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 Refractive error. The EFO term Abnormality of refraction 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: Abnormality of refraction

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

VJ Verhoeven, PG Hysi, R Wojciechowski, Q Fan, JA Guggenheim, R Höhn, S MacGregor, AW Hewitt, A Nag, CY Cheng, E Yonova-Doing, X Zhou, MK Ikram, GH Buitendijk, G McMahon, JP Kemp, BS Pourcain, CL Simpson, KM Mäkelä, T Lehtimäki, M Kähönen, AD Paterson, SM Hosseini, HS Wong, L Xu, JB Jonas, O Pärssinen, J Wedenoja, SP Yip, DW Ho, CP Pang, LJ Chen, KP Burdon, JE Craig, BE Klein, R Klein, T Haller, A Metspalu, CC Khor, ES Tai, T Aung, E Vithana, WT Tay, VA Barathi, P Chen, R Li, J Liao, Y Zheng, RT Ong, A Döring, DM Evans, NJ Timpson, AJ Verkerk, T Meitinger, O Raitakari, F Hawthorne, TD Spector, LC Karssen, M Pirastu, F Murgia, W Ang, A Mishra, GW Montgomery, CE Pennell, PM Cumberland, I Cotlarciuc, P Mitchell, JJ Wang, M Schache, S Janmahasatian, S Janmahasathian, RP Igo, JH Lass, E Chew, SK Iyengar, TG Gorgels, I Rudan, C Hayward, AF Wright, O Polasek, Z Vatavuk, JF Wilson, B Fleck, T Zeller, A Mirshahi, C Müller, AG Uitterlinden, F Rivadeneira, JR Vingerling, A Hofman, BA Oostra, N Amin, AA Bergen, YY Teo, JS Rahi, V Vitart, C Williams, PN Baird, TY Wong, K Oexle, N Pfeiffer, DA Mackey, TL Young, CM van Duijn, SM Saw, JE Bailey-Wilson, D Stambolian, CC Klaver, CJ Hammond

TITLE:

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.

JOURNAL:

Nature genetics Mar 2013, Vol 45, pp. 314-8

ABSTRACT:

Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, including 37,382 individuals from 27 studies of European ancestry and 8,376 from 5 Asian cohorts. We identified 16 new loci for refractive error in individuals of European ancestry, of which 8 were shared with Asians. Combined analysis identified 8 additional associated loci. The new loci include candidate genes with functions in neurotransmission (GRIA4), ion transport (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2 and BMP2) and eye development (SIX6 and PRSS56). We also confirmed previously reported associations with GJD2 and RASGRF1. Risk score analysis using associated SNPs showed a tenfold increased risk of myopia for individuals carrying the highest genetic load. Our results, based on a large meta-analysis across independent multiancestry studies, considerably advance understanding of the mechanisms involved in refractive error and myopia. PUBMED: 23396134
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