Replication of tcf4 through association and linkage studies in late-onset fuchs endothelial corneal dystrophy

PLoS ONE

Volumn 6, Issue 4, 2011, Pages

  Li, Yi Ju ^a   Minear, Mollie A ^a   Rimmler, Jacqueline ^a   Zhao, Bei ^a   Balajonda, Elmer ^a   Hauser, Michael A ^a   Allingham, R Rand ^a   Eghrari, Allen O ^b   Riazuddin, S Amer ^b   Katsanis, Nicholas ^c   Gottsch, John D ^b   Gregory, Simon G ^a   Klintworth, Gordon K ^a   Afshari, Natalie A ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c DUKE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN TCF4; T CELL FACTOR PROTEIN; UNCLASSIFIED DRUG; BASIC HELIX LOOP HELIX LEUCINE ZIPPER TRANSCRIPTION FACTOR; TCF4 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADULT; ALLELE; ARTICLE; CHROMOSOME 18; CONGENITAL CORNEA DYSTROPHY; CONTROLLED STUDY; DOMINANT GENE; FAMILY HISTORY; FEMALE; GENE FREQUENCY; GENE FUNCTION; GENE LOCATION; GENE REPLICATION; GENE TARGETING; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC MODEL; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HUMAN; MALE; MARKER GENE; ONSET AGE; PATHOGENESIS; RECESSIVE GENE; SCORING SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM; VALIDATION PROCESS; BIOLOGICAL MODEL; GENETIC MARKER; GENETICS; INTRON;

BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; CHROMOSOMES, HUMAN, PAIR 18; FUCHS' ENDOTHELIAL DYSTROPHY; GENETIC LINKAGE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INTRONS; MODELS, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; TRANSCRIPTION FACTORS;

EID: 79955454681     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0018044     Document Type: Article

References (51)

1. Fuchs E, (1910) Dystrophia epithelialis corneae. Albrecht von Graefes Arch Klin Exp Ophthalmol 76: 478-508.
2. Krachmer JH, Purcell JJ Jr, Young CW, Bucher KD, (1978) Corneal endothelial dystrophy. A study of 64 families. Arch Ophthalmol 96: 2036-2039.
3. 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.
4. Borboli S, Colby K, (2002) Mechanisms of disease: Fuchs' endothelial dystrophy. Ophthalmol Clin North Am 15: 17-25.
5. Klintworth GK, (2009) Corneal dystrophies. Orphanet J Rare Dis 4: 7.
6. Lorenzetti DW, Uotila MH, Parikh N, Kaufman HE, (1967) Central cornea guttata. Incidence in the general population. Am J Ophthalmol 64: 1155-1158.
7. Mannis MJ, Holland EJ, Beck RW, Belin MW, Goldberg MA, et al. (2006) Clinical profile and early surgical complications in the Cornea Donor Study. Cornea 25: 164-170.
8. Afshari NA, Pittard AB, Siddiqui A, Klintworth GK, (2006) Clinical study of Fuchs corneal endothelial dystrophy leading to penetrating keratoplasty: a 30-year experience. Arch Ophthalmol 124: 777-780.
9. Cross HE, Maumenee AE, Cantolino SJ, (1971) Inheritance of Fuchs' endothelial dystrophy. Arch Ophthalmol 85: 268-272.
10. Rosenblum P, Stark WJ, Maumenee IH, Hirst LW, Maumenee AE, (1980) Hereditary Fuchs' Dystrophy. Am J Ophthalmol 90: 455-462.
11. Magovern M, Beauchamp GR, McTigue JW, Fine BS, Baumiller RC, (1979) Inheritance of Fuchs' combined dystrophy. Ophthalmology 86: 1897-1923.
12. Chang S, Tuli, S, Azar, D, (1998) Corneal dystrophies. In: Traboulsi EI, editors. Genetic diseases of the eye: a Textbook and Atlas New York Oxford University Press.
13. Biswas S, Munier FL, Yardley J, Hart-Holden N, Perveen R, et al. (2001) Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet 10: 2415-2423.
14. Liskova P, Prescott Q, Bhattacharya SS, Tuft SJ, (2007) British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene. Br J Ophthalmol 91: 1717-1718.
15. Mok JW, Kim HS, Joo CK, (2009) Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. Eye (Lond) 23: 895-903.
16. 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.
17. 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.
18. Hemadevi B, Srinivasan M, Arunkumar J, Prajna NV, Sundaresan P, (2010) Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India. BMC Ophthalmol 10: 3.
19. Vithana EN, Morgan P, Sundaresan P, Ebenezer ND, Tan DT, et al. (2006) Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). Nat Genet 38: 755-757.
20. Vithana EN, Morgan PE, Ramprasad V, Tan DT, Yong VH, et al. (2008) SLC4A11 mutations in Fuchs endothelial corneal dystrophy. Hum Mol Genet 17: 656-666.
21. Riazuddin SA, Vithana EN, Seet LF, Liu Y, Al-Saif A, et al. (2010) Missense mutations in the sodium borate co-transporter SLC4A11 cause late onset Fuchs corneal dystrophy. Hum Mutat.
22. 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.
23. 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.
24. Mehta JS, Vithana EN, Tan DT, Yong VH, Yam GH, 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.
25. Sundin OH, Jun AS, Broman KW, Liu SH, Sheehan SE, et al. (2006) Linkage of late-onset Fuchs corneal dystrophy to a novel locus at 13pTel-13q12.13. Invest Ophthalmol Vis Sci 47: 140-145.
26. Sundin OH, Broman KW, Chang HH, Vito EC, 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.
27. Riazuddin SA, Eghrari AO, Al-Saif A, Davey L, Meadows DN, et al. (2009) Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2. Invest Ophthalmol Vis Sci 50: 5667-5671.
28. Afshari NA, Li YJ, Pericak-Vance MA, Gregory S, Klintworth GK, (2009) Genome-wide linkage scan in fuchs endothelial corneal dystrophy. Invest Ophthalmol Vis Sci 50: 1093-1097.
29. 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.
30. Liu Y, Liu W, Crooks K, Schmidt S, Allingham RR, et al. (2010) No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma. Am J Hum Genet 86: 498-499; author reply 500.
31. Epstein MP, Duren WL, Boehnke M, (2000) Improved inference of relationship for pairs of individuals. Am J Hum Genet 67: 1219-1231.
32. McPeek MS, Sun L, (2000) Statistical tests for detection of misspecified relationships by use of genome-screen data. Am J Hum Genet 66: 1076-1094.
33. O'Connell JR, Weeks DE, (1998) PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63: 259-266.
34. Zaykin D, Zhivotovsky L, Weir BS, (1995) Exact tests for association between alleles at arbitrary numbers of loci. Genetica 96: 169-178.
35. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575.
36. Cottingham RW Jr, Idury RM, Schaffer AA, (1993) Faster sequential genetic linkage computations. Am J Hum Genet 53: 252-263.
37. Ott J, (1986) Linkage probability and its approximate confidence interval under possible heterogeneity. Genet Epidemiol Suppl 1 pp. 251-257.
38. Abecasis GR, Cherny SS, Cookson WO, Cardon LR, (2002) Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30: 97-101.
39. Boyles AL, Scott WK, Martin ER, Schmidt S, Li YJ, et al. (2005) Linkage disequilibrium inflates type I error rates in multipoint linkage analysis when parental genotypes are missing. Hum Hered 59: 220-227.
40. 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.
41. Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, et al. (2002) The human genome browser at UCSC. Genome Res 12: 996-1006.
42. Wu C, Orozco C, Boyer J, Leglise M, Goodale J, et al. (2009) BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources. Genome Biol 10: R130.
43. Lattin JE, Schroder K, Su AI, Walker JR, Zhang J, et al. (2008) Expression analysis of G Protein-Coupled Receptors in mouse macrophages. Immunome Res 4: 5.
44. Visel A, Thaller C, Eichele G, (2004) GenePaint.org: an atlas of gene expression patterns in the mouse embryo. Nucleic Acids Res 32: D552-556.
45. BioGPS website. San Diego, CA Genomics Institute of the Novartis Research Foundation.
46. Mouse Genome Database (MGD) at the mouse Genome Informatics website. Bar Harbor, ME The Jackson Laboratory.
47. Bult CJ, Eppig JT, Kadin JA, Richardson JE, Blake JA, (2008) The Mouse Genome Database (MGD): mouse biology and model systems. Nucleic Acids Res 36: D724-728.
48. Mouse Genome Database (MGD) at the mouse Genome Informatics website. Bar Harbor, ME The Jackson Laboratory.
49. Rosenbloom KR, Dreszer TR, Pheasant M, Barber GP, Meyer LR, et al. (2010) ENCODE whole-genome data in the UCSC Genome Browser. Nucleic Acids Res 38: D620-625.
50. Phelan ML, Sif S, Narlikar GJ, Kingston RE, (1999) Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits. Mol Cell 3: 247-253.
51. Kwon CS, Wagner D, (2007) Unwinding chromatin for development and growth: a few genes at a time. Trends in Genetics 23: 403-412.