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BioMed Research International
Volume 2015 (2015), Article ID 640234, 6 pages
http://dx.doi.org/10.1155/2015/640234
Research Article

Fuchs Endothelial Corneal Dystrophy: Strong Association with rs613872 Not Paralleled by Changes in Corneal Endothelial TCF4 mRNA Level

1Department of Genetics, World Hearing Center, Institute of Physiology and Pathology of Hearing, Warsaw, Poland
2Department of Histology and Embryology, Medical University of Warsaw, Warsaw, Poland
3Postgraduate School of Molecular Medicine, Medical University of Warsaw, Warsaw, Poland
4Department of Ophthalmology, Medical University of Warsaw, Warsaw, Poland
5Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland

Received 27 March 2015; Revised 5 June 2015; Accepted 8 June 2015

Academic Editor: Alessandro Lambiase

Copyright © 2015 Monika Ołdak et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. J. Zhang and D. V. Patel, “The pathophysiology of Fuchs' endothelial dystrophy—a review of molecular and cellular insights,” Experimental Eye Research, vol. 130, pp. 97–105, 2015. View at Publisher · View at Google Scholar
  2. S. G. Levy, J. Moss, H. Sawada, P. J. C. Dopping-Hepenstal, and A. C. E. McCartney, “The composition of wide-spaced collagen in normal and diseased Descemet's membrane,” Current Eye Research, vol. 15, no. 1, pp. 45–52, 1996. View at Publisher · View at Google Scholar · View at Scopus
  3. M. A. Nanavaty, X. Wang, and A. J. Shortt, “Endothelial keratoplasty versus penetrating keratoplasty for Fuchs endothelial dystrophy,” Cochrane Database of Systematic Reviews, no. 7, Article ID CD008420, 2011. View at Google Scholar · View at Scopus
  4. G. K. Klintworth, “Corneal dystrophies,” Orphanet Journal of Rare Diseases, vol. 4, no. 1, article 7, 2009. View at Publisher · View at Google Scholar · View at Scopus
  5. A. Higa, H. Sakai, S. Sawaguchi et al., “Prevalence of and risk factors for cornea guttata in a population-based study in a southwestern island of Japan: the Kumejima study,” Archives of Ophthalmology, vol. 129, no. 3, pp. 332–336, 2011. View at Publisher · View at Google Scholar · View at Scopus
  6. K. H. Baratz, N. Tosakulwong, E. Ryu et al., “E2-2 protein and Fuchs's corneal dystrophy,” The New England Journal of Medicine, vol. 363, no. 11, pp. 1016–1024, 2010. View at Publisher · View at Google Scholar · View at Scopus
  7. B. W. Iliff, S. A. Riazuddin, and J. D. Gottsch, “The genetics of Fuchs' corneal dystrophy,” Expert Review of Ophthalmology, vol. 7, no. 4, pp. 363–375, 2012. View at Publisher · View at Google Scholar · View at Scopus
  8. S. A. Riazuddin, S. Vasanth, N. Katsanis, and J. D. Gottsch, “Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4,” The American Journal of Human Genetics, vol. 93, no. 4, pp. 758–764, 2013. View at Publisher · View at Google Scholar · View at Scopus
  9. E. D. Wieben, R. A. Aleff, N. Tosakulwong et al., “A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy,” PLoS ONE, vol. 7, no. 11, Article ID e49083, 2012. View at Publisher · View at Google Scholar · View at Scopus
  10. J. P. Szaflik, M. Ołdak, R. B. Maksym et al., “Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation,” Molecular Vision, vol. 14, pp. 1713–1718, 2008. View at Google Scholar · View at Scopus
  11. M. W. Pfaffl, “A new mathematical model for relative quantification in real-time RT-PCR,” Nucleic Acids Research, vol. 29, no. 9, article e45, 2001. View at Publisher · View at Google Scholar · View at Scopus
  12. S. A. Riazuddin, E. J. McGlumphy, W. S. Yeo, J. Wang, N. Katsanis, and J. D. Gottsch, “Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus,” Investigative Ophthalmology and Visual Science, vol. 52, no. 5, pp. 2825–2829, 2011. View at Publisher · View at Google Scholar · View at Scopus
  13. J. F. Stamler, B. R. Roos, M. D. Wagoner et al., “Confirmation of the association between the TCF4 risk allele and Fuchs endothelial corneal dystrophy in patients from the Midwestern United States,” Ophthalmic Genetics, vol. 34, no. 1-2, pp. 32–34, 2013. View at Publisher · View at Google Scholar · View at Scopus
  14. Y.-J. Li, M. A. Minear, J. Rimmler et al., “Replication of tcf4 through association and linkage studies in late-onset fuchs endothelial corneal dystrophy,” PLoS ONE, vol. 6, no. 4, Article ID e18044, 2011. View at Publisher · View at Google Scholar · View at Scopus
  15. R. P. Igo Jr., L. J. Kopplin, P. Joseph et al., “Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy,” PLoS ONE, vol. 7, no. 10, Article ID e46742, 2012. View at Publisher · View at Google Scholar · View at Scopus
  16. A. Kuot, A. W. Hewitt, K. Griggs et al., “Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process,” European Journal of Human Genetics, vol. 20, no. 6, pp. 632–638, 2012. View at Publisher · View at Google Scholar · View at Scopus
  17. G. G. Nanda, B. Padhy, S. Samal, S. Das, and D. P. Alone, “Genetic association of TCF4 intronic polymorphisms, CTG18.1 and rs17089887, with Fuchs' endothelial corneal dystrophy in an Indian population,” Investigative Ophthalmology & Visual Science, vol. 55, no. 11, pp. 7674–7680, 2014. View at Google Scholar
  18. K. J. Wang, V. Jhanji, J. Chen et al., “Association of transcription factor 4 (TCF4) and protein tyrosine phosphatase, receptor type G (PTPRG) with corneal dystrophies in southern Chinese,” Ophthalmic Genetics, vol. 35, no. 3, pp. 138–141, 2014. View at Publisher · View at Google Scholar
  19. A. Thalamuthu, C. C. Khor, D. Venkataraman et al., “Association of TCF4 gene polymorphisms with Fuchs' corneal dystrophy in the Chinese,” Investigative Ophthalmology & Visual Science, vol. 52, no. 8, pp. 5573–5578, 2011. View at Publisher · View at Google Scholar · View at Scopus
  20. C. Xing, X. Gong, I. Hussain et al., “Transethnic replication of association of CTG18.1 repeat expansion of TCF4 gene with Fuchs' corneal dystrophy in Chinese implies common causal variant,” Investigative Ophthalmology & Visual Science, vol. 55, no. 11, pp. 7073–7078, 2014. View at Google Scholar
  21. V. V. Mootha, X. Gong, H.-C. Ku, and C. Xing, “Association and familial segregation of CTG18.1 trinucleotide repeat expansion of TCF4 gene in Fuchs' endothelial corneal dystrophy,” Investigative Ophthalmology and Visual Science, vol. 55, no. 1, pp. 33–42, 2014. View at Publisher · View at Google Scholar · View at Scopus
  22. V. V. Mootha, I. Hussain, K. Cunnusamy et al., “TCF4 triplet repeat expansion and nuclear RNA foci in Fuchs' endothelial corneal dystrophy,” Investigative Opthalmology & Visual Science, vol. 56, no. 3, pp. 2003–2011, 2015. View at Publisher · View at Google Scholar
  23. J. Du, R. A. Aleff, E. Soragni et al., “RNA toxicity and missplicing in the common eye disease fuchs endothelial corneal dystrophy,” The Journal of Biological Chemistry, vol. 290, no. 10, pp. 5979–5990, 2015. View at Publisher · View at Google Scholar