Linked Life Data

11375896

Source:http://linkedlifedata.com/resource/pubmed/id/11375896

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2001-5-28
pubmed:abstractText
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 A-->G 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 6(A) allele is a risk factor in basal cell carcinoma.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0143-3334
pubmed:author
pubmed:issnType
Print
pubmed:volume
22
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
899-904
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:11375896-Adult, pubmed-meshheading:11375896-Alleles, pubmed-meshheading:11375896-Carcinoma, Basal Cell, pubmed-meshheading:11375896-Case-Control Studies, pubmed-meshheading:11375896-Codon, pubmed-meshheading:11375896-DNA Helicases, pubmed-meshheading:11375896-DNA Repair, pubmed-meshheading:11375896-DNA-Binding Proteins, pubmed-meshheading:11375896-Exons, pubmed-meshheading:11375896-Female, pubmed-meshheading:11375896-Genetic Predisposition to Disease, pubmed-meshheading:11375896-Humans, pubmed-meshheading:11375896-Male, pubmed-meshheading:11375896-Middle Aged, pubmed-meshheading:11375896-Polymorphism, Genetic, pubmed-meshheading:11375896-Proteins, pubmed-meshheading:11375896-Skin Neoplasms, pubmed-meshheading:11375896-Transcription Factors, pubmed-meshheading:11375896-Xeroderma Pigmentosum Group D Protein
pubmed:year
2001
pubmed:articleTitle
Polymorphisms of the DNA repair gene XPD: correlations with risk of basal cell carcinoma revisited.
pubmed:affiliation
National Institute for Occupational Health, DK-2100 Copenhagen O, Denmark. ubv@ami.dk
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't