Genetic susceptibility to keloid disease and transforming growth factor beta 2 polymorphisms

A Bayat, O Bock, U Mrowietz, WER Ollier, Mark Ferguson

    Research output: Contribution to journalArticlepeer-review


    Keloid disease (KD) is a benign fibroproliferative scarring condition of unknown aetiopathogenesis. There is a familial predisposition to keloid scarring. The genes involved in the pathogenesis of abnormal dermal scarring have yet to be identified. Transforming growth factor beta (TGF beta) is a family of multifunctional cytokines, which play a central role in wound healing and fibrosis. The TGF beta 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 TGF beta 2 gene: an insertion polymorphism within the 59-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 TGF beta 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 TGF beta 2 polymorphisms.
    Original languageEnglish
    Pages (from-to)283-286
    JournalBr J Plast Surg
    Issue number4
    Publication statusPublished - 2002


    • Cicatrix, Hypertrophic/*genetics
    • Genetic Predisposition to Disease
    • Genotype
    • Human
    • Keloid/*genetics
    • *Polymorphism (Genetics)
    • Support, Non-U.S. Gov't
    • Transforming Growth Factor beta/*genetics


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