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


Cheng, C-Y and Schache, M and Ikram, MK and Young, TL and Guggenheim, JA and Vitart, V and MacGregor, S and Verhoeven, VJM and Barathi, VA and Liao, J and Hysi, PG and Bailey-Wilson, JE and St Pourcain, B and Kemp, JP and McMahon, G and Timpson, NJ and Evans, DM and Montgomery, GW and Mishra, A and Wang, YX and Wang, JJ and Rochtchina, E and Polasek, O and Wright, AF and Amin, N and Van Leeuwen, EM and Wilson, JF and Pennell, CE and Van Duijn, CM and De Jong, PTVM and Vingerling, JR and Zhou, X and Chen, P and Li, R and Tay, WT and Zheng, Y and Chew, M and Burdon, KP and Craig, JE and Iyengar, SK and Igo Jr, RP and Lass Jr, JH and Chew, EY and Haller, T and Mihailov, E and Metspalu, A and Wedenoja, J and Simpson, CL and Wojciechowski, R and Hohn, R and Mirshahi, A and Zeller, T and Pfeiffer, N and Lackner, KJ and Bettecken, T and Meitinger, T and Oexle, K and Pirastu, M and Portas, L and Nag, A and Williams, KM and Yonova-Doing, E and Klein, R and Klein, BE and Hosseini, SM and Paterson, AD and Makela, KM and Lehtimaki, T and Kahonen, M and Raitakari, O and Yoshimura, N and Matsuda, F and Chen, LJ and Pang, CP and Yip, SP and Yap, MKH and Meguro, A and Mizuki, N and Inoko, H and Foster, PJ and Zhao, JH and Vithana, E and Tai, ES and Fan, Q and Xu, L and Campbell, H and Fleck, B and Rudan, I and Aung, T and Hofman, A and Uitterlinden, AGI and Bencic, G and Khor, CC and Forward, H and Parssinen, O and Mitchell, P and Rivadeneira, F and Hewitt, AW and Williams, C and Oostra, BA and Teo, YY and Hammond, CJ and Stambolian, D and Mackey, DA and Klaver, CCW and Wong, TY and Saw, SM and Baird, PN, Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error, American Journal of Human Genetics: A Record of Research, Review and Bibliographic Material Relating to Heredity in Man, 93, (2) pp. 264-277. ISSN 0002-9297 (2013) [Refereed Article]

Copyright Statement

Copyright 2013 The American Society of Human Genetics.

DOI: doi:10.1016/j.ajhg.2013.06.016


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.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
UTAS Author:Mackey, DA (Professor David Mackey)
ID Code:90364
Year Published:2013
Web of Science® Times Cited:108
Deposited By:Menzies Institute for Medical Research
Deposited On:2014-04-01
Last Modified:2017-11-06

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