Genetic susceptibility to keloid disease and transforming growth factor β2 polymorphisms

Keloid disease (KD) is a benign fibroproliferative scarring condition of unknown aetiopathogenesis. There is a familial predisposition to keloid scar-ring. The genes involved in the pathogenesis of abnormal dermal scarring have yet to be identified. Transforming growth factor beta (TGFbeta) is a family of multifunctional cytokines, which play a central role in wound healing and fibrosis. The TGFbeta(2) isoform is a member of this cytokine family and has previously been implicated in KD pathogenesis. We tested for an association between KD and two novel polymorphisms within the TGFbeta(2) gene: an insertion polymorphism within the 5'-untranslated region, 109 base pairs away from the initiation codon, and a single nucleotide polymorphism in exon one. We examined DNA samples from 101 patients with KD and 187 ethnically matched controls. No statistically significant differences in TGFbeta(2) genotype or allele frequency distribution were observed between the patients and the controls. We believe this to be the first report of a case-control association study in KD and TGFbeta(2) polymorphisms. (C) 2002 The British Association of Plastic Surgeons.