Differing Roles for TCF4 and COL8A2 in Central Corneal Thickness and Fuchs Endothelial Corneal Dystrophy

PLoS ONE

Volumn 7, Issue 10, 2012, Pages

  Igo, Robert P ^a   Kopplin, Laura J ^a,b   Joseph, Peronne ^a   Truitt, Barbara ^a   Fondran, Jeremy ^a   Bardenstein, David ^a   Aldave, Anthony J ^c   Croasdale, Christopher R ^d   Price, Marianne O ^e   Rosenwasser, Miriam ^f   Lass, Jonathan H ^a   Iyengar, Sudha K ^a  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c JULES STEIN EYE INSTITUTE   (United States)

^d David Duehr Dean Clinic   (United States)

^e PRICE VISION GROUP   (United States)

^f Central Pennsylvania Eye Institute   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR FKHR; TRANSCRIPTION FACTOR PITX2; TRANSCRIPTION FACTOR ZEB1;

AGED; ARTICLE; AVGR8 GENE; COL5A1 GENE; CONGENITAL CORNEA DYSTROPHY; CONTROLLED STUDY; CORNEA THICKNESS; DISEASE SEVERITY; FEMALE; FOXO1 GENE; GENE; GENE FUNCTION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MARKER GENE; MOLECULAR PATHOLOGY; PITX2 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SLC4A11 GENE; TRANSCRIPTION FACTOR 4 GENE; TYPE VIII COLLAGEN ALPHA 2 SUBUNIT GENE; ZEB1 GENE; ZNF469 GENE;

EID: 84867857008     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0046742     Document Type: Article

References (67)

1. Krachmer JH, Purcell JJ Jr, Young CW, Bucher KD, (1978) Corneal endothelial dystrophy. A study of 64 families. Arch Ophthalmol 96: 2036-2039.
2. Musch DC, Niziol LM, Stein JD, Kamyar RM, Sugar A, (2011) Prevalence of corneal dystrophies in the United States: estimates from claims data. Invest Ophthalmol Vis Sci 52: 6959-6963.
3. Eye Bank Association of America (2010) Statistical Report. Washington, DC: Eye Bank Association of America.
4. Gutti V, Bardenstein D, Iyengar SK, Lass JH (2010) Fuchs' endothelial corneal dystrophy. In: Levin L, Albert D, editors. Ocular Disease: Mechanisms and Management. New York: Elsevier, Inc.
5. Gottsch JD, Sundin OH, Rencs EV, Emmert DG, Stark WJ, et al. (2006) Analysis and documentation of progression of Fuchs corneal dystrophy with retroillumination photography. Cornea 25: 485-489.
6. Wilson SE, Bourne WM, O'Brien PC, Brubaker RF, (1988) Endothelial function and aqueous humor flow rate in patients with Fuchs' dystrophy. Am J Ophthalmol 106: 270-278.
7. Alsbirk PH, (1978) Corneal thickness. II. Environmental and genetic factors. Acta Ophthalm (Copenh) 56: 105-113.
8. Charlesworth J, Kramer P, Samples JR, Dyer T, Diego V, et al. (2010) The path to open angle glaucoma gene discovery: endophenotypic status of intraocular pressure, cup-to-disc ratio and central corneal thickness. Invest Ophthalmol Vis Sci 50: 4087-4090.
9. Landers JA, Hewitt AW, Dimasi DP, Charlesworth JC, Straga T, et al. (2009) Heritability of central corneal thickness in nuclear families. Invest Ophthalmol Vis Sci 50: 4087-4090.
10. Louttit MD, Kopplin LJ, Igo RP Jr, Fondran JR, Tagliaferri A, et al. (2012) A multi-center study to map genes for Fuchs' endothelial corneal dystrophy: baseline characteristics and heritability. Cornea 31: 26-35.
11. Toh T, Liew SHM, MacKinnon JR, Hewitt AW, Poulsen JL, et al. (2005) Central corneal thickness is highly heritable: the Twin Eye Studies. Invest Ophthalmol Vis Sci 46: 3718-3722.
12. Zheng Y, Ge J, Huang G, Zhang J, Liu B, et al. (2008) Heritability of central corneal thickness in Chinese: the Guangzhou Twin Eye Study. Invest Ophthalmol Vis Sci 49: 4303-4307.
13. Biswas S, Munier FL, Yardley J, Hart-Holden N, Perveen R, et al. (2001) Missense mutations in COL8A2, the gene encoding the α2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet 10: 2415-2423.
14. Gottsch JD, Sundin OH, Liu SH, Jun AS, Broman KW, et al. (2005) Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of Fuchs corneal dystrophy. Invest Ophthalmol Vis Sci 46: 1934-1939.
15. Baratz KH, Tosakulwong N, Ryu E, Brown WL, Branham K, et al. (2010) E2-2 protein and Fuchs's corneal dystrophy. N Engl J Med 363: 1016-1024.
16. Li Y-J, Minear MA, Rimmler J, Zhao B, Balajonda E, et al. (2011) Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy. PLoS ONE 6: e18044.
17. Riazuddin SA, McGlumphy EJ, Yeo WS, Wang J, Katsanis N, et al. (2011) Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus. Invest Ophthalmol Vis Sci 52: 2825-2829.
18. Thalamuthu A, Khor CC, Venkataraman D, Koh LW, Tan DTH, et al. (2011) Association of TCF4 gene polymorphisms with Fuchs corneal dystrophy in the Chinese. Invest Ophthalmol Vis Sci 52: 5573-5578.
19. Kuot A, Hewitt AW, Griggs K, Klebe S, Mills R, et al. (2012) Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFB1 proteins in the disease process. Eur J Hum Genet doi: 10.1038/ejhg.2011.248.
20. Kobayashi A, Fujiki K, Murakami A, Kato T, Chen LZ, et al. (2004) Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. Jpn J Ophthalmol 48: 195-198.
21. Afshari NA, Li Y-J, Pericak-Vance MA, Gregory S, Klintworth GK, (2009) Genome-wide linkage scan in Fuchs endothelial corneal dystrophy. Invest Ophthalmol Vis Sci 50: 1093-1097.
22. Gottsch JD, Zhang C, Sundin OH, Bell WR, Stark WJ, et al. (2005) Fuchs corneal dystrophy: aberrant collagen distribution in an L450W mutant of the COL8A2 gene. Invest Ophthalmol Vis Sci 46: 4504-4511.
23. Desronvil T, Logan-Wyatt D, Abdrabou W, Triana M, Jones R, et al. (2010) Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness. Mol Vision 16: 2185-2191.
24. Vithana EN, Aung T, Khor CC, Cornes BK, Tay W-T, et al. (2011) Collagen-related genes influence the glaucoma risk factor, central corneal thickness. Hum Mol Genet 20: 649-658.
25. Puk O, Dalke C, Calzada-Wack J, Ahmad N, Klaften M, et al. (2009) Reduced corneal thickness and enlarged anterior chamber in a novel ColVIIIa2G257D mutant mouse. Invest Ophthalmol Vis Sci 50: 5653-5661.
26. Hopfer U, Fukai N, Hopfer H, Wolf G, Joyce N, et al. (2005) Targeted disruption of Col8a1 and Col8a2 genes in mice leads to anterior segment abnormalities in the eye. FASEB J 19: 1232-1244.
27. Riazuddin SA, Vithana EN, Seet L-F, Liu Y, al-Saif A, et al. (2010) Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy. Hum Mutat 31: 1261-1268.
28. Ehlers N, Módis L, Møller-Pedersen T, (1998) A morphological and functional study of Congenital Hereditary Endothelial Dystrophy. Acta Ophthalmol Scand 76: 314-318.
29. Shimizu S, Krafchak C, Fuse N, Epstein MP, Schteingart MT, et al. (2004) A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10. Am J Med Genet A 130A: 372-377.
30. Kniestedt C, Taralczak M, Phil L, Thiel MA, Stuermer J, et al. (2006) A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfel-Rieger anomaly and coexisting Fuchs' endothelial dystrophy. Ophthalmology 113: 1791-1797.
31. Asai-Coakwell M, Backhouse C, Casey RJ, Gage PJ, Lehmann OJ, (2006) Reduced human and murine corneal thickness in an Axenfeld-Rieger syndrome subtype. Invest Ophthalmol Vis Sci 47: 4905-4909.
32. Lu Y, Dimasi DP, Hysi PG, Hewitt AW, Burdon KP, et al. (2010) Common genetic variants near the brittle cornea syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. PLoS Genet 6: e1000947.
33. Vitart V, Benčić G, Hayward C, Herman JŠ, Huffman J, et al. (2010) New loci associatied with central cornea thickness include COL5A1, AKAP13 and AVGR8. Hum Mol Genet 19: 4304-4311.
34. Aldave AJ, Yellore VS, Yu F, Bourla N, Sonmez B, et al. (2007) Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia. Am J Med Genet A 143A: 2549-2556.
35. Liskova P, Tuft SJ, Gwilliam R, Ebenezer ND, Jirsova K, et al. (2007) Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy. Hum Mutat 28: 638.
36. Mehta JS, Vithana EN, Tan DTH, Yong VHK, Yam GHF, et al. (2008) Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in late-onset Fuchs endothelial corneal dystrophy. Invest Ophthalmol Vis Sci 49: 184-188.
37. Vithana EN, Morgan P, Sundaresan P, Ebenezer ND, Tan DTH, et al. (2006) Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). Nat Genet 38: 755-757.
38. Vithana EN, Morgan PE, Ramprasad V, Tan DTH, Yong VHK, et al. (2008) SLC4A11 mutations in Fuchs endothelial dystrophy. Hum Mol Genet 17: 656-666.
39. Mok J-W, Kim H-S, Joo C-K, (2009) Q445V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. Eye 23: 895-903.
40. Hemadevi B, Srinivasan BS, Arunkumar J, Prajna N, Sundaresan P, (2010) Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India. BMC Ophthalmol 10: 3.
41. Krafchak CM, Pawar H, Moroi SE, Sugar A, Lichter PR, et al. (2005) Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. Am J Hum Genet 77: 694-708.
42. Vincent AL, Niederer RL, Richards A, Karolyi B, Patel DV, et al. (2009) Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population. Mol Vision 15: 2544-2553.
43. Liskova P, Filipec M, Merjava S, Jirsova K, Tuft SJ, (2010) Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene. Ophthalm Genet 31: 230-234.
44. Jiao X, Sultana A, Garg P, Ramamurthy B, Vemuganti GK, et al. (2007) Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11. J Med Genet 44: 64-48.
45. Ramprasad VL, Ebenezer ND, Aung T, Rajagopal R, Yong VHK, et al. (2007) Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Hum Mutat 28: 522-523.
46. Abu A, Frydman M, Marek D, Pras E, Nir U, et al. (2008) Deleterious mutations in the zinc-finger 469 gene cause brittle cornea syndrome. Am J Hum Genet 82: 1217-1222.
47. Burkitt Wright EMM, Spencer HL, Daly SB, Manson FDC, Zeef LAH, et al. (2011) Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. Am J Hum Genet 88: 767-777.
48. de Bakker PIW, Yelensky R, Pe'er I, Gabriel SB, Daly MJ, et al. (2005) Efficiency and power in genetic association studies. Nat Genet 37: 1217-1223.
49. S.A.G.E. (2011) Statistical Analysis for Genetic Epidemiology, version 6.1.
50. Chen M-H, Yang Q, (2010) GWAF: an R package for genome-wide association analyses with family data. Bioinformatics 26: 580-581.
51. Nyholt DR, (2004) A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am J Hum Genet 74: 765-769.
52. Li J, Ji L, (2005) Adjusting multiple testing in multilocus analyses using the eigenvalues of a correlation matrix. Heredity 95: 221-227.
53. Schaid DJ, (2004) Evaluating associations of haplotypes with traits. Genet Epidemiol 27: 348-364.
54. 1000 Genomes Project Consortium (2010) A map of human genome variation from population-scale sequencing. Nature 467: 1061-1073.
55. Aldave AJ, Rayner SA, Salem AK, Yoo GL, Kim BT, et al. (2006) No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy. Invest Ophthalmol Vis Sci 47: 3787-3790.
56. Riazuddin SA, Zaghloul NA, Al-Saif A, Davey L, Diplas BH, et al. (2010) Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. Am J Hum Genet 86: 45-53.
57. Riazuddin SA, Parker DS, McGlumphy EJ, Oh EC, Iliff BW, et al. (2012) Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy. Am J Hum Genet 90: 533-539.
58. Sundin OH, Broman KW, Chang HH, Vito ECL, Stark WJ, et al. (2006) A common locus for late-onset Fuchs corneal dystrophy maps to 18q21.2-q21.32. Invest Ophthalmol Vis Sci 47: 3919-3926.
59. Mackey DA, Warrington NM, Hewitt AW, Oates SK, Yazar S, et al. (2012) Role oft he TCF4 gene intronic variant in normal variation of corneal endothelium. Cornea 31: 162-166.
60. Lu R, Qu Y, Ge J, Zhang L, Su Z, et al. (2012) Transcription factor TCF4 maintains the properties of human corneal epithelial stem cells. Stem Cells 30: 753-761.
61. Sánchez-Tilló E, de Barrios O, Siles L, Cuatrecasas M, Castells A, et al. (2012) β-Catenin/TCF4 complex induces the epithelial-to-mesenchymal transition (EMT)-activator ZEB1 to regulate tumor invasiveness. Proc Natl Acad Sci USA 108: 19204-19209.
62. Jun AS, Meng H, Ramanan N, Matthaei M, Charkravarti S, et al. (2012) An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis. Hum Mol Genet 21: 384-393.
63. Bohnsack BL, Kasprick DS, Kish PE, Goldman D, Kahana A, (2012) A zebrafish model of Axenfeld-Rieger syndrome reveals that pitx2 regulation by retinoic acid is essential for ocular and craniofacial development. Invest Ophthalmol Vis Sci 53: 7-22.
64. Kopplin LJ, Przepyszny K, Schmotzer B, Rudo K, Babineau DC, et al. (2012) Relationship of Fuchs' endothelial corneal dystrophy severity to central corneal thickness. Arch Ophthalmol 130: 433-439.
65. Jostins L, Barrett JC, (2011) Genetic risk prediction in complex disease. Hum Mol Genet 20: R182-188.
66. Chen W, Stambolian D, Edwards AO, Branham KE, Othman M, et al. (2010) Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci USA 107: 7401-7406.
67. Desir J, Moya G, Reish O, Van Regemorter N, Deconinck H, et al. (2007) Borate transporter SLC4A11 mutations cause both Horboyan syndrome and non-syndromic corneal endothelial dystrophy. J Med Genet 44: 322-326.