Genetic susceptibility in Dupuytren's disease

A. Bayat, J. S. Watson, J. K. Stanley, A. Alansari, M. Shah, M. W.J. Ferguson, W. E.R. Ollier

Research output: Contribution to journalArticle

27 Citations (Scopus)

Abstract

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-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'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-β1 with the risk of developing Dupuytren's disease. A polymerase chain reaction-restriction fragment length polymorphism method was used for genotyping TGF-β1 polymorphisms. DNA samples from 135 patients with Dupuytren's disease 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'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-β1. To our knowledge, this is the first report of a case-control association study in Dupuytren's disease using single nucleotide polymorphisms in TGF-β1.

Original languageEnglish
Pages (from-to)211-215
Number of pages5
JournalJournal of Bone and Joint Surgery - Series B
Volume84
Issue number2
Publication statusPublished - 2002

Fingerprint

Dupuytren Contracture
Genetic Predisposition to Disease
Single Nucleotide Polymorphism
Gene Frequency
Codon
Restriction Fragment Length Polymorphisms
Transforming Growth Factor beta
Wound Healing
Genes
Extracellular Matrix
Case-Control Studies
Fibrosis
Fibroblasts
Genotype
Cytokines
Polymerase Chain Reaction
DNA

ASJC Scopus subject areas

  • Surgery
  • Orthopedics and Sports Medicine

Cite this

Bayat, A., Watson, J. S., Stanley, J. K., Alansari, A., Shah, M., Ferguson, M. W. J., & Ollier, W. E. R. (2002). Genetic susceptibility in Dupuytren's disease. Journal of Bone and Joint Surgery - Series B, 84(2), 211-215.

Genetic susceptibility in Dupuytren's disease. / Bayat, A.; Watson, J. S.; Stanley, J. K.; Alansari, A.; Shah, M.; Ferguson, M. W.J.; Ollier, W. E.R.

In: Journal of Bone and Joint Surgery - Series B, Vol. 84, No. 2, 2002, p. 211-215.

Research output: Contribution to journalArticle

Bayat, A, Watson, JS, Stanley, JK, Alansari, A, Shah, M, Ferguson, MWJ & Ollier, WER 2002, 'Genetic susceptibility in Dupuytren's disease', Journal of Bone and Joint Surgery - Series B, vol. 84, no. 2, pp. 211-215.
Bayat A, Watson JS, Stanley JK, Alansari A, Shah M, Ferguson MWJ et al. Genetic susceptibility in Dupuytren's disease. Journal of Bone and Joint Surgery - Series B. 2002;84(2):211-215.
Bayat, A. ; Watson, J. S. ; Stanley, J. K. ; Alansari, A. ; Shah, M. ; Ferguson, M. W.J. ; Ollier, W. E.R. / Genetic susceptibility in Dupuytren's disease. In: Journal of Bone and Joint Surgery - Series B. 2002 ; Vol. 84, No. 2. pp. 211-215.
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