Please use this identifier to cite or link to this item: https://doi.org/10.1016/j.ajhg.2013.06.016
Title: Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error
Authors: Cheng, C.-Y. 
Schache, M.
Ikram, M.K.
Young, T.L. 
Guggenheim, J.A.
Vitart, V.
MacGregor, S.
Verhoeven, V.J.M.
Barathi, V.A.
Liao, J.
Hysi, P.G.
Bailey-Wilson, J.E.
St. Pourcain, B.
Kemp, J.P.
McMahon, G.
Timpson, N.J.
Evans, D.M.
Montgomery, G.W.
Mishra, A.
Wang, Y.X.
Wang, J.J.
Rochtchina, E.
Polasek, O.
Wright, A.F.
Amin, N.
Van Leeuwen, E.M.
Wilson, J.F.
Pennell, C.E.
Van Duijn, C.M.
De Jong, P.T.V.M.
Vingerling, J.R.
Zhou, X. 
Chen, P.
Li, R.
Tay, W.-T.
Zheng, Y.
Chew, M.
Burdon, K.P.
Craig, J.E.
Iyengar, S.K.
Igo Jr., R.P.
Lass Jr., J.H.
Chew, E.Y.
Haller, T.
Mihailov, E.
Metspalu, A.
Wedenoja, J.
Simpson, C.L.
Wojciechowski, R.
Höhn, R.
Mirshahi, A.
Zeller, T.
Pfeiffer, N.
Lackner, K.J.
Bettecken, T.
Meitinger, T.
Oexle, K.
Pirastu, M.
Portas, L.
Nag, A.
Williams, K.M.
Yonova-Doing, E.
Klein, R.
Klein, B.E.
Hosseini, S.M.
Paterson, A.D.
Makela, K.-M.
Lehtimaki, T.
Kahonen, M.
Raitakari, O.
Yoshimura, N.
Matsuda, F.
Chen, L.J.
Pang, C.P.
Yip, S.P.
Yap, M.K.H.
Meguro, A.
Mizuki, N.
Inoko, H.
Foster, P.J.
Zhao, J.H.
Vithana, E.
Tai, E.-S.
Fan, Q.
Xu, L.
Campbell, H.
Fleck, B.
Rudan, I.
Aung, T.
Hofman, A.
Uitterlinden, A.G.
Bencic, G.
Khor, C.-C. 
Forward, H.
Pärssinen, O.
Mitchell, P.
Rivadeneira, F.
Hewitt, A.W.
Williams, C.
Oostra, B.A.
Teo, Y.-Y. 
Hammond, C.J.
Stambolian, D.
MacKey, D.A.
Klaver, C.C.W.
Wong, T.-Y. 
Saw, S.-M. 
Baird, P.N.
Issue Date: 8-Aug-2013
Citation: Cheng, C.-Y., Schache, M., Ikram, M.K., Young, T.L., Guggenheim, J.A., Vitart, V., MacGregor, S., Verhoeven, V.J.M., Barathi, V.A., Liao, J., Hysi, P.G., Bailey-Wilson, J.E., St. Pourcain, B., Kemp, J.P., McMahon, G., Timpson, N.J., Evans, D.M., Montgomery, G.W., Mishra, A., Wang, Y.X., Wang, J.J., Rochtchina, E., Polasek, O., Wright, A.F., Amin, N., Van Leeuwen, E.M., Wilson, J.F., Pennell, C.E., Van Duijn, C.M., De Jong, P.T.V.M., Vingerling, J.R., Zhou, X., Chen, P., Li, R., Tay, W.-T., Zheng, Y., Chew, M., Burdon, K.P., Craig, J.E., Iyengar, S.K., Igo Jr., R.P., Lass Jr., J.H., Chew, E.Y., Haller, T., Mihailov, E., Metspalu, A., Wedenoja, J., Simpson, C.L., Wojciechowski, R., Höhn, R., Mirshahi, A., Zeller, T., Pfeiffer, N., Lackner, K.J., Bettecken, T., Meitinger, T., Oexle, K., Pirastu, M., Portas, L., Nag, A., Williams, K.M., Yonova-Doing, E., Klein, R., Klein, B.E., Hosseini, S.M., Paterson, A.D., Makela, K.-M., Lehtimaki, T., Kahonen, M., Raitakari, O., Yoshimura, N., Matsuda, F., Chen, L.J., Pang, C.P., Yip, S.P., Yap, M.K.H., Meguro, A., Mizuki, N., Inoko, H., Foster, P.J., Zhao, J.H., Vithana, E., Tai, E.-S., Fan, Q., Xu, L., Campbell, H., Fleck, B., Rudan, I., Aung, T., Hofman, A., Uitterlinden, A.G., Bencic, G., Khor, C.-C., Forward, H., Pärssinen, O., Mitchell, P., Rivadeneira, F., Hewitt, A.W., Williams, C., Oostra, B.A., Teo, Y.-Y., Hammond, C.J., Stambolian, D., MacKey, D.A., Klaver, C.C.W., Wong, T.-Y., Saw, S.-M., Baird, P.N. (2013-08-08). Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. American Journal of Human Genetics 93 (2) : 264-277. ScholarBank@NUS Repository. https://doi.org/10.1016/j.ajhg.2013.06.016
Abstract: Refractive errors are common eye disorders of public health importance worldwide. Ocular axial length (AL) is the major determinant of refraction and thus of myopia and hyperopia. We conducted a meta-analysis of genome-wide association studies for AL, combining 12,531 Europeans and 8,216 Asians. We identified eight genome-wide significant loci for AL (RSPO1, C3orf26, LAMA2, GJD2, ZNRF3, CD55, MIP, and ALPPL2) and confirmed one previously reported AL locus (ZC3H11B). Of the nine loci, five (LAMA2, GJD2, CD55, ALPPL2, and ZC3H11B) were associated with refraction in 18 independent cohorts (n = 23,591). Differential gene expression was observed for these loci in minus-lens-induced myopia mouse experiments and human ocular tissues. Two of the AL genes, RSPO1 and ZNRF3, are involved in Wnt signaling, a pathway playing a major role in the regulation of eyeball size. This study provides evidence of shared genes between AL and refraction, but importantly also suggests that these traits may have unique pathways. © 2013 The American Society of Human Genetics.
Source Title: American Journal of Human Genetics
URI: http://scholarbank.nus.edu.sg/handle/10635/109001
ISSN: 00029297
DOI: 10.1016/j.ajhg.2013.06.016
Appears in Collections:Staff Publications

Show full item record
Files in This Item:
There are no files associated with this item.

SCOPUSTM   
Citations

55
checked on Dec 12, 2018

WEB OF SCIENCETM
Citations

51
checked on Dec 12, 2018

Page view(s)

76
checked on Dec 7, 2018

Google ScholarTM

Check

Altmetric


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.