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Stambolian, D.* ; Wojciechowski, R.* ; Oexle, K.* ; Pirastu, M.* ; Li, X.* ; Raffel, L.J.* ; Cotch, M.F.* ; Chew, E.Y.* ; Klein, B.* ; Klein, R.* ; Wong, T.Y.* ; Simpson, C.L.* ; Klaver, C.C.* ; van Duijn, C.M.* ; Verhoeven, V.J.* ; Baird, P.N.* ; Vitart, V.* ; Paterson, A.D.* ; Mitchell, P.* ; Saw, S.M.* ; Fossarello, M.* ; Kazmierkiewicz, K.* ; Murgia, F.* ; Portas, L.* ; Schache, M.* ; Richardson, A.* ; Xie, J.* ; Wang, J.J.* ; Rochtchina, E.* ; DCCT/EDIC Research Group (*) ; Viswanathan, A.C.* ; Hayward, C.* ; Wright, A.F.* ; Polasek, O.* ; Campbell, H.* ; Rudan, I.* ; Oostra, B.A.* ; Uitterlinden, A.G.* ; Hofman, A.* ; Rivadeneira, F.* ; Amin, N.* ; Karssen, L.C.* ; Vingerling, J.R.* ; Hosseini, S.M.* ; Döring, A. ; Bettecken, T. ; Vatavuk, Z.* ; Gieger, C. ; Wichmann, H.-E. ; Wilson, J.F.* ; Fleck, B.* ; Foster, P.J.* ; Topouzis, F.* ; McGuffin, P.* ; Sim, X.* ; Inouye, M.* ; Holliday, E.G.* ; Attia, J.* ; Scott, R.J.* ; Rotter, J.I.* ; Meitinger, T. ; Bailey-Wilson, J.E.*

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.

Hum. Mol. Genet. 22, 2754-2764 (2013)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
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.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Hepatocyte Growth-factor ; High-grade Myopia ; Beaver Dam Eye ; Familial Aggregation ; Susceptibility Locus ; Ocular Refraction ; Outdoor Activity ; Population ; Heritability ; Children
ISSN (print) / ISBN 0964-6906
e-ISSN 1460-2083
Journal Human Molecular Genetics
Quellenangaben Volume: 22, Issue: 13, Pages: 2754-2764 Article Number: , Supplement: ,
Publisher Oxford University Press
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
Institute of Epidemiology (EPI)
Institute of Epidemiology II (EPI2)
Institute of Genetic Epidemiology (IGE)