glioma and controls. Int. J. Cancer 98, 609-615.[CrossRef][Web of Science][Medline]
Wrensch, M., Lee, M., Miike, R., Newman, B., Barger, G., Davis, R., Wiencke, J., and Neuhaus, J. (1997) Familial and personal medical history of cancer and nervous system conditions among adults with glioma and controls. Am. J. Epidemiol. 145, 581-593.
Wrensch, M., Kelsey, K.T., Liu, M., Miike, R., Moghadassi, M., Aldape, K., McMillan, A., and Wiencke, J.K. (2004) Glutathione-S-transferase variants and adult glioma. Cancer Epidemiol. Biomarkers Prev. 13, 461-467.
Xing, D., Tan, W., Wei, Q., and Lin, D. (2002) Polymorphisms of the DNA repair gene XPD and risk of lung cancer in a Chinese population. Lung Cancer 38, 123-129.[CrossRef][Web of Science][Medline]
Zhou, W., Liu, G., Miller, D.P., Thurston, S.W., Xu, L.L., Wain, J.C., Lynch, T.J., Su, L., and Christiani, D.C. (2002) Gene-environment interaction for the ERCC2 polymorphisms and cumulative cigarette smoking expo sure in lung cancer. Cancer Res. 62, 1377-1381.
Zhou, W., Liu, G., Miller, D.P., Thurston, S.W., Xu, L.L., Wain, J.C., Lynch, T.J., Su, L., and Christiani, D.C. (2003) Polymorphisms in the DNA repair genes XRCC1 and ERCC2, smoking, and lung cancer risk. Cancer Epidemiol. Biomarkers Prev. 12, 359-365.
Zhu, Y., Spitz, M.R., Amos, C.I., Lin, J., Schabath, M.B., and Wu, X. (2004) An evolutionary perspective on single-nucleotide polymorphism screen ing in molecular cancer epidemiology. Cancer Res. 64, 2251-2257.
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