Fuchs Endothelial Corneal Dystrophy: Strong Association with rs613872 Not Paralleled by Changes in Corneal Endothelial TCF4 mRNA Level
Joint Authors
Szaflik, Jacek P.
Płoski, Rafał
Binczyk, Ewelina
Ołdak, Monika
Ruszkowska, Ewelina
Udziela, Monika
Oziębło, Dominika
Ścieżyńska, Aneta
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-09-16
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
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, χ2=189.5, p<0.0001).
We show that TCF4 expression at the mRNA level in corneal endothelium (n=63) 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.
American Psychological Association (APA)
Ołdak, Monika& Ruszkowska, Ewelina& Binczyk, Ewelina& Ścieżyńska, Aneta& Płoski, Rafał& Szaflik, Jacek P.…[et al.]. 2015. Fuchs Endothelial Corneal Dystrophy: Strong Association with rs613872 Not Paralleled by Changes in Corneal Endothelial TCF4 mRNA Level. BioMed Research International،Vol. 2015, no. 2015, pp.1-6.
https://search.emarefa.net/detail/BIM-1056242
Modern Language Association (MLA)
Binczyk, Ewelina…[et al.]. Fuchs Endothelial Corneal Dystrophy: Strong Association with rs613872 Not Paralleled by Changes in Corneal Endothelial TCF4 mRNA Level. BioMed Research International No. 2015 (2015), pp.1-6.
https://search.emarefa.net/detail/BIM-1056242
American Medical Association (AMA)
Ołdak, Monika& Ruszkowska, Ewelina& Binczyk, Ewelina& Ścieżyńska, Aneta& Płoski, Rafał& Szaflik, Jacek P.…[et al.]. Fuchs Endothelial Corneal Dystrophy: Strong Association with rs613872 Not Paralleled by Changes in Corneal Endothelial TCF4 mRNA Level. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-6.
https://search.emarefa.net/detail/BIM-1056242
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1056242