DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Axial length. The EFO term axial length measurement was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: axial length measurement

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2020-05-06

SPECIES:

AUTHORS:

CY Cheng, M Schache, MK Ikram, TL Young, JA Guggenheim, V Vitart, S MacGregor, VJ 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, PT 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, MK 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, YY Teo, CJ Hammond, D Stambolian, DA Mackey, CC Klaver, TY Wong, SM Saw, PN Baird

TITLE:

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

JOURNAL:

American journal of human genetics Aug 2013, Vol 93, pp. 264-77

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. PUBMED: 24144296
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