Genetic susceptibility to Dupuytrenʹs disease: transforming growth factor beta receptor (TGFβR) gene polymorphisms and Dupuytrenʹs disease

Dupuytrenʹs disease (DD) is a benign fibroproliferative disease of unknown cause. It is a familial condition that commonly affects Caucasians. Genetic studies have yet to identify the genes involved in DD. Transforming growth factor beta (TGFβ) family members are multifunctional; some play a central role in wound healing and fibrosis. Previous studies have implicated TGFβ cytokines and receptors in DD. In the light of this evidence, TGFβ receptors represent candidate susceptibility genes for this condition. In this study, we investigated the association of single nucleotide polymorphisms (SNPs) in TGFβ receptors one, two and three (TGFβRI, RII and RIII) with the risk of DD formation. A polymerase chain reaction-restriction fragment length polymorphism method was used for genotyping novel and known TGFβ receptor polymorphisms. DNA samples from 183 DD patients and 181 controls were examined. There was a statistically significant difference (p<0.05) in genotype frequency distributions between cases and controls for TGFβRI polymorphisms in the recessive model. However, there were no significant difference in genotype or allele frequency distributions between cases and controls for the TGFβRII and TGFβRIII SNPs.