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Article

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

PloS one - 1 Jan 2017

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

Abstract excerpt

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...

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Identifiers

PMID: 28832669
DOI: 10.1371/journal.pone.0183719
PMCID: PMC5568371

Genes

TCF4

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