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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.


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.

SUBMITTER: Stambolian D 

PROVIDER: S-EPMC3674806 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature

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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.

Stambolian Dwight D   Wojciechowski Robert R   Oexle Konrad K   Pirastu Mario M   Li Xiaohui X   Raffel Leslie J LJ   Cotch Mary Frances MF   Chew Emily Y EY   Klein Barbara B   Klein Ronald R   Wong Tien Y TY   Simpson Claire L CL   Klaver Caroline C W CC   van Duijn Cornelia M CM   Verhoeven Virginie J M VJ   Baird Paul N PN   Vitart Veronique V   Paterson Andrew D AD   Mitchell Paul P   Saw Seang Mei SM   Fossarello Maurizio M   Kazmierkiewicz Krista K   Murgia Federico F   Portas Laura L   Schache Maria M   Richardson Andrea A   Xie Jing J   Wang Jie Jin JJ   Rochtchina Elena E   Viswanathan Ananth C AC   Hayward Caroline C   Wright Alan F AF   Polasek Ozren O   Campbell Harry H   Rudan Igor I   Oostra Ben A BA   Uitterlinden André G AG   Hofman Albert A   Rivadeneira Fernando F   Amin Najaf N   Karssen Lennart C LC   Vingerling Johannes R JR   Hosseini S M SM   Döring Angela A   Bettecken Thomas T   Vatavuk Zoran Z   Gieger Christian C   Wichmann H-Erich HE   Wilson James F JF   Fleck Brian B   Foster Paul J PJ   Topouzis Fotis F   McGuffin Peter P   Sim Xueling X   Inouye Michael M   Holliday Elizabeth G EG   Attia John J   Scott Rodney J RJ   Rotter Jerome I JI   Meitinger Thomas T   Bailey-Wilson Joan E JE  

Human molecular genetics 20130307 13


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 Pa  ...[more]

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