Please use this identifier to cite or link to this item: https://doi.org/10.1038/s42003-020-0802-y
Title: Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error
Authors: Fan, Q. 
Pozarickij, A.
Tan, N.Y.Q. 
Guo, X.
Verhoeven, V.J.M.
Vitart, V.
Guggenheim, J.A.
Miyake, M.
Tideman, J.W.L.
Khawaja, A.P.
Zhang, L.
MacGregor, S.
Höhn, R.
Chen, P. 
Biino, G.
Wedenoja, J.
Saffari, S.E. 
Tedja, M.S.
Xie, J.
Lanca, C.
Wang, Y.X.
Sahebjada, S.
Mazur, J.
Mirshahi, A.
Martin, N.G.
Yazar, S.
Pennell, C.E.
Yap, M.
Haarman, A.E.G.
Enthoven, C.A.
Polling, J.R.
Bailey-Wilson, J.E.
Veluchamy, A.B.
Burdon, K.P.
Campbell, H.
Chen, L.J.
Chew, E.Y.
Craig, J.E.
Cumberland, P.M.
Deangelis, M.M.
Delcourt, C.
Ding, X.
Evans, D.M.
Gharahkhani, P.
Iglesias, A.I.
Haller, T.
Han, X.
Hoang, Q.
Igo, R.P.
Iyengar, S.K.
Kähönen, M.
Kaprio, J.
Klein, B.E.
Klein, R.
Lass, J.H.
Lee, K.
Lehtimäki, T.
Lewis, D.D.
Li, Q.
Li, S.-M.
Lyytikäinen, L.-P.
Meguro, A.
Metspalu, A.
Middlebrooks, C.D.
Mizuki, N.
Musolf, A.M.
Nickels, S.
Oexle, K.
Pang, C.P.
Paterson, A.D.
Rahi, J.S.
Raitakari, O.
Rudan, I.
Stambolian, D.
Simpson, C.L.
Wang, N.
Bin Wei, W.
Williams, K.M.
Wilson, J.F.
Wojciechowski, R.
Yamashiro, K.
Yam, J.C.S.
Zhou, X.
Aslam, T.
Barman, S.A.
Barrett, J.H.
Bishop, P.
Blows, P.
Bunce, C.
Carare, R.O.
Chakravarthy, U.
Chan, M.
Chua, S.Y.L.
Crabb, D.P.
Cumberland, P.M.
Day, A.
Desai, P.
Dhillon, B.
Dick, A.D.
Egan, C.
Ennis, S.
Fruttiger, M.
Gallacher, J.E.J.
Garway-Heath, D.F.
Gibson, J.
Gore, D.
Hardcastle, A.
Harding, S.P.
Hogg, R.E.
Keane, P.A.
Khaw, S.P.T.
Lascaratos, G.
Lotery, A.J.
Macgillivray, T.
Mackie, S.
Martin, K.
McGaughey, M.
McGuinness, B.
McKay, G.J.
McKibbin, M.
Mitry, D.
Moore, T.
Morgan, J.E.
Muthy, Z.A.
O’Sullivan, E.
Owen, C.G.
Patel, P.
Paterson, E.
Peto, T.
Petzold, A.
Rahi, J.S.
Rudnikca, A.R.
Self, J.
Sivaprasad, S.
Steel, D.
Stratton, I.
Strouthidis, N.
Sudlow, C.
Thomas, D.
Trucco, E.
Tufail, A.
Vernon, S.A.
Viswanathan, A.C.
Williams, K.
Woodside, J.V.
Yates, M.M.
Yip, J.
Zheng, Y.
Hewitt, A.W.
Jaddoe, V.W.V.
van Duijn, C.M.
Hayward, C.
Polasek, O.
Tai, E.-S. 
Yoshikatsu, H.
Hysi, P.G.
Young, T.L.
Tsujikawa, A.
Wang, J.J.
Mitchell, P.
Pfeiffer, N.
Pärssinen, O.
Foster, P.J.
Fossarello, M.
Yip, S.P.
Williams, C.
Hammond, C.J.
Jonas, J.B.
He, M.
Mackey, D.A.
Wong, T.-Y. 
Klaver, C.C.W.
Saw, S.-M. 
Baird, P.N.
Cheng, C.-Y. 
Consortium for Refractive Error and Myopia (CREAM).
UK Biobank Eye and Vision Consortium.
Issue Date: 19-Mar-2020
Publisher: Nature Research
Citation: Fan, Q., Pozarickij, A., Tan, N.Y.Q., Guo, X., Verhoeven, V.J.M., Vitart, V., Guggenheim, J.A., Miyake, M., Tideman, J.W.L., Khawaja, A.P., Zhang, L., MacGregor, S., Höhn, R., Chen, P., Biino, G., Wedenoja, J., Saffari, S.E., Tedja, M.S., Xie, J., Lanca, C., Wang, Y.X., Sahebjada, S., Mazur, J., Mirshahi, A., Martin, N.G., Yazar, S., Pennell, C.E., Yap, M., Haarman, A.E.G., Enthoven, C.A., Polling, J.R., Bailey-Wilson, J.E., Veluchamy, A.B., Burdon, K.P., Campbell, H., Chen, L.J., Chew, E.Y., Craig, J.E., Cumberland, P.M., Deangelis, M.M., Delcourt, C., Ding, X., Evans, D.M., Gharahkhani, P., Iglesias, A.I., Haller, T., Han, X., Hoang, Q., Igo, R.P., Iyengar, S.K., Kähönen, M., Kaprio, J., Klein, B.E., Klein, R., Lass, J.H., Lee, K., Lehtimäki, T., Lewis, D.D., Li, Q., Li, S.-M., Lyytikäinen, L.-P., Meguro, A., Metspalu, A., Middlebrooks, C.D., Mizuki, N., Musolf, A.M., Nickels, S., Oexle, K., Pang, C.P., Paterson, A.D., Rahi, J.S., Raitakari, O., Rudan, I., Stambolian, D., Simpson, C.L., Wang, N., Bin Wei, W., Williams, K.M., Wilson, J.F., Wojciechowski, R., Yamashiro, K., Yam, J.C.S., Zhou, X., Aslam, T., Barman, S.A., Barrett, J.H., Bishop, P., Blows, P., Bunce, C., Carare, R.O., Chakravarthy, U., Chan, M., Chua, S.Y.L., Crabb, D.P., Cumberland, P.M., Day, A., Desai, P., Dhillon, B., Dick, A.D., Egan, C., Ennis, S., Fruttiger, M., Gallacher, J.E.J., Garway-Heath, D.F., Gibson, J., Gore, D., Hardcastle, A., Harding, S.P., Hogg, R.E., Keane, P.A., Khaw, S.P.T., Lascaratos, G., Lotery, A.J., Macgillivray, T., Mackie, S., Martin, K., McGaughey, M., McGuinness, B., McKay, G.J., McKibbin, M., Mitry, D., Moore, T., Morgan, J.E., Muthy, Z.A., O’Sullivan, E., Owen, C.G., Patel, P., Paterson, E., Peto, T., Petzold, A., Rahi, J.S., Rudnikca, A.R., Self, J., Sivaprasad, S., Steel, D., Stratton, I., Strouthidis, N., Sudlow, C., Thomas, D., Trucco, E., Tufail, A., Vernon, S.A., Viswanathan, A.C., Williams, K., Woodside, J.V., Yates, M.M., Yip, J., Zheng, Y., Hewitt, A.W., Jaddoe, V.W.V., van Duijn, C.M., Hayward, C., Polasek, O., Tai, E.-S., Yoshikatsu, H., Hysi, P.G., Young, T.L., Tsujikawa, A., Wang, J.J., Mitchell, P., Pfeiffer, N., Pärssinen, O., Foster, P.J., Fossarello, M., Yip, S.P., Williams, C., Hammond, C.J., Jonas, J.B., He, M., Mackey, D.A., Wong, T.-Y., Klaver, C.C.W., Saw, S.-M., Baird, P.N., Cheng, C.-Y., Consortium for Refractive Error and Myopia (CREAM)., UK Biobank Eye and Vision Consortium. (2020-03-19). Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error. Communications Biology 3 (1) : 133. ScholarBank@NUS Repository. https://doi.org/10.1038/s42003-020-0802-y
Rights: Attribution 4.0 International
Abstract: Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in 44, 042 individuals of Caucasian and Asian with replication in 88, 218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal curvature and eye elongation (i.e. axial length) to maintain eyes in emmetropia (i.e. HDAC11/FBLN2 rs2630445, RBP3 rs11204213); others exhibited association with myopia with little pleiotropic effects on eye elongation. Implicated genes are involved in extracellular matrix organization, developmental process for body and eye, connective tissue cartilage and glycosylation protein activities. Our study provides insights into population-specific novel genes for corneal curvature, and their pleiotropic effect in regulating eye size or conferring susceptibility to myopia. © 2020, The Author(s).
Source Title: Communications Biology
URI: https://scholarbank.nus.edu.sg/handle/10635/198570
ISSN: 23993642
DOI: 10.1038/s42003-020-0802-y
Rights: Attribution 4.0 International
Appears in Collections:Staff Publications
Elements

Show full item record
Files in This Item:
File Description SizeFormatAccess SettingsVersion 
10_1038_s42003_020_0802_y.pdf2.31 MBAdobe PDF

OPEN

NoneView/Download

SCOPUSTM   
Citations

7
checked on Jan 14, 2022

Page view(s)

41
checked on Jan 20, 2022

Google ScholarTM

Check

Altmetric


This item is licensed under a Creative Commons License Creative Commons