WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness

Human Molecular Genetics

Volumn 24, Issue 17, 2015, Pages 5060-5068

  Cuellar Partida, Gabriel ^a   Springelkamp, Henriët ^b   Lucas, Sionne E M ^c   Yazar, Seyhan ^e   Hewitt, Alex W ^d,j   Iglesias, Adriana I ^b   Montgomery, Grant W ^a   Martin, Nicholas G ^a   Pennell, Craig E ^f   van Leeuwen, Elisabeth M ^b   Verhoeven, Virginie J M ^b   Hofman, Albert ^b,g   Uitterlinden, André G ^b,g   Ramdas, Wishal D ^b   Wolfs, Roger C W ^b   Vingerling, Johannes R ^b   Brown, Matthew A ^h   Mills, Richard A ⁱ   Craig, Jamie E ⁱ   Klaver, Caroline C W ^b   van Duijn, Cornelia M ^b   Burdon, Kathryn P ^c   MacGregor, Stuart ^a   Mackey, David A ^e   more..

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF TASMANIA   (Australia)

^d UNIVERSITY OF TASMANIA   (Australia)

^e UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^f UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^g Netherlands Genomics Initiative   (Netherlands)

^h UNIVERSITY OF QUEENSLAND   (Australia)

ⁱ FLINDERS UNIVERSITY   (Australia)

^j UNIVERSITY OF MELBOURNE   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

WNT10A PROTEIN; WNT PROTEIN; WNT10A PROTEIN, HUMAN;

ARTICLE; AUSTRALIA; CENTRAL CORNEAL THICKNESS; CONTROLLED STUDY; CORNEA THICKNESS; EXON; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN CELL; KERATOCONUS; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; ADULT; AGED; CORNEA; FEMALE; FOLLOW UP; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; MALE; METABOLISM; MIDDLE AGED; PATHOLOGY; PHENOTYPE; RISK; YOUNG ADULT;

ADULT; AGED; AUSTRALIA; CORNEA; EXONS; FEMALE; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; HUMANS; KERATOCONUS; MALE; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK; WNT PROTEINS; YOUNG ADULT;

EID: 84941919093     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv211     Document Type: Article

References (51)

1. Rabinowitz, Y.S. (1998) Keratoconus. Surv. Ophthalmol., 42, 297-319.
2. Bikbov, M.M., Bikbova, G.M. and Khabibullin, A.F. (2011) Corneal collagen cross-linking in keratoconus management. Vestn. Oftalm., 127, 21-25.
3. Randleman, J.B., Russell, B., Ward, M.A., Thompson, K.P. and Stulting, R.D. (2003) Risk factors and prognosis for corneal ectasia after LASIK. Ophthalmology, 110, 267-275.
4. Burdon, K.P. and Vincent, A.L. (2013) Insights into keratoconus from a genetic perspective. Clin Exp Optom., 96, 146-154.
5. Davidson, A.E., Hayes, S., Hardcastle, A.J. and Tuft, S.J. (2014) The pathogenesis of keratoconus. Eye, 28, 189-195.
6. Li, X., Bykhovskaya, Y., Haritunians, T., Siscovick, D., Aldave, A., Szczotka-Flynn, L., Iyengar, S.K., Rotter, J.I., Taylor, K.D. and Rabinowitz, Y.S. (2012) A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries. Hum. Mol. Genet., 21, 421-429.
7. Lu, Y., Vitart, V., Burdon, K.P., Khor, C.C., Bykhovskaya, Y., Mirshahi, A., Hewitt, A.W., Koehn, D., Hysi, P.G., Ramdas, W.D. et al. (2013) Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nat. Genet., 45, 155-163.
8. Dimasi, D.P., Burdon, K.P. and Craig, J.E. (2010) The genetics of central corneal thickness. Brit. J. Ophthalmol., 94, 971-976.
9. Yazar, S., Forward, H., McKnight, C.M., Tan, A., Soloshenko, A., Oates, S.K., Ang,W., Sherwin, J.C.,Wood, D.,Mountain, J.A. et al. (2013) Raine eye health study: design, methodology and baseline prevalence of ophthalmic disease in a birth-cohort study of young adults. Ophthalmic Genet., 34, 199-208.
10. Hofman, A., Darwish Murad, S., van Duijn, C.M., Franco, O.H., Goedegebure, A., Ikram, M.A., Klaver, C.C., Nijsten, T.E., Peeters, R.P., Stricker, B.H. et al. (2013) The Rotterdam Study: 2014 objectives and design update. Eur. J. Epidemiol., 28, 889-926.
11. Wright, M.J. and Martin, N.G. (2011) Brisbane Adolescent Twin Study: outline of study methods and research projects. Aust. J. Psychol., 56, 65-78.
12. Mackey, D.A., Mackinnon, J.R., Brown, S.A., Kearns, L.S., Ruddle, J.B., Sanfilippo, P.G., Sun, C., Hammond, C.J., Young, T.L., Martin, N.G. et al. (2009) Twins eye study in Tasmania (TEST): rationale and methodology to recruit and examine twins. Twin Res. Hum. Genet., 12, 441-454.
13. Yang, J.,Weedon, M.N., Purcell, S., Lettre, G., Estrada, K.,Willer, C.J., Smith, A.V., Ingelsson, E., O'Connell, J.R., Mangino, M. et al. (2011) Genomic inflation factors under polygenic inheritance. Eur. J. Hum. Genet., 19, 807-812.
14. Wagner, A.H., Anand, V.N.,Wang,W.H., Chatterton, J.E., Sun, D., Shepard, A.R., Jacobson, N., Pang, I.H., Deluca, A.P., Casavant, T.L. et al. (2013) Exon-level expression profiling of ocular tissues. Exp. Eye Res., 111, 105-111.
15. Ng, P.C. and Henikoff, S. (2003) SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res., 31, 3812-3814.
16. Adzhubei, I.A., Schmidt, S., Peshkin, L., Ramensky, V.E., Gerasimova, A., Bork, P., Kondrashov, A.S. and Sunyaev, S.R. (2010) A method and server for predicting damaging missense mutations. Nat. Methods, 7, 248-249.
17. Cuellar-Partida, G., Renteria, M.E. andMacGregor, S. (2015) LocusTrack: integrated visualization of GWAS results and genomic annotation. Source Code Biol. Med., 10, 1.
18. Safran, M., Dalah, I., Alexander, J., Rosen, N., Iny Stein, T., Shmoish, M., Nativ, N., Bahir, I., Doniger, T., Krug, H. et al. (2010) GeneCards Version 3: the human gene integrator. Database, 2010, baq020.
19. Lee, S., Emond, M.J., Bamshad, M.J., Barnes, K.C., Rieder, M.J. and Nickerson, D.A., NHLBI GO Exome Sequencing Project-ESP Lung Project Team, Christiani, D.C., Wurfel, M.M. and Lin, X. (2012) Optimal unified approach for rare-variant association testing with application to small-sample case-control wholeexome sequencing studies. Am. J. Hum. Genet., 91, 224-237.
20. Nakatsu, M.N., Ding, Z., Ng, M.Y., Truong, T.T., Yu, F. and Deng, S.X. (2011) Wnt/beta-catenin signaling regulates proliferation of human cornea epithelial stem/progenitor cells. Invest. Ophthalmol. Vis. Sci., 52, 4734-4741.
21. Nusse, R. (2008) Wnt signaling and stem cell control. Cell Res., 18, 523-527.
22. Ouyang, H., Xue, Y., Lin, Y., Zhang, X., Xi, L., Patel, S., Cai, H., Luo, J., Zhang, M., Zhang, M. et al. (2014) WNT7A and PAX6 define corneal epithelium homeostasis and pathogenesis. Nature, 511, 358-361.
23. Hirata-Tominaga, K., Nakamura, T., Okumura, N., Kawasaki, S., Kay, E.P., Barrandon, Y., Koizumi, N. and Kinoshita, S. (2013) Corneal endothelial cell fate is maintained by LGR5 through the regulation of hedgehog and Wnt pathway. Stem Cells, 31, 1396-1407.
24. Meek, K.M., Leonard, D.W., Connon, C.J., Dennis, S. and Khan, S. (2003) Transparency, swelling and scarring in the corneal stroma. Eye, 17, 927-936.
25. Srinivas, S.P. (2010) Dynamic regulation of barrier integrity of the corneal endothelium. Optom. Vis. Sci., 87, E239-E254.
26. Fan Gaskin, J.C., Patel, D.V. and McGhee, C.N. (2014) Acute corneal hydrops in keratoconus-new perspectives. Am. J. Ophthalmol., 157, 921-928.
27. Hiratsuka, Y., Nakayasu, K. and Kanai, A. (2000) Secondary keratoconus with corneal epithelial iron ring similar to Fleischer's ring. Jpn J. Ophthalmol., 44, 381-386.
28. Reinstein, D.Z., Archer, T.J. and Gobbe, M. (2009) Corneal epithelial thickness profile in the diagnosis of keratoconus. J. Refract. Surg., 25, 604-610.
29. Zhou,W. and Stojanovic, A. (2014) Comparison of corneal epithelial and stromal thickness distributions between eyes with keratoconus and healthy eyes with corneal astigmatism >/= 2.0 D. PLoS One, 9, e85994.
30. Sejpal, K., Bakhtiari, P. and Deng, S.X. (2013) Presentation, diagnosis and management of limbal stem cell deficiency. Middle East Afr. J. Ophthalmol., 20, 5-10.
31. Kantaputra, P., Kaewgahya, M., Jotikasthira, D. and Kantaputra, W. (2014) Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations. Am. J. Med. Genet. A, 164A, 1041-1048.
32. Nawaz, S., Klar, J.,Wajid, M., Aslam, M., Tariq, M., Schuster, J., Baig, S.M. and Dahl, N. (2009) WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome. Eur. J. Hum. Genet., 17, 1600-1605.
33. Zirbel, G.M., Ruttum, M.S., Post, A.C. and Esterly, N.B. (1995) Odonto-onycho-dermal dysplasia.Brit. J.Dermatol., 133, 797-800.
34. Evereklioglu, C., Madenci, E., Bayazit, Y.A., Yilmaz, K., Balat, A. and Bekir, N.A. (2002) Central corneal thickness is lower in osteogenesis imperfecta and negatively correlates with the presence of blue sclera. Ophthalmic Physiol. Opt., 22, 511-515.
35. Pedersen, U. and Bramsen, T. (1984) Central corneal thickness in osteogenesis imperfecta and otosclerosis. ORL J. Otorhinolaryngol. Relat. Spec., 46, 38-41.
36. Cisternas, P., Vio, C.P. and Inestrosa, N.C. (2014) Role of Wnt signaling in tissue fibrosis, lessons from skeletal muscle and kidney. Curr. Mol. Med., 14, 510-522.
37. Lloyd, S.A., Loiselle, A.E., Zhang, Y. and Donahue, H.J. (2014) Shifting paradigms on the role of connexin43 in the skeletal response to mechanical load. J. Bone Miner. Res., 29, 275-286.
38. Xie, J., Tong, P.J. and Xiao, L.W. (2013) Progress on Wnt/beta-catenin signal pathway regulating the cartilage metabolism in osteonecrosis. Zhongguo gu Shang. China J. Orthop. Traumatol., 26, 613-616.
39. Michelacci,Y.M. (2003) Collagens and proteoglycans of the corneal extracellular matrix. Braz. J. Med. Biol. Res., 36, 1037-1046.
40. Dua, H.S., Faraj, L.A., Said, D.G., Gray, T. and Lowe, J. (2013) Human corneal anatomy redefined: a novel pre-Descemet's layer (Dua's layer). Ophthalmology, 120, 1778-1785.
41. Hayashi, S., Osawa, T. and Tohyama, K. (2002) Comparative observations on corneas, with special reference to Bowman's layer and Descemet's membrane in mammals and amphibians. J. Morphol., 254, 247-258.
42. McKnight, C.M., Newnham, J.P., Stanley, F.J., Mountain, J.A., Landau, L.I., Beilin, L.J., Puddey, I.B., Pennell, C.E. and Mackey, D.A. (2012) Birth of a cohort-the first 20 years of the Raine study. Med. J. Austr., 197, 608-610.
43. Huyghe, J.R., Jackson, A.U., Fogarty, M.P., Buchkovich, M.L., Stancakova, A., Stringham, H.M., Sim, X., Yang, L., Fuchsberger, C., Cederberg, H. et al. (2013) Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion. Nat. Genet., 45, 197-201.
44. Genomes Project, C., Abecasis, G.R., Auton, A., Brooks, L.D., De-Pristo, M.A., Durbin, R.M., Handsaker, R.E., Kang, H.M., Marth, G.T. and McVean, G.A. (2012) An integrated map of genetic variation from 1,092 human genomes. Nature, 491, 56-65.
45. Goldstein, J.I., Crenshaw, A., Carey, J., Grant, G.B., Maguire, J., Fromer, M., O'Dushlaine, C., Moran, J.L., Chambert, K., Stevens, C. et al. (2012) zCall: a rare variant caller for array-based genotyping: genetics and population analysis. Bioinformatics, 28, 2543-2545.
46. Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M.A., Bender, D., Maller, J., Sklar, P., de Bakker, P.I., Daly, M.J. et al. (2007) PLINK: a tool set forwhole-genome association and population-based linkage analyses. Am. J. Hum. Genet., 81, 559-575.
47. Chang, C.C., Chow, C.C., Tellier, L.C.A.M., Vattikuti, S., Purcell, S.M. and Lee, J.J. (2015) Second-generation PLINK: rising to the challenge of larger and richer datasets. GigaScience, 4, 7.
48. Harris, M.A., Clark, J., Ireland, A., Lomax, J., Ashburner, M., Foulger, R., Eilbeck, K., Lewis, S., Marshall, B., Mungall, C. et al. (2004) The Gene Ontology (GO) database and informatics resource. Nucleic Acids Res., 32, D258-D261.
49. Li, Y., Willer, C.J., Ding, J., Scheet, P. and Abecasis, G.R. (2010) MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet. Epidemiol., 34, 816-834.
50. 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.
51. Abecasis, G.R., Cherny, S.S., Cookson, W.O. and Cardon, L.R. (2002) Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat. Genet., 30, 97-101.