Journal
HUMAN MOLECULAR GENETICS
Volume 22, Issue 13, Pages 2754-2764Publisher
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddt116
Keywords
-
Funding
- Intramural Research Program of the National Human Genome Research Institute
- National Eye Institute
- National Institutes of Health
- NIH [RO1EY020483, K08EY022943]
- Helmholtz Center Munich
- German Federal Ministry of Education and Research (BMBF)
- National Heart, Lung and Blood Institute (NHLBI)
- MESA
- NHLBI [N02-HL-6-4278]
- Intramural Research Program of the National Eye Institute [ZIAEY000403]
- National Center for Research Resources [UL1RR033176]
- National Center for Advancing Translational Sciences [UL1TR000124]
- Australian National Health & Medical Research Council (NHMRC) [974159, 991407, 211069, 457349]
- Centre for Clinical Research Excellence (CCRE) in Translational Clinical Research in Eye Diseases, CCRE in TCR-Eye [529923]
- Australian NHMRC project [512423, 475604, 529912, 590204]
- Wellcome Trust, UK, as part of Wellcome Trust Case Control Consortium 2 [085475/B/08/Z, 085475/08/Z]
- NHMRC fellowship scheme [631096, 1028444, 358702, 632909]
- Victorian government
- Italian Ministry of Education, University and Research (MIUR) [5571/DSPAR/2002]
- Italian Ministry of Education, University and Research (FIRB) [718/Ric/2005]
- National Institute of Diabetes, Endocrinology and Metabolic Diseases of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) [N01-DK-6-2204, R01-DK-077510]
- Netherlands Organization of Scientific Research (NWO) [Vidi 91796357]
- Erasmus Medical Center and Erasmus University, Rotterdam, The Netherlands
- Netherlands Organization for Health Research and Development (ZonMw)
- UitZicht
- Research Institute for Diseases in the Elderly
- Ministry of Education, Culture and Science
- Ministry for Health, Welfare and Sports
- European Commission (DG XII)
- Municipality of Rotterdam
- Netherlands Genomics Initiative/NWO
- Center for Medical Systems Biology of NGI
- Lijf en Leven
- M.D. Fonds
- Henkes Stichting
- Stichting Nederlands Oogheelkundig Onderzoek
- Swart van Essen
- Bevordering van Volkskracht
- Blindenhulp
- Landelijke Stichting voor Blinden en Slechtzienden
- Rotterdamse Vereniging voor Blindenbelangen
- OOG
- Algemene Nederlandse Vereniging ter Voorkoming van Blindheid
- Rotterdam Eye Hospital Research Foundation
- Topcon Europe
- Medical Research Council (UK)
- Republic of Croatia Ministry of Science, Education and Sports [108-1080315-0302]
- EU [LSHG-CT-2006-018947]
- Chief Scientist Office of the Scottish Government
- Royal Society
- Medical Research Council Human Genetics Unit
- European Union framework program 6 EURO-SPAN project [LSHG-CT-2006-018947]
- [N01 HC-95159]
- [N01-HC-95160]
- [N01-HC-95161]
- [N01-HC-95162]
- [N01-HC-95163]
- [N01-HC-95164]
- [N01-HC-95165]
- [N01-HC-95166]
- [N01-HC-95167]
- [N01-HC-95168]
- [N01-HC-95169]
- [RR-024156]
- MRC [MC_U127584475, MC_PC_U127561128] Funding Source: UKRI
- Chief Scientist Office [CZB/4/438, CZB/4/710] Funding Source: researchfish
- Medical Research Council [MC_U127584475, G9817803B, MC_PC_U127561128] Funding Source: researchfish
- National Health and Medical Research Council of Australia [632909] Funding Source: NHMRC
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available