Journal Article

Polymorphisms of the DNA repair gene XPD: correlations with risk of basal cell carcinoma revisited

Ulla Vogel, Mohammad Hedayati, Marianne Dybdahl, Lawrence Grossman and Bjørn Andersen Nexø

in Carcinogenesis

Volume 22, issue 6, pages 899-904
Published in print June 2001 | ISSN: 0143-3334
Published online June 2001 | e-ISSN: 1460-2180 | DOI: http://dx.doi.org/10.1093/carcin/22.6.899
Polymorphisms of the DNA repair gene XPD: correlations with risk of basal cell carcinoma revisited

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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 Asp→Asn 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.

Keywords: BCC, basal cell carcinoma; OR, odds ratio; CI, confidence interval.

Journal Article.  4354 words. 

Subjects: Clinical Cytogenetics and Molecular Genetics

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