A weak association between XPD exon 6 silent C/A polymorphism and BCC development risk was found when comparing single polymorphisms between the two groups.
While it cannot beruled out that the present findings are due to chance, the present results are consistent with previous findings that XPD Arg156Arg is a weak risk factor for basal cell carcinoma.
The results show a significant association between BCC and the A-allele of a polymorphism in ERCCI exon4 (Odds ratio 12;95% Confidence Interval 1.17-124; p(chi2, two-side) = 0.019) and to a lesser extent with XPD exon6 (p = 0.06).
In this paper, we present evidence that alleles of several polymorphisms in the chromosomal region 19q13.2-3, encompassing the genes RAI and XPD, are associated with occurrence of basal cell carcinoma in Caucasian Americans.
We have studied the role of two nucleotide substitutions in the XPD gene, one in exon 23 leading to an amino acid substitution (Lys751Gln) and one silent in exon 6 in relation to basal cell carcinoma (BCC).