- 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
- Creator
- Stambolian, Dwight; Wojciechowski, Robert; Wong, Tien Y.; Simpson, Claire L.; Klaver, Caroline C. W.; van Duijn, Cornelia M.; Verhoeven, Virginie J. M.; Baird, Paul N.; Vitart, Veronique; Paterson, Andrew D.; Mitchell, Paul; Saw, Seang Mei; Oexle, Konrad; Holliday, Elizabeth G.; Attia, John; Scott, Rodney J.; Pirastu, Mario; Li, Xiaohui; Raffel, Leslie J.; Cotch, Mary Frances; Chew, Emily Y.; Klein, Barbara; Klein, Ronald
- Relation
- NHMRC.631096 http://purl.org/au-research/grants/nhmrc/631096
- Relation
- Human Molecular Genetics Vol. 22, Issue 13, p. 2754-2764
- Publisher Link
- http://dx.doi.org/10.1093/hmg/ddt116
- Publisher
- Oxford University Press
- Resource Type
- journal article
- Date
- 2013
- Description
- 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 x 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.
- Subject
- framingham heart study; alternative splicing; chromosomes; genome-wide association studies
- Identifier
- http://hdl.handle.net/1959.13/1339859
- Identifier
- uon:28356
- Identifier
- ISSN:1460-2083
- Language
- eng
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