Please use this identifier to cite or link to this item: https://doi.org/10.1016/j.ajhg.2013.06.016
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dc.titleNine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error
dc.contributor.authorCheng, C.-Y.
dc.contributor.authorSchache, M.
dc.contributor.authorIkram, M.K.
dc.contributor.authorYoung, T.L.
dc.contributor.authorGuggenheim, J.A.
dc.contributor.authorVitart, V.
dc.contributor.authorMacGregor, S.
dc.contributor.authorVerhoeven, V.J.M.
dc.contributor.authorBarathi, V.A.
dc.contributor.authorLiao, J.
dc.contributor.authorHysi, P.G.
dc.contributor.authorBailey-Wilson, J.E.
dc.contributor.authorSt. Pourcain, B.
dc.contributor.authorKemp, J.P.
dc.contributor.authorMcMahon, G.
dc.contributor.authorTimpson, N.J.
dc.contributor.authorEvans, D.M.
dc.contributor.authorMontgomery, G.W.
dc.contributor.authorMishra, A.
dc.contributor.authorWang, Y.X.
dc.contributor.authorWang, J.J.
dc.contributor.authorRochtchina, E.
dc.contributor.authorPolasek, O.
dc.contributor.authorWright, A.F.
dc.contributor.authorAmin, N.
dc.contributor.authorVan Leeuwen, E.M.
dc.contributor.authorWilson, J.F.
dc.contributor.authorPennell, C.E.
dc.contributor.authorVan Duijn, C.M.
dc.contributor.authorDe Jong, P.T.V.M.
dc.contributor.authorVingerling, J.R.
dc.contributor.authorZhou, X.
dc.contributor.authorChen, P.
dc.contributor.authorLi, R.
dc.contributor.authorTay, W.-T.
dc.contributor.authorZheng, Y.
dc.contributor.authorChew, M.
dc.contributor.authorBurdon, K.P.
dc.contributor.authorCraig, J.E.
dc.contributor.authorIyengar, S.K.
dc.contributor.authorIgo Jr., R.P.
dc.contributor.authorLass Jr., J.H.
dc.contributor.authorChew, E.Y.
dc.contributor.authorHaller, T.
dc.contributor.authorMihailov, E.
dc.contributor.authorMetspalu, A.
dc.contributor.authorWedenoja, J.
dc.contributor.authorSimpson, C.L.
dc.contributor.authorWojciechowski, R.
dc.contributor.authorHöhn, R.
dc.contributor.authorMirshahi, A.
dc.contributor.authorZeller, T.
dc.contributor.authorPfeiffer, N.
dc.contributor.authorLackner, K.J.
dc.contributor.authorBettecken, T.
dc.contributor.authorMeitinger, T.
dc.contributor.authorOexle, K.
dc.contributor.authorPirastu, M.
dc.contributor.authorPortas, L.
dc.contributor.authorNag, A.
dc.contributor.authorWilliams, K.M.
dc.contributor.authorYonova-Doing, E.
dc.contributor.authorKlein, R.
dc.contributor.authorKlein, B.E.
dc.contributor.authorHosseini, S.M.
dc.contributor.authorPaterson, A.D.
dc.contributor.authorMakela, K.-M.
dc.contributor.authorLehtimaki, T.
dc.contributor.authorKahonen, M.
dc.contributor.authorRaitakari, O.
dc.contributor.authorYoshimura, N.
dc.contributor.authorMatsuda, F.
dc.contributor.authorChen, L.J.
dc.contributor.authorPang, C.P.
dc.contributor.authorYip, S.P.
dc.contributor.authorYap, M.K.H.
dc.contributor.authorMeguro, A.
dc.contributor.authorMizuki, N.
dc.contributor.authorInoko, H.
dc.contributor.authorFoster, P.J.
dc.contributor.authorZhao, J.H.
dc.contributor.authorVithana, E.
dc.contributor.authorTai, E.-S.
dc.contributor.authorFan, Q.
dc.contributor.authorXu, L.
dc.contributor.authorCampbell, H.
dc.contributor.authorFleck, B.
dc.contributor.authorRudan, I.
dc.contributor.authorAung, T.
dc.contributor.authorHofman, A.
dc.contributor.authorUitterlinden, A.G.
dc.contributor.authorBencic, G.
dc.contributor.authorKhor, C.-C.
dc.contributor.authorForward, H.
dc.contributor.authorPärssinen, O.
dc.contributor.authorMitchell, P.
dc.contributor.authorRivadeneira, F.
dc.contributor.authorHewitt, A.W.
dc.contributor.authorWilliams, C.
dc.contributor.authorOostra, B.A.
dc.contributor.authorTeo, Y.-Y.
dc.contributor.authorHammond, C.J.
dc.contributor.authorStambolian, D.
dc.contributor.authorMacKey, D.A.
dc.contributor.authorKlaver, C.C.W.
dc.contributor.authorWong, T.-Y.
dc.contributor.authorSaw, S.-M.
dc.contributor.authorBaird, P.N.
dc.date.accessioned2014-11-26T05:04:23Z
dc.date.available2014-11-26T05:04:23Z
dc.date.issued2013-08-08
dc.identifier.citationCheng, 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
dc.identifier.issn00029297
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/109001
dc.description.abstractRefractive 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.
dc.description.urihttp://libproxy1.nus.edu.sg/login?url=http://dx.doi.org/10.1016/j.ajhg.2013.06.016
dc.sourceScopus
dc.typeArticle
dc.contributor.departmentSAW SWEE HOCK SCHOOL OF PUBLIC HEALTH
dc.contributor.departmentOPHTHALMOLOGY
dc.contributor.departmentDUKE-NUS GRADUATE MEDICAL SCHOOL S'PORE
dc.description.doi10.1016/j.ajhg.2013.06.016
dc.description.sourcetitleAmerican Journal of Human Genetics
dc.description.volume93
dc.description.issue2
dc.description.page264-277
dc.description.codenAJHGA
dc.identifier.isiut000323186200006
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