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Journal of Bone and Joint Surgery - British Volume, Vol 84-B, Issue 2,
211-215.
doi: 10.1302/0301-620X.84B2.12083 Copyright © 2002 by British Editorial Society of Bone and Joint Surgery Genetic susceptibility in Dupuytrens diseaseTGF-ß1 POLYMORPHISMS AND DUPUYTRENS DISEASEA. Bayat, BSc, MRCS, AFRCS Ed, MRC, Clinical Training Fellow1; J. S. Watson, MRCP, FRCS, Consultant Plastic and Reconstructive Surgeon2; J. K. Stanley, MCh, Orth, FRCS, Professor of Hand Surgery3; A. Alansari, BSc, MSc, Research Scientist1; M. Shah, PhD,FRCS (Plast)2; M. W. J. Ferguson, CBE, PhD, FDS, Professor4; and W. E. R. Ollier, PhD, FRCPath, Professor of Immunogenetics1
1 Centre for Integrated Genomic Medical Research Correspondence should be sent to Dr A. Bayat. Dupuytrens 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-ß1) 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-ß1 in Dupuytrens 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-ß1 with the risk of developing Dupuytrens disease. A polymerase chain reaction-restriction fragment length polymorphism method was used for genotyping TGF-ß1 polymorphisms. DNA samples from 135 patients with Dupuytrens disease and 200 control subjects were examined. There was no statistically significant difference in TGF-ß1 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-ß1 polymorphisms are not associated with a risk of developing Dupuytrens 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-ß1. To our knowledge, this is the first report of a case-control association study in Dupuytrens disease using single nucleotide polymorphisms in TGF-ß1.
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