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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
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Genetic susceptibility in Dupuytren’s disease

TGF-ß1 POLYMORPHISMS AND DUPUYTREN’S DISEASE

A. 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
2 Department of Plastic, Reconstructive and Hand Surgery, Withington Hospital, Nell Lane, West Didsbury, Manchester M20 2LR, UK.
3 Wrightington Hospital, Hall Lane, Wigan, Lancashire WN6 9EP, UK.
4 School of Biological Sciences, University of Manchester, Stopford Building, Oxford Road, Manchester M13 9PT, UK.

Correspondence should be sent to Dr A. Bayat.

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-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 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-ß1 with the risk of developing Dupuytren’s disease. A polymerase chain reaction-restriction fragment length polymorphism method was used for genotyping TGF-ß1 polymorphisms. DNA samples from 135 patients with Dupuytren’s 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 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-ß1. To our knowledge, this is the first report of a case-control association study in Dupuytren’s disease using single nucleotide polymorphisms in TGF-ß1.






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Hip, Knee, Trauma, Upper limb, Foot & Ankle, Paediatrics, Oncology, Spine, Arthroplasty, General