Dupuytren's disease is a benign fibroproliferative disease of unknown aetiology. It is often familial and commonly affects Northern European Caucasian men, but genetic studies have yet to identify the relevant genes.
Transforming growth factor beta one (TGF-beta1) is a multifunctional
cytokine which plays a central role in wound healing and
fibrosis. It stimulates the proliferation of fibroblasts and the deposition of extracellular matrix. Previous studies have implicated
TGF-beta1 in
Dupuytren's disease, suggesting that it may represent a candidate susceptibility gene for this condition. We have investigated the association of four common single nucleotide polymorphisms in
TGF-beta1 with the risk of developing
Dupuytren's disease. A polymerase chain reaction-restriction fragment length polymorphism method was used for genotyping
TGF-beta1 polymorphisms.
DNA samples from 135 patients with
Dupuytren's disease and 200 control subjects were examined. There was no statistically significant difference in
TGF-beta1 genotype or allele frequency distributions between the patients and controls for the
codons 10, 25, -509 and -800 polymorphisms. Our observations suggest that common
TGF-beta1 polymorphisms are not associated with a risk of developing
Dupuytren's disease. These data should be interpreted with caution since the lack of association was shown in only one series of patients with only known, common polymorphisms of
TGF-beta1. To our knowledge, this is the first report of a case-control association study in
Dupuytren's disease using single nucleotide polymorphisms in
TGF-beta1.