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BioMed Research International
Volume 2015 (2015), Article ID 640234, 6 pages
Research Article

Fuchs Endothelial Corneal Dystrophy: Strong Association with rs613872 Not Paralleled by Changes in Corneal Endothelial TCF4 mRNA Level

1Department of Genetics, World Hearing Center, Institute of Physiology and Pathology of Hearing, Warsaw, Poland
2Department of Histology and Embryology, Medical University of Warsaw, Warsaw, Poland
3Postgraduate School of Molecular Medicine, Medical University of Warsaw, Warsaw, Poland
4Department of Ophthalmology, Medical University of Warsaw, Warsaw, Poland
5Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland

Received 27 March 2015; Revised 5 June 2015; Accepted 8 June 2015

Academic Editor: Alessandro Lambiase

Copyright © 2015 Monika Ołdak et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Fuchs endothelial corneal dystrophy (FECD) is a common corneal endotheliopathy with a complex and heterogeneous genetic background. Different variants in the TCF4 gene have been strongly associated with the development of FECD. TCF4 encodes the E2-2 transcription factor but the link between the strong susceptibility locus and disease mechanism remains elusive. Here, we confirm a strong positive association between TCF4 single nucleotide polymorphism rs613872 and FECD in Polish patients (OR = 12.95, 95% CI: 8.63–19.42, , ). We show that TCF4 expression at the mRNA level in corneal endothelium () does not differ significantly between individuals with a particular TCF4 genotype. It is also not altered in FECD patients as compared to control samples. The data suggest that changes in the transcript level containing constitutive TCF4 exon encoding the amino-terminal part of the protein seem not to contribute to disease pathogenesis. However, considering the strong association of TCF4 allelic variants with FECD, genotyping of TCF4 risk alleles may be important in the clinical practice.