New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8

Human Molecular Genetics

Volumn 19, Issue 21, 2010, Pages 4304-4311

  Vitart, Veronique ^a   Benčić, Goran ^b   Hayward, Caroline ^a   Škunca Herman, Jelena ^b   Huffman, Jennifer ^a   Campbell, Susan ^a   Bućan, Kajo ^c   Navarro, Pau ^a   Gunjaca, Grgo ^c   Marin, Josipa ^c   Zgaga, Lina ^d,e   Kolčić, Ivana ^e   Polašek, Ozren ^d,e   Kirin, Mirna ^d   Hastie, Nicholas D ^a   Wilson, James F ^d   Rudan, Igor ^c,d   Campbell, Harry ^d   Vatavuk, Zoran ^b   Fleck, Brian ^f   Wright, Alan ^a   more..

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b SESTRE MILOSRDNICE UNIVERSITY HOSPITAL   (Croatia)

^c UNIVERSITY OF SPLIT   (Croatia)

^d UNIVERSITY OF EDINBURGH   (United Kingdom)

^e UNIVERSITY OF ZAGREB   (Croatia)

^f PRINCESS ALEXANDRA EYE PAVILION   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 5; COLLAGEN TYPE 5 ALPHA 1; PROTEIN; PROTEIN AKAP13; PROTEIN AVGR8; SCAFFOLD PROTEIN; UNCLASSIFIED DRUG; ZINC FINGER 469; ZINC FINGER PROTEIN;

ADULT; AGED; ARTICLE; CELL SURFACE; CENTRAL CORNEA THICKNESS; CORNEA THICKNESS; EYE EXAMINATION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE REPLICATION; GENETIC ASSOCIATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; QUALITY CONTROL; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

A KINASE ANCHOR PROTEINS; COHORT STUDIES; COLLAGEN TYPE V; EPITHELIUM, CORNEAL; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS;

EID: 77957884591     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddq349     Document Type: Article

References (38)

1. Meek, K.M. and Fullwood, N.J. (2001) Corneal and scleral collagens-a microscopist's perspective. Micron, 32, 261-272.
2. Gordon, M.O., Beiser, J.A., Brandt, J.D., Heuer, D.K., Higginbotham, E.J., Johnson, C.A., Keltner, J.L., Miller, J.P., Parrish, R.K. II, Wilson, M.R. et al. (2002) The Ocular Hypertension Treatment Study: baseline factors that predict the onset of primary open-angle glaucoma. Arch. Ophthalmol., 120, 714-720. discussion 829-830.
3. Dueker, D.K., Singh, K., Lin, S.C., Fechtner, R.D., Minckler, D.S., Samples, J.R. and Schuman, J.S. (2007) Corneal thickness measurement in the management of primary open-angle glaucoma: a report by the American Academy of Ophthalmology. Ophthalmology, 114, 1779-1787.
4. Charlesworth, J., Kramer, P.L., Dyer, T., Diego, V., Samples, J.R., Craig, J.E., Mackey, D.A., Hewitt, A.W., Blangero, J. and Wirtz, M.K. (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., 51, 3509-3514.
5. Abu, A., Frydman, M., Marek, D., Pras, E., Nir, U. and Reznik-Wolf, H. (2008) Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. Am. J. Hum. Genet., 82, 1217-1222.
6. Moestrup, B. (1969) Tenuity of cornea with Ehlers-Danlos syndrome. Acta Ophthalmol. (Copenh.), 47, 704-708.
7. Pesudovs, K. (2004) Orbscan mapping in Ehlers-Danlos syndrome. J. Cataract Refract. Surg., 30, 1795-1798.
8. Blumcke, S., Niedorf, H.R., Thiel, H.J. and Langness, U. (1972) Histochemical and fine structural studies on the cornea with osteogenesis imperfecta congenita. Virchows Arch. B Cell Pathol., 11, 124-132.
9. Hayes, S., Boote, C., Tuft, S.J., Quantock, A.J. and Meek, K.M. (2007) A study of corneal thickness, shape and collagen organisation in keratoconus using videokeratography and X-ray scattering techniques. Exp. Eye Res., 84, 423-434.
10. Zheng, Y., Ge, J., Huang, G., Zhang, J., Liu, B., Hur, Y.M. and He, M. (2008) Heritability of central corneal thickness in Chinese: the Guangzhou Twin Eye Study. Invest. Ophthalmol. Vis. Sci., 49, 4303-4307.
11. Vitart, V., Bencic, G., Hayward, C., Herman, J.S., Huffman, J., Campbell, S., Bucan, K., Zgaga, L., Kolcic, I., Polasek, O. et al. Heritabilities of ocular biometrical traits in two croatian isolates with extended pedigrees. Invest. Ophthalmol. Vis. Sci., 51, 737-743.
12. Toh, T., Liew, S.H., MacKinnon, J.R., Hewitt, A.W., Poulsen, J.L., Spector, T.D., Gilbert, C.E., Craig, J.E., Hammond, C.J. and Mackey, D.A. (2005) Central corneal thickness is highly heritable: the twin eye studies. Invest. Ophthalmol. Vis. Sci., 46, 3718-3722.
13. Lu, Y., Dimasi, D.P., Hysi, P.G., Hewitt, A.W., Burdon, K.P., Toh, T., Ruddle, J.B., Li, Y.J., Mitchell, P., Healey, P.R. 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.
14. Quantock, A.J. and Young, R.D. (2008) Development of the corneal stroma, and the collagen-proteoglycan associations that help define its structure and function. Dev. Dyn., 237, 2607-2621.
15. De Paepe, A., Nuytinck, L., Hausser, I., Anton-Lamprecht, I. and Naeyaert, J.M. (1997) Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. Am. J. Hum. Genet., 60, 547-554.
16. Stabuc-Silih, M., Ravnik-Glavac, M., Glavac, D., Hawlina, M. and Strazisar, M. (2009) Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus. Mol. Vis., 15, 2848-2860.
17. Navarro, P., Vitart, V., Hayward, C., Tenesa, A., Zgaga, L., Juricic, D., Polasek, O., Hastie, N.D., Rudan, I., Campbell, H. et al. (2010) Genetic comparison of a Croatian isolate and CEPH European founders. Genet. Epidemiol., 34, 140-145.
18. Birk, D.E., Fitch, J.M., Babiarz, J.P. and Linsenmayer, T.F. (1988) Collagen type I and type V are present in the same fibril in the avian corneal stroma. J. Cell Biol., 106, 999-1008.
19. Fichard, A., Kleman, J.P. and Ruggiero, F. (1995) Another look at collagen V and XI molecules. Matrix Biol., 14, 515-531.
20. Birk, D.E. (2001) Type V collagen: heterotypic type I/V collagen interactions in the regulation of fibril assembly. Micron, 32, 223-237.
21. Segev, F., Heon, E., Cole, W.G., Wenstrup, R.J., Young, F., Slomovic, A.R., Rootman, D.S., Whitaker-Menezes, D., Chervoneva, I. and Birk, D.E. (2006) Structural abnormalities of the cornea and lid resulting from collagen V mutations. Invest. Ophthalmol. Vis. Sci., 47, 565-573.
22. Wenstrup, R.J., Florer, J.B., Davidson, J.M., Phillips, C.L., Pfeiffer, B.J., Menezes, D.W., Chervoneva, I. and Birk, D.E. (2006) Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages. J. Biol. Chem., 281, 12888-12895.
23. Wang, K., Dickson, S.P., Stolle, C.A., Krantz, I.D., Goldstein, D.B. and Hakonarson, H. (2010) Interpretation of association signals and identification of causal variants from genome-wide association studies. Am. J. Hum. Genet., 86, 730-742.
24. Ormestad, M., Astorga, J., Landgren, H., Wang, T., Johansson, B.R., Miura, N. and Carlsson, P. (2006) Foxf1 and Foxf2 control murine gut development by limiting mesenchymal Wnt signaling and promoting extracellular matrix production. Development, 133, 833-843.
25. Lehmann, O.J., Tuft, S., Brice, G., Smith, R., Blixt, A., Bell, R., Johansson, B., Jordan, T., Hitchings, R.A., Khaw, P.T. et al. (2003) Novel anterior segment phenotypes resulting from forkhead gene alterations: evidence for cross-species conservation of function. Invest. Ophthalmol. Vis. Sci., 44, 2627-2633.
26. Dickson, S.P., Wang, K., Krantz, I., Hakonarson, H. and Goldstein, D.B. (2010) Rare variants create synthetic genome-wide associations. PLoS Biol., 8, e1000294.
27. Moose, H.E., Kelly, L.E., Nekkalapudi, S. and El-Hodiri, H.M. (2009) Ocular forkhead transcription factors: seeing eye to eye. Int. J. Dev. Biol., 53, 29-36.
28. Smith, R.S., Zabaleta, A., Kume, T., Savinova, O.V., Kidson, S.H., Martin, J.E., Nishimura, D.Y., Alward, W.L., Hogan, B.L. and John, S.W. (2000) Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development. Hum. Mol. Genet., 9, 1021-1032.
29. Figueira, E.C., Di Girolamo, N., Coroneo, M.T. and Wakefield, D. (2007) The phenotype of limbal epithelial stem cells. Invest. Ophthalmol. Vis. Sci., 48, 144-156.
30. Berry, F.B., Skarie, J.M., Mirzayans, F., Fortin, Y., Hudson, T.J., Raymond, V., Link, B.A. and Walter, M.A. (2008) FOXC1 is required for cell viability and resistance to oxidative stress in the eye through the transcriptional regulation of FOXO1A. Hum. Mol. Genet., 17, 490-505.
31. Repapi, E., Sayers, I., Wain, L.V., Burton, P.R., Johnson, T., Obeidat, M., Zhao, J.H., Ramasamy, A., Zhai, G., Vitart, V. et al. (2010) Genome-wide association study identifies five loci associated with lung function. Nat. Genet., 42, 36-44.
32. Aulchenko, Y.S., Ripke, S., Isaacs, A. and van Duijn, C.M. (2007) GenABEL: an R library for genome-wide association analysis. Bioinformatics, 23, 1294-1296.
33. Aulchenko, Y.S., Struchalin, M.V. and van Duijn, C.M. (2010) ProbABEL package for genome-wide association analysis of imputed data. BMC Bioinformatics, 11, 134.
34. Thompson, E.A. and Shaw, R.G. (1990) Pedigree analysis for quantitative traits: variance components without matrix inversion. Biometrics, 46, 399-413.
35. Chen, W.M. and Abecasis, G.R. (2007) Family-based association tests for genomewide association scans. Am. J. Hum. Genet., 81, 913-926.
36. Pe'er, I., Yelensky, R., Altshuler, D. and Daly, M.J. (2008) Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genet. Epidemiol., 32, 381-385.
37. Barrett, J.C., Fry, B., Maller, J. and Daly, M.J. (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics, 21, 263-265.
38. Johnson, A.D., Handsaker, R.E., Pulit, S.L., Nizzari, M.M., O'Donnell, C.J. and de Bakker, P.I. (2008) SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap. Bioinformatics, 24, 2938-2939.