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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.
Hum. Mol. Genet. 22, 2754-2764 (2013)
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.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Hepatocyte Growth-factor ; High-grade Myopia ; Beaver Dam Eye ; Familial Aggregation ; Susceptibility Locus ; Ocular Refraction ; Outdoor Activity ; Population ; Heritability ; Children
ISSN (print) / ISBN 0964-6906
Journal Human Molecular Genetics
Quellenangaben Volume: 22, Issue: 13, Pages: 2754-2764
Publisher Oxford University Press
Reviewing status Peer reviewed