PubMed ID:
23474815
Public Release Type:
Journal
Publication Year: 2013
Affiliation: Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA..
DOI:
https://doi.org/10.1093/hmg/ddt116
Authors:
Amin N,
Attia J,
Bailey-Wilson JE,
Baird PN,
Bettecken T,
Campbell H,
Chew EY,
Cotch MF,
DCCT/EDIC Research Group,
Döring A,
Fleck B,
Fossarello M,
Foster PJ,
Gieger C,
Hayward C,
Hofman A,
Holliday EG,
Hosseini SM,
Inouye M,
Karssen LC,
Kazmierkiewicz K,
Klaver CC,
Klein B,
Klein R,
Li X,
McGuffin P,
Meitinger T,
Mitchell P,
Murgia F,
Oexle K,
Oostra BA,
Paterson AD,
Pirastu M,
Polasek O,
Portas L,
Raffel LJ,
Richardson A,
Rivadeneira F,
Rochtchina E,
Rotter JI,
Rudan I,
Saw SM,
Schache M,
Scott RJ,
Simpson CL,
Sim X,
Stambolian D,
Topouzis F,
Uitterlinden AG,
van Duijn CM,
Vatavuk Z,
Verhoeven VJ,
Vingerling JR,
Viswanathan AC,
Vitart V,
Wang JJ,
Wichmann HE,
Wilson JF,
Wojciechowski R,
Wong TY,
Wright AF,
Xie J
Studies:
Diabetes Control and Complications Trial
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.