title: Genetic susceptibility to keloid disease and transforming growth factor beta 2 polymorphisms.
abstract: 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.
authors.affiliation: Centre for Integrated Genomic Medical Research, School of Biological Sciences, University of Manchester, Manchester, UK.
authors.forename: A
authors.initials: A
authors.lastname: Bayat
authors.forename: O
authors.initials: O
authors.lastname: Bock
authors.forename: U
authors.initials: U
authors.lastname: Mrowietz
authors.forename: W E R
authors.initials: WE
authors.lastname: Ollier
authors.forename: M W J
authors.initials: MW
authors.lastname: Ferguson
mesh_terms: D017439:Cicatrix, Hypertrophic / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007627:Keloid / Q000235:genetics*; D011110:Polymorphism, Genetic; D016212:Transforming Growth Factor beta / Q000235:genetics*
chemical_list: D016212:Transforming Growth Factor beta