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

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    Author
    Kuot, A; Hewitt, AW; Snibson, GR; Souzeau, E; Mills, R; Craig, JE; Burdon, KP; Sharma, S
    Date
    2017-08-23
    Source Title
    PLoS One
    Publisher
    PUBLIC LIBRARY SCIENCE
    University of Melbourne Author/s
    Snibson, Grant; Craig, Jamie
    Affiliation
    Ophthalmology (Eye & Ear Hospital)
    Metadata
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    Document Type
    Journal Article
    Citations
    Kuot, A., Hewitt, A. W., Snibson, G. R., Souzeau, E., Mills, R., Craig, J. E., Burdon, K. P. & Sharma, S. (2017). TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases. PLOS ONE, 12 (8), https://doi.org/10.1371/journal.pone.0183719.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/256971
    DOI
    10.1371/journal.pone.0183719
    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 repeat (STR) assay. The repeat length was verified by direct sequencing in selected homozygous carriers. We found significant association between the expanded TGC repeat (≥ 40 repeats) in TCF4 and advanced FECD (P = 2.58 × 10-22; OR = 15.66 (95% CI: 7.79-31.49)). Genotypic analysis showed that 51% of cases (97) compared to 5% of controls (9) were heterozygous or homozygous for the expanded repeat allele. Furthermore, the repeat expansion showed stronger association than the most significantly associated SNP, rs613872, in TCF4, with the disease in the Australian cohort. This and haplotype analysis of both the polymorphisms suggest that considering both the polymorphisms together rather than either of the two alone would better predict susceptibility to FECD in the Australian population. This is the first study to report association of the TGC trinucleotide repeat expansion in TCF4 with advanced FECD in the Australian population.

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