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Dupuytren’sdisease 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-β1) 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-β1 in Dupuytren’sdisease, 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-β1 with the risk of developing Dupuytren’sdisease. A polymerase chain reaction-restriction fragment length polymorphism method was used for genotyping TGF-β1 polymorphisms. DNA samples from 135 patients with Dupuytren’sdisease and 200 control subjects were examined. There was no statistically significant difference in TGF-β1 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-β1 polymorphisms are not associated with a risk of developing Dupuytren’sdisease. 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-β1. To our knowledge, this is the first report of a case-control association study in Dupuytren’sdisease using single nucleotide polymorphisms in TGF-β1
The Journal of Bone & Joint Surgery British Volume
Debate continues about the origin of Dupuytren’sdisease, which is usually in the palm but is seen elsewhere as ectopic lesions. We describe a young patient with Dupuytren’sdisease extending proximal to the wrist crease in continuity with the palmar lesion. Our findings support the view that the condition starts within the palmar connective tissue, but there is no palmar aponeurosis in the forearm and the proximal extension probably started in the deep layer of the superficial fascia