Plast Reconstr Surg. 2003 Jun;111(7):2133-9.

Genetic susceptibility to dupuytren disease: association of Zf9 transcription factor gene.

Bayat A, Watson JS, Stanley JK, Ferguson MW, Ollier WE.

Center for Integrated Genomic Research and Division of Cell Immunology and Development, School of Biological Sciences, University of Manchester, United Kingdom. ardeshir.bayat@man.ac.uk

Transforming growth factor beta 1 (TGF-beta 1) is a key fibrogenic cytokine that has been shown to stimulate fibroblast proliferation and extracellular matrix deposition and has been implicated in the pathogenesis of Dupuytren disease. Zf9 is a transcription factor that increases TGF-beta 1 expression in tissue. The authors previously demonstrated a lack of association between common TGF-beta 1 and TGF-beta 2 polymorphisms and Dupuytren disease. Therefore, Zf9 transcription factor represents an additional candidate susceptibility gene for investigating hereditary predisposition to Dupuytren disease. Dupuytren disease, or Dupuytren contracture, is a progressive and recurrent fibroproliferative disease of unknown etiology that affects the human hands. It is often a familial disorder affecting Northern European Caucasians. Genes implicated in the development of Dupuytren disease have not yet been found. Using a polymerase chain reaction-restriction fragment polymorphism method, the authors genotyped a novel single nucleotide polymorphism in the 3' untranslated region of the Zf9 gene. A case-control association study of 138 patients with Dupuytren disease versus 255 controls demonstrated a statistically significant difference in the genotype and allele frequencies between patients and controls for Zf9 gene polymorphism. Presence of the G allele versus the A allele is associated with an increased risk of developing Dupuytren disease (odds ratio, 1.9; 95 percent confidence interval, 1.2 to 2.9). The authors believe this to be the first report of a positive genetic association study in Dupuytren disease using single nucleotide polymorphisms.

Publication Types: Research Support, Non-U.S. Gov't

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