Ontology highlight
ABSTRACT:
SUBMITTER: Oldak M
PROVIDER: S-EPMC4588027 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Ołdak Monika M Ruszkowska Ewelina E Udziela Monika M Oziębło Dominika D Bińczyk Ewelina E Ścieżyńska Aneta A Płoski Rafał R Szaflik Jacek P JP
BioMed research international 20150916
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. ...[more]