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

CY Cheng; M Schache; MK Ikram; TL Young; JA Guggenheim; V Vitart; S MacGregor; VJM Verhoeven; VA Barathi; J Liao; PG Hysi; JE Bailey-Wilson; B St. Pourcain; JP Kemp; G McMahon; NJ Timpson; DM Evans; GW Montgomery; A Mishra; YX Wang; JJ Wang; E Rochtchina; O Polasek; AF Wright; N Amin; EM Van Leeuwen; JF Wilson; CE Pennell; CM Van Duijn; PTVM De Jong; JR Vingerling; X Zhou; P Chen; R Li; WT Tay; Y Zheng; M Chew; KP Burdon; JE Craig; SK Iyengar; RP Igo; JH Lass; EY Chew; T Haller; E Mihailov; A Metspalu; J Wedenoja; CL Simpson; R Wojciechowski; R Höhn; A Mirshahi; T Zeller; N Pfeiffer; KJ Lackner; T Bettecken; T Meitinger; K Oexle; M Pirastu; L Portas; A Nag; KM Williams; E Yonova-Doing; R Klein; BE Klein; SM Hosseini; AD Paterson; KM Makela; T Lehtimaki; M Kahonen; O Raitakari; N Yoshimura; F Matsuda; LJ Chen; CP Pang; SP Yip; MKH Yap; A Meguro; N Mizuki; H Inoko; PJ Foster; JH Zhao; E Vithana; ES Tai; Q Fan; L Xu; H Campbell; B Fleck; I Rudan; T Aung; A Hofman; AG Uitterlinden; G Bencic; CC Khor; H Forward; O Pärssinen; P Mitchell; F Rivadeneira; AW Hewitt; C Williams; BA Oostra

Journal article

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

CY Cheng, M Schache, MK Ikram, TL Young, JA Guggenheim, V Vitart, S MacGregor, VJM Verhoeven, VA Barathi, J Liao, PG Hysi, JE Bailey-Wilson, B St. Pourcain, JP Kemp, G McMahon, NJ Timpson, DM Evans, GW Montgomery, A Mishra, YX Wang Show all

American Journal of Human Genetics | Published : 2013

DOI: 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 e..

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University of Melbourne Researchers

Paul Baird Author

Alicia Jenkins Author

Grants

Awarded by Medical Research Council

Funding Acknowledgements

The authors thank the staff and participants of all studies for their important contributions. Complete funding information and acknowledgements are provided in the Supplemental Data. ALSPAC thanks 23andMe for funding the generation of the ALSPAC GWA data.