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

Volumn 20, Issue 6, 2012, Pages 632-638

  Kuot, Abraham ^a   Hewitt, Alex W ^b   Griggs, Kim ^a   Klebe, Sonja ^a   Mills, Richard ^a   Jhanji, Vishal ^b,c   Craig, Jamie E ^a   Sharma, Shiwani ^a   Burdon, Kathryn P ^a  

^a FLINDERS UNIVERSITY   (Australia)

^b ROYAL VICTORIAN EYE AND EAR HOSPITAL   (Australia)

^c CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

Cornea; corneal dystrophy; eye; immunohistochemistry; protein expression

Indexed keywords

COLLAGEN TYPE 8; PROTEIN TYROSINE PHOSPHATASE; PROTEIN TYROSINE PHOSPHATASE RECEPTOR TYPE G; RECEPTOR SUBTYPE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR 4; TRANSFORMING GROWTH FACTOR BETA; UNCLASSIFIED DRUG;

AGED; ARTICLE; AUSTRALIA; CASE CONTROL STUDY; CAUCASIAN; CHINESE; CONGENITAL CORNEA DYSTROPHY; CONTROLLED STUDY; CORNEA ENDOTHELIUM; EYE; FEMALE; GENETIC POLYMORPHISM; GENOTYPE; HAPLOTYPE; HOMEOBOX; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED STATES; ZEB1 GENE;

AGED; ASIAN CONTINENTAL ANCESTRY GROUP; AUSTRALIA; BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; CASE-CONTROL STUDIES; CLUSTERIN; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FUCHS' ENDOTHELIAL DYSTROPHY; GENOTYPE; HAPLOTYPES; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; TRANSCRIPTION FACTORS; TRANSFORMING GROWTH FACTOR BETA1; UNITED STATES;

EID: 84863411278     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.248     Document Type: Article

References (46)

1. Kannabiran C: Genetics of corneal endothelial dystrophies. J Genet 2009; 88: 487-494.
2. Klintworth G: Corneal dystrophies. Orphanet J Rare Dis 2009; 4: 7.
3. Adamis AP, Filatov V, Tripathi BJ, Tripathi RC: Fuchs' endothelial dystrophy of the cornea. Surv Ophthalmol 1993; 38: 149-168. (Pubitemid 23297229)
4. Kenney MC, Labermeier U, Hinds D, Waring GO: Characterization of the Descemet's membrane/posterior collagenous layer isolated from Fuchs' endothelial dystrophy corneas. Exp Eye Res 1984; 39: 267-277. (Pubitemid 15158977)
5. Price MO, Gorovoy M, Benetz BA,et al.Descemet's stripping automated endothelial keratoplasty outcomes compared with penetrating keratoplasty from the cornea donor study. Ophthalmology 2010; 117: 438-444.
6. Riazuddin SA, Zaghloul NA, Al-Saif A,et al.Missense mutations in TCF8 cause lateonset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. Am J Human Genet 2010; 86: 45-53.
7. Santo RM, Yamaguchi T, Kanai A, Okisaka S, Nakajima A: Clinical and histopathologic features of corneal dystrophies in Japan. Ophthalmology 1995; 102: 557-567.
8. Vithana EN, Morgan PE, Ramprasad V,et al.SLC4A11 mutations in Fuchs endothelial corneal dystrophy. Hum Mol Genet 2008; 17: 656-666. (Pubitemid 351292255)
9. Williams KL, Bartlett MT, Kelly CM, Coster LDJ: The Australian Corneal Graft Registry: 2007. Report Adelaide: Flinders University 2007.
10. Biswas S, Munier FL, Yardley J,et al.Missense mutations in COL8A2, the gene encoding the a2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet 2001; 10: 2415-2423. (Pubitemid 33069547)
11. Mok JW, Kim HS, Joo CK: Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. Eye 2008; 23: 895-903.
12. Kabosova A, Azar DT, Bannikov GA,et al.Compositional differences between infant and adult human corneal basement membranes. Invest Ophthalmol Vis Sci 2007; 48: 4989-4999. (Pubitemid 351260908)
13. Weiss JS: Corneal dystrophies: molecular genetics to therapeutic intervention-Fifth ARVO/Pfizer Ophthalmics Research Institute Conference. Invest Ophthalmol Vis Sci 2010; 51: 5391-5402.
14. Mehta JS, Vithana EN, Tan DTH,et al.Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in late-onset Fuchs endothelial corneal dystrophy. Invest Ophthalmol Vis Sci 2008; 49: 184-188.
15. Hurt E, Saykally J, Anose B, Kalli K, Sanders M: Expression of the ZEB1 (dEF1) transcription factor in human: additional insights. Mol Cell Biochem 2008; 318: 89-99.
16. Liu Y, El-Naggar S, Darling DS, Higashi Y, Dean DC: Zeb1 links epithelial-mesenchymal transition and cellular senescence. Development 2008; 135: 579-588.
17. Vandewalle C, Van Roy F, Berx G: The role of the ZEB family of transcription factors in development and disease. Cell Mol Life Sci 2009; 66: 773-787.
18. Riazuddin SA, Vithana EN, Seet L-F,et al.Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophya. Hum Mutat 2010; 31: 1261-1268.
19. Baratz KH, Tosakulwong N, Ryu E,et al.E2-2 protein and Fuchs' corneal dystrophy. N Engl J Med 2010; 363: 1016-1024.
20. Riazuddin SA, McGlumphy EJ, Yeo WS, Wang J, Katsanis N, Gottsch JD: Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus. Invest Ophthalmol Vis Sci 2011; 52: 2825-2829.
21. Thalamuthu A, Khor CC, Venkataraman D,et al.Association of TCF4 gene polymorphisms with Fuchs corneal dystrophy in the chinese. Invest Ophthalmol Vis Sci 2011; 52: 5573-5578.
22. Jurkunas UV, Bitar M, Rawe I: Colocalization of increased transforming growth factor-{beta}-induced protein (TG. Invest Ophthalmol Vis Sci 2009; 50: 1129-1136.
23. Kim JH, Kim JH, Jun HO,et al.Protective effect of clusterin from oxidative stressinduced apoptosis in human retinal pigment epithelial cells. Invest Ophthalmol Vis Sci 2010; 51: 561-566.
24. Borderie VM, Baudrimont M, Vallee A, Ereau TL, Gray F, Laroche L: Corneal endothelial cell apoptosis in patients with Fuchs' dystrophy. Invest Ophthalmol Vis Sci 2000; 41: 2501-2505. (Pubitemid 30624376)
25. Jurkunas UV, Bitar MS, Funaki T, Azizi B: Evidence of oxidative stress in the pathogenesis of Fuchs endothelial corneal dystrophy. Am J Pathol 2010; 177: 2278-2289.
26. Fuxe J, Vincent T, Garcia de Herreros A: Transcriptional crosstalk between TGF-beta and stem cell pathways in tumor cell invasion: role of EMT promoting Smad complexes. Cell Cycle 2010; 9: 2363-2374.
27. Wright AFMCP, Dhillon BBB: Major progress in Fuchs's corneal dystrophy. N Engl J Med 2010; 363: 1072-1075.
28. Krachmer JH, Purcell Jr JJ, Young CW, Bucher KD: Corneal endothelial dystrophy: a study of 64 families. Arch Ophthalmol 1978; 96: 2036-2039. (Pubitemid 8404086)
29. Barrett JC, Fry B, Maller J, Daly MJ: Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21: 263-265. (Pubitemid 40202029)
30. Purcell S, Neale B, Todd-Brown K,et al.PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81: 559-575. (Pubitemid 47330214)
31. Purcell S, Cherny SS, Sham PC: Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 2003; 19: 149-150. (Pubitemid 36150192)
32. Sharma S, Chataway T, Burdon KP,et al.Identification of LOXL1 protein and apolipoprotein E as components of surgically isolated pseudoexfoliation material by direct mass spectrometry. Exp Eye Res 2009; 89: 479-485.
33. Sobrado VR, Moreno-Bueno G, Cubillo E,et al.The class I bHLH factors E2-2A and E2-2B regulate EMT. J Cell Sci 2009; 122: 1014-1024.
34. Eger A, Aigner K, Sonderegger S,et al.DeltaEF1 is a transcriptional repressor of E-cadherin and regulates epithelial plasticity in breast cancer cells. Oncogene 2005; 24: 2375-2385. (Pubitemid 40546696)
35. Sundin OH, Broman KW, Chang HH, Vito ECL, Stark WJ, Gottsch JD: A common locus for late-onset Fuchs corneal dystrophy maps to 18q21.2-q21.32. Invest Ophthalmol Vis Sci 2006; 47: 3919-3926. (Pubitemid 46044307)
36. Johnson DH, Bourne WM, Campbell RJ: The ultrastructure of Descemet's membrane: I. Changes with age in normal corneas. Arch Ophthalmol 1982; 100: 1942-1947. (Pubitemid 13240996)
37. Waring GO III: Posterior collagenous layer of the cornea. Ultrastructural classification of abnormal collagenous tissue posterior to Descemet's membrane in 30 cases. Arch Ophthalmol 1982; 100: 122-134.
38. Burdon KP, Sharma S, Hewitt AW,et al.Genetic analysis of the clusterin gene in pseudoexfoliation syndrome. Mol Vis 2008; 14: 1727-1736.
39. Krumbiegel M, Pasutto F, Mardin CY,et al.Exploring functional candidate genes for genetic association in German patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. Invest Ophthalmol Vis Sci 2009; 50: 2796-2801.
40. Wilson SE, Bourne WM: Fuchs' dystrophy. Cornea 1988; 7: 2-18.
41. Yellore VS, Rayner SA, Aldave AJ: TGFB1-induced extracellular expression of TGFBIp and inhibition of TGFBIp expression by RNA interference in a human corneal epithelial cell line. Invest Ophthalmol Vis Sci 2011; 52: 757-763.
42. Hecker LA, McLaren JW, Bachman LA, Patel SV: Anterior keratocyte depletion in Fuchs endothelial dystrophy. Arch Ophthalmol 2011; 129: 555-561.
43. Billings PC, Whitbeck JC, Adams CS,et al.The transforming growth factor-Î2-inducible matrix protein Î2ig-h3 interacts with fibronectin. J Biol Chem 2002; 277: 28003-28009. (Pubitemid 34966750)
44. Takeyama Y, Sato M, Horio M,et al.Knockdown of ZEB1, a master epithelial-tomesenchymal transition (EMT) gene, suppresses anchorage-independent cell growth of lung cancer cells. Cancer Lett 2010; 296: 216-224.
45. Aldave AJ, Principe AH, Lin DY, Yellore VS, Small KW: Lattice dystrophy-like localized amyloidosis of the cornea secondary to trichiasis. Cornea 2005; 24: 112-115. (Pubitemid 40053506)
46. Suesskind D, Auw-Haedrich C, Schorderet DF, Munier FL, Loeffler KU: Keratoepithelin in secondary corneal amyloidosis. Graefes Arch Clin Exp Ophthalmol 2006; 244: 725-725-731.