Carcinogenesis, Vol. 22, No. 6, 899-904,
June 2001
© 2001 Oxford University Press
MOLECULAR EPIDEMIOLOGY AND CANCER PREVENTION |
Polymorphisms of the DNA repair gene XPD: correlations with risk of basal cell carcinoma revisited
National Institute for Occupational Health, DK-2100 Copenhagen O, Denmark,
1 Department of Biochemistry, The Johns Hopkin's School of Public Health, Baltimore, MD 21250, USA and
2 Institute of Human Genetics, University of Aarhus, DK-8000 Aarhus C, Denmark
The XPD gene product has a dual function in basal transcription and in nucleotide excision repair. We have previously reported that two polymorphisms in the gene, one silent mutation in codon 156 of exon 6 and one giving rise to a Lys
Gln substitution in codon 751 of exon 23, showed signs of being associated with basal cell carcinoma in a Scandinavian study group of psoriasis patients and non-psoriatics with and without basal cell carcinoma [Dybdahl, Vogel, Frentz, Wallin and Nexø (1999) Cancer Epidemiol. Biomark. Prev., 8, 77–81]. In both polymorphisms, the CC genotype appeared to be protective against basal cell carcinoma. Here, we have genotyped an American study group of basal cell carcinoma patients and controls without skin cancer for the two polymorphisms. In addition, we studied an AG polymorphism in codon 312 of exon 10, which results in an AspAsn substitution in a conserved region of XPD. In the whole study group, subjects carrying the AA and AC genotype in exon 6 were at 1.9-fold higher risk of basal cell carcinoma (P = 0.062, CI 0.96–3.75). If only subjects without a family history of non-melanoma skin cancer were included, subjects carrying AA or AC genotype were at 3.3-fold higher risk of basal cell carcinoma (P = 0.007, CI 1.35–8.18). Among subjects with a family history of non-melanoma skin cancer, subjects with an AG or AA genotype in codon 312 of exon 10 were at 5.25-fold increased risk of basal cell carcinoma (P = 0.027, CI 1.15–23.93). A protective effect of the CC genotype in exon 23 could not be confirmed. Cases with a family history of skin cancer had statistically significantly different allele frequencies of the polymorphisms in exon 6 and exon 10 from cases without family history of non-melanoma skin cancer. Our results indicate that the exon 6A allele is a risk factor in basal cell carcinoma.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  A. J. Vangsted, T. W. Klausen, P. Gimsing, N. F. Andersen, N. Abildgaard, H. Gregersen, and U. Vogel A polymorphism in NFKB1 is associated with improved effect of interferon-{alpha} maintenance treatment of patients with multiple myeloma after high-dose treatment with stem cell support Haematologica, September 1, 2009; 94(9): 1274 - 1281. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. Yin, U. Vogel, Y. Ma, R. Qi, and H. Wang HapMap-based study of the DNA repair gene ERCC2 and lung cancer susceptibility in a Chinese population Carcinogenesis, July 1, 2009; 30(7): 1181 - 1185. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 W. Wu, W. Zhang, R. Qiao, D. Chen, H. Wang, Y. Wang, S. Zhang, G. Gao, A. Gu, J. Shen, et al. Association of XPD Polymorphisms with Severe Toxicity in Non-Small Cell Lung Cancer Patients in a Chinese Population Clin. Cancer Res., June 1, 2009; 15(11): 3889 - 3895. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. Segerback, M. Strozyk, E. Snellman, and K. Hemminki Repair of UV Dimers in Skin DNA of Patients with Basal Cell Carcinoma Cancer Epidemiol. Biomarkers Prev., September 1, 2008; 17(9): 2388 - 2392. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
F. Wang, D. Chang, F.-l. Hu, H. Sui, B. Han, D.-d. li, and Y.-s. Zhao DNA Repair Gene XPD Polymorphisms and Cancer Risk: A Meta-analysis Based on 56 Case-Control Studies Cancer Epidemiol. Biomarkers Prev., March 1, 2008; 17(3): 507 - 517. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. D. Crew, M. D. Gammon, M. B. Terry, F. F. Zhang, L. B. Zablotska, M. Agrawal, J. Shen, C.-M. Long, S. M. Eng, S. K. Sagiv, et al. Polymorphisms in Nucleotide Excision Repair Genes, Polycyclic Aromatic Hydrocarbon-DNA Adducts, and Breast Cancer Risk Cancer Epidemiol. Biomarkers Prev., October 1, 2007; 16(10): 2033 - 2041. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Chen, A. M. Kamat, M. Huang, H.B. Grossman, C. P. Dinney, S. P. Lerner, X. Wu, and J. Gu High-order interactions among genetic polymorphisms in nucleotide excision repair pathway genes and smoking in modulating bladder cancer risk Carcinogenesis, October 1, 2007; 28(10): 2160 - 2165. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. M. McCarty, T. J. Smith, W. Zhou, E. Gonzalez, Q. Quamruzzaman, M. Rahman, G. Mahiuddin, L. Ryan, L. Su, and D. C. Christiani Polymorphisms in XPD (Asp312Asn and Lys751Gln) genes, sunburn and arsenic-related skin lesions Carcinogenesis, August 1, 2007; 28(8): 1697 - 1702. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Banerjee, J. Sarkar, J. K. Das, A. Mukherjee, A. K. Sarkar, L. Mondal, and A. K. Giri Polymorphism in the ERCC2 codon 751 is associated with arsenic-induced premalignant hyperkeratosis and significant chromosome aberrations Carcinogenesis, March 1, 2007; 28(3): 672 - 676. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Queille, L. Luron, A. Spatz, M. F. Avril, V. Ribrag, P. Duvillard, C. Hiesse, A. Sarasin, J. P. Armand, and L. Daya-Grosjean Analysis of skin cancer risk factors in immunosuppressed renal transplant patients shows high levels of UV-specific tandem CC to TT mutations of the p53 gene Carcinogenesis, March 1, 2007; 28(3): 724 - 731. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. E. Mechanic, R. C. Millikan, J. Player, A. R. de Cotret, S. Winkel, K. Worley, K. Heard, K. Heard, C.-K. Tse, and T. Keku Polymorphisms in nucleotide excision repair genes, smoking and breast cancer in African Americans and whites: a population-based case-control study Carcinogenesis, July 1, 2006; 27(7): 1377 - 1385. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. C. Millikan, A. Hummer, C. Begg, J. Player, A. R. de Cotret, S. Winkel, H. Mohrenweiser, N. Thomas, B. Armstrong, A. Kricker, et al. Polymorphisms in nucleotide excision repair genes and risk of multiple primary melanoma: the Genes Environment and Melanoma Study Carcinogenesis, March 1, 2006; 27(3): 610 - 618. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Bigler, C. M. Ulrich, T. Kawashima, J. Whitton, and J. D. Potter DNA Repair Polymorphisms and Risk of Colorectal Adenomatous or Hyperplastic Polyps Cancer Epidemiol. Biomarkers Prev., November 1, 2005; 14(11): 2501 - 2508. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. N. Silva, O. M. Gil, V. C. Oliveira, M. N. Cabral, A. P. Azevedo, A. Faber, I. Manita, T. C. Ferreira, E. Limbert, J. E. Pina, et al. Association of Polymorphisms in ERCC2 Gene with Non-Familial Thyroid Cancer Risk Cancer Epidemiol. Biomarkers Prev., October 1, 2005; 14(10): 2407 - 2412. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. J. Marsit, J. K. Wiencke, M. Liu, and K. T. Kelsey The race associated allele of Semaphorin 3B (SEMA3B) T415I and its role in lung cancer in African-Americans and Latino-Americans Carcinogenesis, August 1, 2005; 26(8): 1446 - 1449. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. B. Schabath, G. L. Delclos, H. B. Grossman, Y. Wang, S. P. Lerner, R. M. Chamberlain, M. R. Spitz, and X. Wu Polymorphisms in XPD Exons 10 and 23 and Bladder Cancer Risk Cancer Epidemiol. Biomarkers Prev., April 1, 2005; 14(4): 878 - 884. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. Benhamou and A. Sarasin ERCC2 /XPD Gene Polymorphisms and Lung Cancer: A HuGE Review Am. J. Epidemiol., January 1, 2005; 161(1): 1 - 14. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. B. Terry, M. D. Gammon, F. F. Zhang, S. M. Eng, S. K. Sagiv, A. B. Paykin, Q. Wang, S. Hayes, S. L. Teitelbaum, A. I. Neugut, et al. Polymorphism in the DNA Repair Gene XPD, Polycyclic Aromatic Hydrocarbon-DNA Adducts, Cigarette Smoking, and Breast Cancer Risk Cancer Epidemiol. Biomarkers Prev., December 1, 2004; 13(12): 2053 - 2058. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 H. W. Mohrenweiser Genetic Variation and Exposure Related Risk Estimation: Will Toxicology Enter a New Era? DNA Repair and Cancer as a Paradigm Toxicol Pathol, January 1, 2004; 32(1_suppl): 136 - 145. [Abstract] [PDF]
|
|
|
|
|
|
B. A. Nexo, U. Vogel, A. Olsen, T. Ketelsen, Z. Bukowy, B. L. Thomsen, H. Wallin, K. Overvad, and A. Tjonneland A specific haplotype of single nucleotide polymorphisms on chromosome 19q13.2-3 encompassing the gene RAI is indicative of post-menopausal breast cancer before age 55 Carcinogenesis, May 1, 2003; 24(5): 899 - 904. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
X. Wu, H. Zhao, Q. Wei, C. I. Amos, K. Zhang, Z. Guo, Y. Qiao, W. K. Hong, and M. R. Spitz XPA polymorphism associated with reduced lung cancer risk and a modulating effect on nucleotide excision repair capacity Carcinogenesis, March 1, 2003; 24(3): 505 - 509. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. L. Goode, C. M. Ulrich, and J. D. Potter Polymorphisms in DNA Repair Genes and Associations with Cancer Risk Cancer Epidemiol. Biomarkers Prev., December 1, 2002; 11(12): 1513 - 1530. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Yin, E. Rockenbauer, M. Hedayati, N. R. Jacobsen, U. Vogel, L. Grossman, L. Bolund, and B. A. Nexo Multiple Single Nucleotide Polymorphisms on Human Chromosome 19q13.2-3 Associate with Risk of Basal Cell Carcinoma Cancer Epidemiol. Biomarkers Prev., November 1, 2002; 11(11): 1449 - 1453. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. Benhamou and A. Sarasin ERCC2/XPD gene polymorphisms and cancer risk Mutagenesis, November 1, 2002; 17(6): 463 - 469. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. C. Stern, L. R. Johnson, D. A. Bell, and J. A. Taylor XPD Codon 751 Polymorphism, Metabolism Genes, Smoking, and Bladder Cancer Risk Cancer Epidemiol. Biomarkers Prev., October 1, 2002; 11(10): 1004 - 1011. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
U. Vogel, P. Moller, L. Dragsted, S. Loft, A. Pedersen, and B. Sandstrom Inter-individual variation, seasonal variation and close correlation of OGG1 and ERCC1 mRNA levels in full blood from healthy volunteers Carcinogenesis, September 1, 2002; 23(9): 1505 - 1509. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. Rockenbauer, M. H. Bendixen, Z. Bukowy, J. Yin, N. R. Jacobsen, M. Hedayati, U. Vogel, L. Grossman, L. Bolund, and B. A. Nexo Association of chromosome 19q13.2-3 haplotypes with basal cell carcinoma: tentative delineation of an involved region using data for single nucleotide polymorphisms in two cohorts Carcinogenesis, July 1, 2002; 23(7): 1149 - 1153. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S.-M. Hou, S. Falt, S. Angelini, K. Yang, F. Nyberg, B. Lambert, and K. Hemminki The XPD variant alleles are associated with increased aromatic DNA adduct level and lung cancer risk Carcinogenesis, April 1, 2002; 23(4): 599 - 603. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 W. Zhou, G. Liu, D. P. Miller, S. W. Thurston, L. L. Xu, J. C. Wain, T. J. Lynch, L. Su, and D. C. Christiani Gene-Environment Interaction for the ERCC2 Polymorphisms and Cumulative Cigarette Smoking Exposure in Lung Cancer Cancer Res., March 1, 2002; 62(5): 1377 - 1381. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y. Qiao, M. R. Spitz, H. Shen, Z. Guo, S. Shete, M. Hedayati, L. Grossman, H. Mohrenweiser, and Q. Wei Modulation of repair of ultraviolet damage in the host-cell reactivation assay by polymorphic XPC and XPD/ERCC2 genotypes Carcinogenesis, February 1, 2002; 23(2): 295 - 299. [Abstract] [Full Text] [PDF]
|
|