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Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error

journal contribution
posted on 2023-05-17, 23:36 authored by Cheng, C-Y, Schache, M, Ikram, MK, Young, TL, Guggenheim, JA, Vitart, V, MacGregor, S, Verhoeven, VJM, Barathi, VA, Liao, J, Hysi, PG, Bailey-Wilson, JE, St Pourcain, B, Kemp, JP, McMahon, G, Timpson, NJ, Evans, DM, Montgomery, GW, Mishra, A, Wang, YX, Wang, JJ, Rochtchina, E, Polasek, O, Wright, AF, Amin, N, Van Leeuwen, EM, Wilson, JF, Pennell, CE, Van Duijn, CM, De Jong, PTVM, Vingerling, JR, Zhou, X, Chen, P, Li, R, Tay, WT, Zheng, Y, Chew, M, Kathryn BurdonKathryn Burdon, Craig, JE, Iyengar, SK, Igo Jr, RP, Lass Jr, JH, Chew, EY, Haller, T, Mihailov, E, Metspalu, A, Wedenoja, J, Simpson, CL, Wojciechowski, R, Hohn, R, Mirshahi, A, Zeller, T, Pfeiffer, N, Lackner, KJ, Bettecken, T, Meitinger, T, Oexle, K, Pirastu, M, Portas, L, Nag, A, Williams, KM, Yonova-Doing, E, Klein, R, Klein, BE, Hosseini, SM, Paterson, AD, Makela, KM, Lehtimaki, T, Kahonen, M, Raitakari, O, Yoshimura, N, Matsuda, F, Chen, LJ, Pang, CP, Yip, SP, Yap, MKH, Meguro, A, Mizuki, N, Inoko, H, Foster, PJ, Zhao, JH, Vithana, E, Tai, ES, Fan, Q, Xu, L, Campbell, H, Fleck, B, Rudan, I, Aung, T, Hofman, A, Uitterlinden, AGI, Bencic, G, Khor, CC, Forward, H, Parssinen, O, Mitchell, P, Rivadeneira, F, Alexander HewittAlexander Hewitt, Williams, C, Oostra, BA, Teo, YY, Hammond, CJ, Stambolian, D, David MackeyDavid Mackey, Klaver, CCW, Wong, TY, Saw, SM, Baird, PN
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.


Publication title

American Journal of Human Genetics: A Record of Research, Review and Bibliographic Material Relating to Heredity in Man








Menzies Institute for Medical Research


Univ Chicago Press

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Copyright 2013 The American Society of Human Genetics.

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Clinical health not elsewhere classified

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