TY - JOUR
T1 - 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
AU - DCCT/EDIC Research Group
AU - Stambolian, Dwight
AU - Wojciechowski, Robert
AU - Oexle, Konrad
AU - Pirastu, Mario
AU - Li, Xiaohui
AU - Raffel, Leslie J
AU - Cotch, Mary Frances
AU - Chew, Emily Y
AU - Klein, Barbara
AU - Klein, Ronald
AU - Wong, Tien Y
AU - Simpson, Claire L
AU - Klaver, Caroline C W
AU - van Duijn, Cornelia M
AU - Verhoeven, Virginie J M
AU - Baird, Paul N
AU - Vitart, Veronique
AU - Paterson, Andrew D
AU - Mitchell, Paul
AU - Saw, Seang Mei
AU - Fossarello, Maurizio
AU - Kazmierkiewicz, Krista
AU - Murgia, Federico
AU - Portas, Laura
AU - Schache, Maria
AU - Richardson, Andrea
AU - Xie, Jing
AU - Wang, Jie Jin
AU - Rochtchina, Elena
AU - Viswanathan, Ananth C
AU - Hayward, Caroline
AU - Wright, Alan F
AU - Polasek, Ozren
AU - Campbell, Harry
AU - Rudan, Igor
AU - Oostra, Ben A
AU - Uitterlinden, André G
AU - Hofman, Albert
AU - Rivadeneira, Fernando
AU - Amin, Najaf
AU - Karssen, Lennart C
AU - Vingerling, Johannes R
AU - Hosseini, S M
AU - Döring, Angela
AU - Bettecken, Thomas
AU - Vatavuk, Zoran
AU - Gieger, Christian
AU - Wichmann, H-Erich
AU - Wilson, James F
AU - Fleck, Brian
N1 - Freely available article
PY - 2013/7/1
Y1 - 2013/7/1
N2 - 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.
AB - 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.
U2 - 10.1093/hmg/ddt116
DO - 10.1093/hmg/ddt116
M3 - Article
C2 - 23474815
SN - 1460-2083
VL - 22
SP - 2754
EP - 2764
JO - Human Molecular Genetics
JF - Human Molecular Genetics
IS - 13
ER -