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 (Articolo in rivista)

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Label
  • 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 (Articolo in rivista) (literal)
Anno
  • 2013-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1093/hmg/ddt116 (literal)
Alternative label
  • Dwight Stambolian1,+, Robert Wojciechowski2,3,+, Konrad Oexle5,+, Mario Pirastu6, Xiaohui Li7, Leslie J. Raffel7, Mary Frances Cotch4, Emily Y. Chew4, Barbara Klein8, Ronald Klein8, Tien Y. Wong9,12, Claire L. Simpson3, Caroline C.W. Klaver13, Cornelia M. van Duijn14, Virginie J.M. Verhoeven13, Paul N. Baird15, Veronique Vitart16, Andrew D. Paterson18, Paul Mitchell19, Seang Mei Saw10, Maurizio Fossarello20, Krista Kazmierkiewicz1, Federico Murgia6, Laura Portas6, Maria Schache15, Andrea Richardson15, Jing Xie15, Jie Jin Wang15,19, Elena Rochtchina19, DCCT/EDIC Research Group21, Ananth C. Viswanathan22,23, Caroline Hayward16, Alan F. Wright16, Ozren Pola?ek24, Harry Campbell17, Igor Rudan17, Ben A. Oostra25, André G. Uitterlinden14,26, Albert Hofman14, Fernando Rivadeneira14,26, Najaf Amin14, Lennart C. Karssen14, Johannes R. Vingerling13, S.M. Hosseini18, Angela Döring27, Thomas Bettecken28, Zoran Vatavuk29, Christian Gieger27, H.-Erich Wichmann27, James F. Wilson17, Brian Fleck30, Paul J. Foster22,23, Fotis Topouzis31, Peter McGuffin32, Xueling Sim11, Michael Inouye33, Elizabeth G. Holliday34,35, John Attia34,35, Rodney J. Scott34,35,36,37, Jerome I. Rotter7, Thomas Meitinger5,28 and Joan E. Bailey-Wilson3,* (2013)
    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
    in Human molecular genetics online
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Dwight Stambolian1,+, Robert Wojciechowski2,3,+, Konrad Oexle5,+, Mario Pirastu6, Xiaohui Li7, Leslie J. Raffel7, Mary Frances Cotch4, Emily Y. Chew4, Barbara Klein8, Ronald Klein8, Tien Y. Wong9,12, Claire L. Simpson3, Caroline C.W. Klaver13, Cornelia M. van Duijn14, Virginie J.M. Verhoeven13, Paul N. Baird15, Veronique Vitart16, Andrew D. Paterson18, Paul Mitchell19, Seang Mei Saw10, Maurizio Fossarello20, Krista Kazmierkiewicz1, Federico Murgia6, Laura Portas6, Maria Schache15, Andrea Richardson15, Jing Xie15, Jie Jin Wang15,19, Elena Rochtchina19, DCCT/EDIC Research Group21, Ananth C. Viswanathan22,23, Caroline Hayward16, Alan F. Wright16, Ozren Pola?ek24, Harry Campbell17, Igor Rudan17, Ben A. Oostra25, André G. Uitterlinden14,26, Albert Hofman14, Fernando Rivadeneira14,26, Najaf Amin14, Lennart C. Karssen14, Johannes R. Vingerling13, S.M. Hosseini18, Angela Döring27, Thomas Bettecken28, Zoran Vatavuk29, Christian Gieger27, H.-Erich Wichmann27, James F. Wilson17, Brian Fleck30, Paul J. Foster22,23, Fotis Topouzis31, Peter McGuffin32, Xueling Sim11, Michael Inouye33, Elizabeth G. Holliday34,35, John Attia34,35, Rodney J. Scott34,35,36,37, Jerome I. Rotter7, Thomas Meitinger5,28 and Joan E. Bailey-Wilson3,* (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA, 2Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, 3National Human Genome Research Institute, 4Division of Epidemiology and Clinical Applications, National Eye Institute, National Institutes of Health, Bethesda, MD, USA, 5Institute of Human Genetics, Technische Universität München, Munich, Germany, 6Institute of Population Genetics, National Research Council of Italy, Sassari, Italy, 7Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA, 8Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA, 9Singapore Eye Research Institute, National University of Singapore, Singapore, 10Department of Epidemiology and Public Health, Yong Loo Lin School of Medicine and 11Centre for Molecular Epidemiology, National University of Singapore, Singapore, Singapore, 12Centre for Eye Research Australia, University of Melbourne, Victoria, Australia, 13Department of Ophthalmology and Epidemiology and 14Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands, 15Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia, 16MRC Human Genetics Unit, IGMM and 17Centre for Population Health Sciences, University of Edinburgh, Edinburgh, UK, 18Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada, 19Centre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute, University of Sydney, NSW, Australia, 20Dipartimento di Scienze Chirurgiche, Clinica Oculistica Universita` degli studi di Cagliari, Cagliari, Italy, 21The Biostatistics Center, The George Washington University, Rockville, MD, USA, 22NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and 23UCL Institute of Ophthalmology, London EC1V 2PD, UK, 24Croatian Centre for Global Health, University of Split Medical School, Split, Croatia, 25Department of Clinical Genetics and 26Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands, 27Institute of Epidemiology I and 28Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany, 29Dept of Ophthalmology, Hospital 'Sestre Milosrdnice', Zagreb, Croatia, 30Princess Alexandra Eye Pavilion, Edinburgh, UK, 31Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, AHEPA Hospital, Thessaloniki, Greece, 32MRC Social Genetic and Developmental Psychiatry Research Centre, Institute of Psychiatry, King's College, London, UK, 33Medical Systems Biology, Department of Pathology and Department of Microbiology & Immunology, The University of Melbourne, Parkville, Victoria 3010, Australia, 34School of Medicine and Public Health, University of Newcastle, Newcastle, Australia, 35Hunter Medical Research Institute, Newcastle, Australia, 36The Centre for Information Based Medicine and the School of Biomedical Sciences and Pharmacy University of Newcastle, Newcastle, Australia 37The Division of Genetics, Hunter Area Pathology Service, John Hunter Hospital, Newcastle, Australia (literal)
Titolo
  • 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 (literal)
Abstract
  • 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. (literal)
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