Journal article

TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases

Abraham Kuot, Alex W Hewitt, Grant R Snibson, Emmanuelle Souzeau, Richard Mills, Jamie E Craig, Kathryn P Burdon, Shiwani Sharma

PLOS ONE | PUBLIC LIBRARY SCIENCE | Published : 2017

Abstract

Fuchs' endothelial corneal dystrophy (FECD) is a progressive, vision impairing disease. Common single nucleotide polymorphisms (SNPs) and a trinucleotide repeat polymorphism, thymine-guanine-cytosine (TGC), in the TCF4 gene have been associated with the risk of FECD in some populations. We previously reported association of SNPs in TCF4 with FECD risk in the Australian population. The aim of this study was to determine whether TGC repeat polymorphism in TCF4 is associated with FECD in the Australian population. In 189 unrelated Australian cases with advanced late-onset FECD and 183 matched controls, the TGC repeat polymorphism located in intron 3 of TCF4 was genotyped using a short tandem re..

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Grants

Awarded by National Health and Medical Research Council (NHMRC), Australia


Funding Acknowledgements

This work was funded by grants from the National Health and Medical Research Council (NHMRC), Australia, grant #1023911, Ophthalmic Research Institute of Australia, and the Flinders Medical Centre Foundation, South Australia, Australia. JEC and KPB are recipients of NHMRC practitioner and research fellowships, respectively. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.