Genetic susceptibility to keloid disease and transforming growth factor beta 2 polymorphisms.
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.
Bayat
A
A
Centre for Integrated Genomic Medical Research, School of Biological Sciences, University of Manchester, Manchester, UK.
Bock
O
O
Mrowietz
U
U
Ollier
W E R
WE
Ferguson
M W J
MW
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*
D016212:Transforming Growth Factor beta