Genetic susceptibility to keloid disease: transforming growth factor beta receptor gene polymorphisms are not associated with keloid disease.
Exp Dermatol
; 13(2): 120-4, 2004 Feb.
Article
en En
| MEDLINE
| ID: mdl-15009106
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 beta (TGF-beta) has multiple cellular activities including cellular proliferation, differentiation and extracellular matrix production. TGF-beta family members such as TGF-beta(1) and TGF-beta(2) are known to be involved in KD formation. However, we previously demonstrated a lack of association between common TGF-beta(1) and TGF-beta(2) polymorphisms and KD. Other studies have implicated TGF-beta receptors in KD pathogenesis. TGF-beta receptors were therefore selected as candidate-susceptibility genes for this condition. Single-nucleotide polymorphisms (SNPs) in TGF-beta receptors I, II and III (TGF-betaRI, TGF-betaRII and TGF-betaRIII) 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-beta 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-beta receptor SNPs. Therefore, these TGF-beta receptor polymorphisms are unlikely to be associated with keloid scarring. It is possible that other SNPs in other TGF-beta family members are associated with KD. To our knowledge, this is the first report of a case-control association study with KD and TGF-beta receptor gene polymorphisms.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Polimorfismo Genético
/
Receptores de Factores de Crecimiento Transformadores beta
/
Predisposición Genética a la Enfermedad
/
Polimorfismo de Nucleótido Simple
/
Queloide
Tipo de estudio:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Humans
Idioma:
En
Revista:
Exp Dermatol
Asunto de la revista:
DERMATOLOGIA
Año:
2004
Tipo del documento:
Article
País de afiliación:
Reino Unido