Role of the TCF4 gene intronic variant in normal variation of corneal endothelium

Cornea

Volumn 31, Issue 2, 2012, Pages 162-166

  MacKey, David A ^a   Warrington, Nicole M ^b   Hewitt, Alex W ^c   Oates, Sandra K ^a   Yazar, Seyhan ^a   Soloshenko, Alla ^a   Crawford, Geoffrey J ^a   Mountain, Jenny A ^d   Pennell, Craig E ^b  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

birth cohort study; Fuchs endothelial dystrophy; genetics of corneal endothelium; genome wide association study

Indexed keywords

ACTIVATING TRANSCRIPTION FACTOR 4;

ADULT; ARTICLE; CELL DENSITY; CELL STRUCTURE; CLINICAL FEATURE; CONGENITAL CORNEA DYSTROPHY; CORNEA ENDOTHELIUM; EPITHELIUM CELL; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HIGH RISK POPULATION; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PROSPECTIVE STUDY; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; SPECULAR MICROSCOPY;

ALLELES; BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; COHORT STUDIES; EPITHELIUM, CORNEAL; FEMALE; FUCHS' ENDOTHELIAL DYSTROPHY; GENETIC VARIATION; GENOTYPE; HUMANS; INTRONS; MALE; PROSPECTIVE STUDIES; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84855845131     PISSN: 02773740     EISSN: 15364798     Source Type: Journal    
DOI: 10.1097/ICO.0b013e318226155f     Document Type: Article

References (24)

1. Lorenzetti DW, Uotila MH, Parikh N, et al. Central cornea guttata. Incidence in the general population. Am J Ophthalmol. 1967;64: 1155-1158.
2. Fuchs E. On keratitis, being the Bowman lecture. Trans Ophthalmol Soc U K. 1902;22:15-34.
3. Weisenthal R, Streeten B. Posterior membrane dystrophies. Cornea. 1997; 2:1063-1090.
4. Bergmanson JP, Sheldon TM, Goosey JD. Fuchs' endothelial dystrophy: a fresh look at an aging disease. Ophthalmic Physiol Opt. 1999;19:210-222. (Pubitemid 29134655)
5. Miller CA, Krachmer JH. Endothelial dystrophies. In: Kaufman HE, Barron B, McDonald M, et al, eds. The Corneas. New York, NY: Churchill-Livingstone; 1988.
6. Burns R, Bourne W, Brubaker R. Endothelial function in patients with cornea guttata. Invest Ophthalmol Vis Sci. 1981;20:77-85. (Pubitemid 11062154)
7. Chiou AG, Kaufman SC, Beuerman RW, et al. Confocal microscopy in cornea guttata and Fuchs' endothelial dystrophy. Br J Ophthalmol. 1999; 83:185-189. (Pubitemid 29106087)
8. Krachmer JH, Purcell JJ Jr, Young CW, et al. Corneal endothelial dystrophy. A study of 64 families. Arch Ophthalmol. 1978;96:2036-2039. (Pubitemid 8404086)
9. Schnitzer JI, Krachmer JH. A specular microscopic study of families with endothelial dystrophy. Br J Ophthalmol. 1981;65:396-400. (Pubitemid 11046369)
10. Fuchs E. Dystrophia epithelialis corneae. Graefes Arch Clin Exp Ophthalmol. 1910;76:478-508.
11. Jun AS. One hundred years of Fuchs' dystrophy. Ophthalmology. 2010; 117:859-860.e814.
12. Biswas S, Munier FL, Yardley J, et al. Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet. 2001;10:2415-2423. (Pubitemid 33069547)
13. Hejtmancik JF, Jiao X, Li A, et al. Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. Am J Hum Genet. 2008; 82:174-180. (Pubitemid 351726076)
14. Lee MM, Ritter R, Hirose T, et al. Snowflake vitreoretinal degeneration: follow-up of the original family. Ophthalmology. 2003;110:2418-2426. (Pubitemid 37485175)
15. Vithana EN, Morgan PE, Ramprasad V, et al. SLC4A11 mutations in Fuchs endothelial corneal dystrophy. Hum Mol Genet. 2008;17:656-666. (Pubitemid 351292255)
16. Riazuddin SA, Zaghloul NA, Al-Saif A, et al. Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. Am J Hum Genet. 2010;86:45-53.
17. Riazuddin SA, Eghrari AO, Al-Saif A, et al. Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2. Invest Ophthalmol Vis Sci. 2009;50:5667-5671.
18. Sundin OH, Jun AS, Broman KW, et al. Linkage of late-onset Fuchs corneal dystrophy to a novel locus at 13pTel-13q12.13. Invest Ophthalmol Vis Sci. 2006;47:140-145. (Pubitemid 46780806)
19. Sundin OH, Broman KW, Chang HH, et al. 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)
20. Baratz KH, Tosakulwong N, Ryu E, et al. E2-2 protein and Fuchs's corneal dystrophy. N Engl J Med. 2010;363:1016-1024.
21. Riazuddin SA, Yeo WS, Wang J, et al. 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.
22. Macdonald W, Newnham J, Gurrin L. Effect of frequent prenatal ultrasound on birthweight: follow up at 1 year of age. Western Australian Pregnancy Cohort (Raine) Working Group. Lancet. 1996;348:482. (Pubitemid 26267900)
23. R Development Core T. R: a language and environment for statistical computing. Available at: http://www.R-project.org. Accessed August 10, 2011.
24. Gauderman WJ, Morrison JM. QUANTO 1.1: a computer program for power and sample size calculations for genetic-epidemiology studies. Available at: http://hydra.usc.edu/gxe. 2006. Accessed August 10, 2011.