Fuchs Endothelial Corneal Dystrophy: Strong Association with rs613872 Not Paralleled by Changes in Corneal Endothelial TCF4 mRNA Level.
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 stro...
| Publicado en: | BioMed Research International Vol. 2015; pp. 1 - 7 |
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| Autores principales: | , , , , , , , |
| Formato: | pictorial research tables/charts Journal Article |
| Publicado: |
Wiley-Blackwell
9/16/2015
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=109990749&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 109990749 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 23146133 FT2T jtl: BioMed Research International issn: 23146133 maglogo: N pubinfo: dt: 9/16/2015 vid: 2015 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 109990749 109990749 NLM26451375 109990749 10.1155/2015/640234 NLM26451375 PMC4588027 109990749 ppf: 1 ppct: 6 formats: fmt: @attributes: type: P tig: atl: Fuchs Endothelial Corneal Dystrophy: Strong Association with rs613872 Not Paralleled by Changes in Corneal Endothelial TCF4 mRNA Level. aug: au: Ołdak, Monika Ruszkowska, Ewelina Udziela, Monika Oziębło, Dominika Bińczyk, Ewelina Ścieżyńska, Aneta Płoski, Rafał Szaflik, Jacek P. affil: Department of Genetics, World Hearing Center, Institute of Physiology and Pathology of Hearing, Warsaw, Poland sug: subj: Corneal Dystrophies, Hereditary Physiopathology Human Funding Source Corneal Dystrophies, Hereditary Familial and Genetic Genes Polymorphism, Genetic Genotype Alleles RNA Polymerase Chain Reaction Chi Square Test Odds Ratio Confidence Intervals Unpaired T-Tests Data Analysis Software Pearson's Correlation Coefficient Male Female Case Control Studies Goodness of Fit Chi Square Test Male Female ab: 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, χ (2) = 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. pubtype: Academic Journal doctype: pictorial research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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