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H.M. Serra, T.A. Cafaro, S.A. Pesoa, C.M. Vullo, E.G. Knoll, E.A. Urrets–Zavalia, J.A. Urrets–Zavalia; Transforming Growth Factor ß1 Polymorphisms in Patients with Climatic Droplet Keratopathy . Invest. Ophthalmol. Vis. Sci. 2006;47(13):4959.
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© ARVO (1962-2015); The Authors (2016-present)
Allelic variants of certain cytokines genes have been associated with low, intermediate, and high production phenotypes. The cytokines TGF–ß1, TNF–α, and IL–10 have been implicated in the pathogenesis of different diseases. The aim of this study was to assess if functionally relevant cytokine polymorphisms influence the development of climatic droplet keratopathy (CDK), a degenerative corneal disease, affecting individuals in the Argentine Patagonia (19 patients with CDK and 13 normal individuals).
Genomic DNA was obtained by standard methods from whole blood. ARMS–PCR was used with specific primers for the following polymorphisms: TGF–ß1 [codon 10 (C→T), codon 25 (G→C)], IL–10 [–1082 (G→A), –819 (C→T)] and TNF–α [–308 (G→A)]. The amplified products were monitored by electrophoresis on agarose gel with ethidium bromide.
In regards to TGF–ß1 (codon 10) polymorphism we found a significant difference in allele frequencies (AF) between CDK patients and normal individuals (p=0.02). Genomic frequencies analysis shown an increase of the high producer phenotype (T/T) in CDK patients (p=0.05). No significantly different distributions of AF were detected at any other polymorphic positions of the other cytokines studied.
Since TGF–ß1 is involved in repair responses that lead to matrix deposition and tissue remodeling the high producer phenotype observed in CDK patients could contribute to the alteration found in the superficial corneal stroma.
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