Graefes Arch Clin Exp Ophthalmol (2017) 255:1621–1631 DOI 10.1007/s00417-017-3697-7 GENETICS CTG18.1 repeat expansion may reduce TCF4 gene expression in corneal endothelial cells of German patients with Fuchs’ dystrophy 1 1 1 2 Sabine Foja & Mirjam Luther & Katrin Hoffmann & Andreas Rupprecht & Claudia Gruenauer-Kloevekorn Received: 6 December 2016 /Revised: 28 April 2017 /Accepted: 15 May 2017 /Published online: 12 June 2017 Springer-Verlag Berlin Heidelberg 2017 Abstract cells, expression of CDH2 (N-cadherin) was detected in Purpose It was the aim of this investigation to elucidate the FECD-affected endothelium and in our controls. functional effects of CTG18.1 trinucleotide repeat expansion Conclusions The CTG18.1 repeat expansion may reduce and the polymorphism rs613872 in the transcription factor 4 gene expression of TCF4 and ZEB1, suggesting that a mech- (TCF4) in corneas of patients affected by Fuchs’ endothelial anism triggering a loss of function may contribute to FECD. corneal dystrophy (FECD). The correlation of CTG18.1 repeat expansion from blood and Methods Sixty-one unrelated German patients with FECD the cornea may represent the first step toward investigating the and 113 unaffected controls were investigated and genotyped potential relevance of testing the blood of cornea donors to for the CTG18.1 locus by triplet primed
Graefe's Archive for Clinical and Experimental Ophthalmology – Springer Journals
Published: Jun 12, 2017
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