Genetic susceptibility to keloid disease: Transforming growth factor β receptor gene polymorphisms are not associated with keloid disease

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Abstract
Abstract:  Keloid disease (KD) is an abnormal form of scarring with a familial predisposition. Genetic studies have yet to identify the genes involved in KD. Transforming growth factor β (TGF‐β) has multiple cellular activities including cellular proliferation, differentiation and extracellular matrix production. TGF‐β family members such as TGF‐β1 and TGF‐β2 are known to be involved in KD formation. However, we previously demonstrated a lack of association between common TGF‐β1 and TGF‐β2 polymorphisms and KD. Other studies have implicated TGF‐β receptors in KD pathogenesis. TGF‐β receptors were therefore selected as candidate‐susceptibility genes for this condition. Single‐nucleotide polymorphisms (SNPs) in TGF‐β receptors I, II and III (TGF‐βRI, TGF‐βRII and TGF‐βRIII) were identified and investigated for association with the risk of developing KD. A polymerase chain reaction‐restriction fragment length polymorphism method was used for genotyping novel and known TGF‐β receptor polymorphisms. DNA samples from 92 KD cases and 181 controls were examined. There were no statistically significant differences in genotype or allele frequency distributions between cases and controls for the TGF‐β receptor SNPs. Therefore, these TGF‐β receptor polymorphisms are unlikely to be associated with keloid scarring. It is possible that other SNPs in other TGF‐β family members are associated with KD. To our knowledge, this is the first report of a case‐control association study with KD and TGF‐β receptor gene polymorphisms.