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:

D Stambolian, R Wojciechowski, K Oexle, M Pirastu, X Li, LJ Raffel, MF Cotch, EY Chew, B Klein, R Klein, TY Wong, CL Simpson, CC Klaver, CM van Duijn, VJ Verhoeven, PN Baird, V Vitart, AD Paterson, P Mitchell, SM Saw, M Fossarello, K Kazmierkiewicz, F Murgia, L Portas, M Schache, A Richardson, J Xie, JJ Wang, E Rochtchina, AC Viswanathan, C Hayward, AF Wright, O Polasek, H Campbell, I Rudan, BA Oostra, AG Uitterlinden, A Hofman, F Rivadeneira, N Amin, LC Karssen, JR Vingerling, SM Hosseini, A Döring, T Bettecken, Z Vatavuk, C Gieger, HE Wichmann, JF Wilson, B Fleck, PJ Foster, F Topouzis, P McGuffin, X Sim, M Inouye, EG Holliday, J Attia, RJ Scott, JI Rotter, T Meitinger, JE Bailey-Wilson

TITLE:

Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.

JOURNAL:

Human molecular genetics Jul 2013, Vol 22, pp. 2754-64

ABSTRACT:

Visual refractive errors (REs) are complex genetic traits with a largely unknown etiology. To date, genome-wide association studies (GWASs) of moderate size have identified several novel risk markers for RE, measured here as mean spherical equivalent (MSE). We performed a GWAS using a total of 7280 samples from five cohorts: the Age-Related Eye Disease Study (AREDS); the KORA study ('Cooperative Health Research in the Region of Augsburg'); the Framingham Eye Study (FES); the Ogliastra Genetic Park-Talana (OGP-Talana) Study and the Multiethnic Study of Atherosclerosis (MESA). Genotyping was performed on Illumina and Affymetrix platforms with additional markers imputed to the HapMap II reference panel. We identified a new genome-wide significant locus on chromosome 16 (rs10500355, P = 3.9 × 10(-9)) in a combined discovery and replication set (26 953 samples). This single nucleotide polymorphism (SNP) is located within the RBFOX1 gene which is a neuron-specific splicing factor regulating a wide range of alternative splicing events implicated in neuronal development and maturation, including transcription factors, other splicing factors and synaptic proteins. PUBMED: 23474815
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