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; Wojciechowski, Robert; Oexle, Konrad; Pirastu, Mario; Li, Xiaohui; Raffel, Leslie J; Cotch, Mary Frances; Chew, Emily Y; Klein, Barbara; Klein, Ronald; 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; Fossarello, Maurizio; Kazmierkiewicz, Krista; Murgia, Federico; Portas, Laura; Schache, Maria; Richardson, Andrea; Xie, Jing; Wang, Jie Jin; Rochtchina, Elena; Viswanathan, Ananth C; Hayward, Caroline; Wright, Alan F; Polasek, Ozren; Campbell, Harry; Rudan, Igor; Oostra, Ben A; Uitterlinden, Andre G; Hofman, Albert; Rivadeneira, Fernando; Amin, Najaf; Karssen, Lennart C; Vingerling, Johannes R; Hosseini, S M; Döring, Angela; Bettecken, Thomas; Vatavuk, Zoran; Gieger, Christian; Wichmann, H-Erich; Wilson, James F; Fleck, Brian; Foster, Paul J; Topouzis, Fotis; McGuffin, Peter; Sim, Xueling; Inouye, Michael; Holliday, Elizabeth G; Attia, John; Scott, Rodney J; Rotter, Jerome I; Meitinger, Thomas; Bailey-Wilson, Joan E     «

Stambolian, Dwight; Wojciechowski, Robert; Oexle, Konrad; Pirastu, Mario; Li, Xiaohui; Raffel, Leslie J; Cotch, Mary Frances; Chew, Emily Y; Klein, Barbara; Klein, Ronald; 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; Fossarello, Maurizio; Kazmierkiewicz, Krista; Murgia, Federico; Portas, Laura; Schache, Maria; Richardson, Andrea; Xie, Jing; Wang, Jie Jin...     »

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.     «

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...     »