Twelve single nucleotide polymorphisms on chromosome 19q13.2-13.3: linkage disequilibria and associations with basal cell carcinoma in Danish psoriatic patients

Biochem Genet. 2003 Feb;41(1-2):27-37. doi: 10.1023/a:1020970428370.


The genetic susceptibility to basal cell carcinoma (BCC) among Danish psoriatic patients was investigated in association studies with 12 single nucleotide polymorphisms on chromosome 19q13.2-3. 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). This is in accordance with recent studies of a different group of BCC cases (Rockenbauer et al. (in press) Carcinogenesis; Yin et al. (manuscript submitted for publication). Cancer Epidemiol. Biomarkers Prev), which places two highly influential markers between these two genes. The analysis also confirmed that considerable linkage disequilibrium exists between SNPs both within genes and between genes in this region. The combined studies suggest that genetic variation in nucleotide excision repair is of importance for the development of BCC.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Carcinoma, Basal Cell / etiology
  • Carcinoma, Basal Cell / genetics*
  • Chromosomes, Human, Pair 19
  • DNA Helicases*
  • DNA Mutational Analysis
  • DNA Repair / genetics
  • DNA-Binding Proteins*
  • Denmark
  • Endonucleases*
  • Genetic Predisposition to Disease
  • Humans
  • Linkage Disequilibrium*
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide*
  • Proteins / genetics
  • Psoriasis / complications
  • Psoriasis / genetics*
  • Skin Neoplasms / etiology
  • Skin Neoplasms / genetics*
  • Transcription Factors*
  • Xeroderma Pigmentosum Group D Protein


  • DNA-Binding Proteins
  • Proteins
  • Transcription Factors
  • ERCC1 protein, human
  • Endonucleases
  • DNA Helicases
  • Xeroderma Pigmentosum Group D Protein
  • ERCC2 protein, human