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    Publication Date: 2016-05-27
    Description: Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals. Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample of 101,069 individuals to 293,723 individuals, and a replication study in an independent sample of 111,349 individuals from the UK Biobank. We identify 74 genome-wide significant loci associated with the number of years of schooling completed. Single-nucleotide polymorphisms associated with educational attainment are disproportionately found in genomic regions regulating gene expression in the fetal brain. Candidate genes are preferentially expressed in neural tissue, especially during the prenatal period, and enriched for biological pathways involved in neural development. Our findings demonstrate that, even for a behavioural phenotype that is mostly environmentally determined, a well-powered GWAS identifies replicable associated genetic variants that suggest biologically relevant pathways. Because educational attainment is measured in large numbers of individuals, it will continue to be useful as a proxy phenotype in efforts to characterize the genetic influences of related phenotypes, including cognition and neuropsychiatric diseases.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Okbay, Aysu -- Beauchamp, Jonathan P -- Fontana, Mark Alan -- Lee, James J -- Pers, Tune H -- Rietveld, Cornelius A -- Turley, Patrick -- Chen, Guo-Bo -- Emilsson, Valur -- Meddens, S Fleur W -- Oskarsson, Sven -- Pickrell, Joseph K -- Thom, Kevin -- Timshel, Pascal -- de Vlaming, Ronald -- Abdellaoui, Abdel -- Ahluwalia, Tarunveer S -- Bacelis, Jonas -- Baumbach, Clemens -- Bjornsdottir, Gyda -- Brandsma, Johannes H -- Pina Concas, Maria -- Derringer, Jaime -- Furlotte, Nicholas A -- Galesloot, Tessel E -- Girotto, Giorgia -- Gupta, Richa -- Hall, Leanne M -- Harris, Sarah E -- Hofer, Edith -- Horikoshi, Momoko -- Huffman, Jennifer E -- Kaasik, Kadri -- Kalafati, Ioanna P -- Karlsson, Robert -- Kong, Augustine -- Lahti, Jari -- van der Lee, Sven J -- deLeeuw, Christiaan -- Lind, Penelope A -- Lindgren, Karl-Oskar -- Liu, Tian -- Mangino, Massimo -- Marten, Jonathan -- Mihailov, Evelin -- Miller, Michael B -- van der Most, Peter J -- Oldmeadow, Christopher -- Payton, Antony -- Pervjakova, Natalia -- Peyrot, Wouter J -- Qian, Yong -- Raitakari, Olli -- Rueedi, Rico -- Salvi, Erika -- Schmidt, Borge -- Schraut, Katharina E -- Shi, Jianxin -- Smith, Albert V -- Poot, Raymond A -- St Pourcain, Beate -- Teumer, Alexander -- Thorleifsson, Gudmar -- Verweij, Niek -- Vuckovic, Dragana -- Wellmann, Juergen -- Westra, Harm-Jan -- Yang, Jingyun -- Zhao, Wei -- Zhu, Zhihong -- Alizadeh, Behrooz Z -- Amin, Najaf -- Bakshi, Andrew -- Baumeister, Sebastian E -- Biino, Ginevra -- Bonnelykke, Klaus -- Boyle, Patricia A -- Campbell, Harry -- Cappuccio, Francesco P -- Davies, Gail -- De Neve, Jan-Emmanuel -- Deloukas, Panos -- Demuth, Ilja -- Ding, Jun -- Eibich, Peter -- Eisele, Lewin -- Eklund, Niina -- Evans, David M -- Faul, Jessica D -- Feitosa, Mary F -- Forstner, Andreas J -- Gandin, Ilaria -- Gunnarsson, Bjarni -- Halldorsson, Bjarni V -- Harris, Tamara B -- Heath, Andrew C -- Hocking, Lynne J -- Holliday, Elizabeth G -- Homuth, Georg -- Horan, Michael A -- Hottenga, Jouke-Jan -- de Jager, Philip L -- Joshi, Peter K -- Jugessur, Astanand -- Kaakinen, Marika A -- Kahonen, Mika -- Kanoni, Stavroula -- Keltigangas-Jarvinen, Liisa -- Kiemeney, Lambertus A L M -- Kolcic, Ivana -- Koskinen, Seppo -- Kraja, Aldi T -- Kroh, Martin -- Kutalik, Zoltan -- Latvala, Antti -- Launer, Lenore J -- Lebreton, Mael P -- Levinson, Douglas F -- Lichtenstein, Paul -- Lichtner, Peter -- Liewald, David C M -- LifeLines Cohort Study -- Loukola, Anu -- Madden, Pamela A -- Magi, Reedik -- Maki-Opas, Tomi -- Marioni, Riccardo E -- Marques-Vidal, Pedro -- Meddens, Gerardus A -- McMahon, George -- Meisinger, Christa -- Meitinger, Thomas -- Milaneschi, Yusplitri -- Milani, Lili -- Montgomery, Grant W -- Myhre, Ronny -- Nelson, Christopher P -- Nyholt, Dale R -- Ollier, William E R -- Palotie, Aarno -- Paternoster, Lavinia -- Pedersen, Nancy L -- Petrovic, Katja E -- Porteous, David J -- Raikkonen, Katri -- Ring, Susan M -- Robino, Antonietta -- Rostapshova, Olga -- Rudan, Igor -- Rustichini, Aldo -- Salomaa, Veikko -- Sanders, Alan R -- Sarin, Antti-Pekka -- Schmidt, Helena -- Scott, Rodney J -- Smith, Blair H -- Smith, Jennifer A -- Staessen, Jan A -- Steinhagen-Thiessen, Elisabeth -- Strauch, Konstantin -- Terracciano, Antonio -- Tobin, Martin D -- Ulivi, Sheila -- Vaccargiu, Simona -- Quaye, Lydia -- van Rooij, Frank J A -- Venturini, Cristina -- Vinkhuyzen, Anna A E -- Volker, Uwe -- Volzke, Henry -- Vonk, Judith M -- Vozzi, Diego -- Waage, Johannes -- Ware, Erin B -- Willemsen, Gonneke -- Attia, John R -- Bennett, David A -- Berger, Klaus -- Bertram, Lars -- Bisgaard, Hans -- Boomsma, Dorret I -- Borecki, Ingrid B -- Bultmann, Ute -- Chabris, Christopher F -- Cucca, Francesco -- Cusi, Daniele -- Deary, Ian J -- Dedoussis, George V -- van Duijn, Cornelia M -- Eriksson, Johan G -- Franke, Barbara -- Franke, Lude -- Gasparini, Paolo -- Gejman, Pablo V -- Gieger, Christian -- Grabe, Hans-Jorgen -- Gratten, Jacob -- Groenen, Patrick J F -- Gudnason, Vilmundur -- van der Harst, Pim -- Hayward, Caroline -- Hinds, David A -- Hoffmann, Wolfgang -- Hypponen, Elina -- Iacono, William G -- Jacobsson, Bo -- Jarvelin, Marjo-Riitta -- Jockel, Karl-Heinz -- Kaprio, Jaakko -- Kardia, Sharon L R -- Lehtimaki, Terho -- Lehrer, Steven F -- Magnusson, Patrik K E -- Martin, Nicholas G -- McGue, Matt -- Metspalu, Andres -- Pendleton, Neil -- Penninx, Brenda W J H -- Perola, Markus -- Pirastu, Nicola -- Pirastu, Mario -- Polasek, Ozren -- Posthuma, Danielle -- Power, Christine -- Province, Michael A -- Samani, Nilesh J -- Schlessinger, David -- Schmidt, Reinhold -- Sorensen, Thorkild I A -- Spector, Tim D -- Stefansson, Kari -- Thorsteinsdottir, Unnur -- Thurik, A Roy -- Timpson, Nicholas J -- Tiemeier, Henning -- Tung, Joyce Y -- Uitterlinden, Andre G -- Vitart, Veronique -- Vollenweider, Peter -- Weir, David R -- Wilson, James F -- Wright, Alan F -- Conley, Dalton C -- Krueger, Robert F -- Davey Smith, George -- Hofman, Albert -- Laibson, David I -- Medland, Sarah E -- Meyer, Michelle N -- Yang, Jian -- Johannesson, Magnus -- Visscher, Peter M -- Esko, Tonu -- Koellinger, Philipp D -- Cesarini, David -- Benjamin, Daniel J -- P01-AG005842/AG/NIA NIH HHS/ -- P01-AG005842-20S2/AG/NIA NIH HHS/ -- P30-AG012810/AG/NIA NIH HHS/ -- R01-AG042568/AG/NIA NIH HHS/ -- T32-AG000186-23/AG/NIA NIH HHS/ -- England -- Nature. 2016 May 11;533(7604):539-42. doi: 10.1038/nature17671.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Applied Economics, Erasmus School of Economics, Erasmus University Rotterdam, Rotterdam, 3062 PA, The Netherlands. ; Department of Epidemiology, Erasmus Medical Center, Rotterdam, 3015 GE, The Netherlands. ; Erasmus University Rotterdam Institute for Behavior and Biology, Rotterdam, 3062 PA, The Netherlands. ; Department of Economics, Harvard University, Cambridge, Massachusetts 02138, USA. ; Center for Economic and Social Research, University of Southern California, Los Angeles, California 90089-3332, USA. ; Department of Psychology, University of Minnesota Twin Cities, Minneapolis, Minnesota 55455, USA. ; Division of Endocrinology and Center for Basic and Translational Obesity Research, Boston Children's Hospital, Boston, Massachusetts 2116, USA. ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA. ; The Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Metabolic Genetics, University of Copenhagen, Faculty of Health and Medical Sciences, Copenhagen 2100, Denmark. ; Statens Serum Institut, Department of Epidemiology Research, Copenhagen 2300, Denmark. ; Queensland Brain Institute, The University of Queensland, Brisbane, QLD 4072, Australia. ; Icelandic Heart Association, Kopavogur 201, Iceland. ; Faculty of Pharmaceutical Sciences, University of Iceland, Reykjavik 107, Iceland. ; Department of Complex Trait Genetics, VU University, Center for Neurogenomics and Cognitive Research, Amsterdam, 1081 HV, The Netherlands. ; Amsterdam Business School, University of Amsterdam, Amsterdam, 1018 TV, The Netherlands. ; Department of Government, Uppsala University, Uppsala 751 20, Sweden. ; New York Genome Center, New York, New York 10013, USA. ; Department of Economics, New York University, New York, New York 10012, USA. ; Center for Biological Sequence Analysis, Department of Systems Biology, Technical University of Denmark Lyngby 2800, Denmark. ; Department of Biological Psychology, VU University Amsterdam, Amsterdam, 1081 BT, The Netherlands. ; COPSAC, Copenhagen Prospective Studies on Asthma in Childhood, Herlev and Gentofte Hospital, University of Copenhagen, Copenhagen 2820, Denmark. ; Steno Diabetes Center, Gentofte 2820, Denmark. ; Department of Obstetrics and Gynecology, Institute of Clinical Sciences, Sahlgrenska Academy, Gothenburg 416 85, Sweden. ; Research Unit of Molecular Epidemiology, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg 85764, Germany. ; Institute of Epidemiology II, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg 85764, Germany. ; deCODE Genetics/Amgen Inc., Reykjavik 101, Iceland. ; Department of Cell Biology, Erasmus Medical Center Rotterdam, 3015 CN, The Netherlands. ; Istituto di Ricerca Genetica e Biomedica U.O.S. di Sassari, National Research Council of Italy, Sassari 07100, Italy. ; Psychology, University of Illinois, Champaign, Illinois 61820, USA. ; 23andMe, Inc., Mountain View, California 94041, USA. ; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, 6500 HB, The Netherlands. ; Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste 34100, Italy. ; Department of Public Health, University of Helsinki, 00014 Helsinki, Finland. ; Department of Cardiovascular Sciences, University of Leicester, Leicester LE3 9QP, UK. ; NIHR Leicester Cardiovascular Biomedical Research Unit, Glenfield Hospital, Leicester LE3 9QP, UK. ; Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh EH8 9JZ, UK. ; Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. ; Department of Neurology, General Hospital and Medical University Graz, Graz 8036, Austria. ; Institute for Medical Informatics, Statistics and Documentation, General Hospital and Medical University Graz, Graz 8036, Austria. ; Oxford Centre for Diabetes, Endocrinology &Metabolism, University of Oxford, Oxford OX3 7LE, UK. ; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK. ; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. ; Institute of Behavioural Sciences, University of Helsinki, 00014 Helsinki, Finland. ; Nutrition and Dietetics, Health Science and Education, Harokopio University, Athens 17671, Greece. ; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 171 77, Sweden. ; Folkhalsan Research Centre, 00014 Helsingfors, Finland. ; Institute for Computing and Information Sciences, Radboud University Nijmegen, Nijmegen, 6525 EC, The Netherlands. ; Quantitative Genetics, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia. ; Lifespan Psychology, Max Planck Institute for Human Development, Berlin 14195, Germany. ; Department of Twin Research and Genetic Epidemiology, King's College London, London SE1 7EH, UK. ; NIHR Biomedical Research Centre, Guy's and St. Thomas' Foundation Trust, London SE1 7EH, UK. ; Estonian Genome Center, University of Tartu, Tartu 51010, Estonia. ; Department of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, 9700 RB, The Netherlands. ; Public Health Stream, Hunter Medical Research Institute, New Lambton, NSW 2305, Australia. ; Faculty of Health and Medicine, University of Newcastle, Newcastle, NSW 2300, Australia. ; Centre for Integrated Genomic Medical Research, Institute of Population Health, The University of Manchester, Manchester M13 9PT, UK. ; Human Communication and Deafness, School of Psychological Sciences, The University of Manchester, Manchester M13 9PL, UK. ; Department of Health, THL-National Institute for Health and Welfare, 00271 Helsinki, Finland. ; Psychiatry, VU University Medical Center &GGZ inGeest, Amsterdam, 1081 HL, The Netherlands. ; Laboratory of Genetics, National Institute on Aging, Baltimore, Maryland 21224, USA. ; Research Centre of Applied and Preventive Cardiovascular Medicine, University of Turku, 20521 Turku, Finland. ; Department of Medical Genetics, University of Lausanne, Lausanne 1005, Switzerland. ; Swiss Institute of Bioinformatics, Lausanne 1015, Switzerland. ; Department Of Health Sciences, University of Milan, Milano 20142, Italy. ; Institute for Medical Informatics, Biometry and Epidemiology, University Hospital of Essen, Essen 45147, Germany. ; Centre for Global Health Research, The Usher Institute for Population Health Sciences and Informatics, University of Edinburgh, Edinburgh EH8 9AG, UK. ; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland 20892-9780, USA. ; Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland. ; MRC Integrative Epidemiology Unit, University of Bristol, Bristol BS8 2BN, UK. ; School of Oral and Dental Sciences, University of Bristol, Bristol BS1 2LY, UK. ; Institute for Community Medicine, University Medicine Greifswald, Greifswald 17475, Germany. ; Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, 9700 RB, The Netherlands. ; Institute of Epidemiology and Social Medicine, University of Munster, Munster 48149, Germany. ; Divisions of Genetics and Rheumatology, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA. ; Partners Center for Personalized Genetic Medicine, Boston, Massachusetts 02115, USA. ; Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, Illinois 60612, USA. ; Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois 60612, USA. ; Department of Epidemiology, University of Michigan, Ann Arbor, Michigan 48109, USA. ; Department of Gastroenterology and Hepatology, University of Groningen, University Medical Center Groningen, Groningen, 9713 GZ, The Netherlands. ; Institute of Epidemiology and Preventive Medicine, University of Regensburg, Regensburg D-93053, Germany. ; Institute of Molecular Genetics, National Research Council of Italy, Pavia 27100, Italy. ; Department of Behavioral Sciences, Rush University Medical Center, Chicago, Illinois 60612, USA. ; Warwick Medical School, University of Warwick, Coventry CV4 7AL, UK. ; Department of Psychology, University of Edinburgh, Edinburgh EH8 9JZ, UK. ; Said Business School, University of Oxford, Oxford OX1 1HP, UK. ; William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK. ; Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders (PACER-HD), King Abdulaziz University, Jeddah 21589, Saudi Arabia. ; The Berlin Aging Study II; Research Group on Geriatrics, Charite - Universitatsmedizin Berlin, Germany, Berlin 13347, Germany. ; Institute of Medical and Human Genetics, Charite-Universitatsmedizin, Berlin, Berlin 13353, Germany. ; German Socio- Economic Panel Study, DIW Berlin, Berlin 10117, Germany. ; Health Economics Research Centre, Nuffield Department of Population Health, University of Oxford, Oxford OX3 7LF, UK. ; The University of Queensland Diamantina Institute, The Translational Research Institute, Brisbane, QLD 4102, Australia. ; Survey Research Center, Institute for Social Research, University of Michigan, Ann Arbor, Michigan 48109, USA. ; Department of Genetics, Division of Statistical Genomics, Washington University School of Medicine, St. Louis, Missouri 63018, USA. ; Institute of Human Genetics, University of Bonn, Bonn 53127, Germany. ; Department of Genomics, Life and Brain Center, University of Bonn, Bonn 53127, Germany. ; Institute of Biomedical and Neural Engineering, School of Science and Engineering, Reykjavik University, Reykjavik 101, Iceland. ; Laboratory of Epidemiology, Demography, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892-9205, USA. ; Department of Psychiatry, Washington University School of Medicine, St. Louis, Missouri 63110, USA. ; Division of Applied Health Sciences, University of Aberdeen, Aberdeen AB25 2ZD, UK. ; Interfaculty Institute for Genetics and Functional Genomics, University Medicine Greifswald, Greifswald 17475, Germany. ; Manchester Medical School, The University of Manchester, Manchester M13 9PT, UK. ; Program in Translational NeuroPsychiatric Genomics, Departments of Neurology &Psychiatry, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA. ; Harvard Medical School, Boston, Massachusetts 02115, USA. ; Department of Genes and Environment, Norwegian Institute of Public Health, N-0403 Oslo, Norway. ; Department of Genomics of Common Disease, Imperial College London, London, W12 0NN, UK. ; Department of Clinical Physiology, Tampere University Hospital, 33521 Tampere, Finland. ; Department of Clinical Physiology, University of Tampere, School of Medicine, 33014 Tampere, Finland. ; Public Health, Medical School, University of Split, 21000 Split, Croatia. ; Institute of Social and Preventive Medicine, Lausanne University Hospital (CHUV), Lausanne 1010, Switzerland. ; Neuroepidemiology Section, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892-9205, USA. ; Amsterdam Brain and Cognition Center, University of Amsterdam, Amsterdam, 1018 XA, The Netherlands. ; Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California 94305-5797, USA. ; Institute of Human Genetics, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg 85764, Germany. ; Medical Genetics Section, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK. ; Department of Internal Medicine, Internal Medicine, Lausanne University Hospital (CHUV), Lausanne 1011, Switzerland. ; Tema BV, Hoofddorp, 2131 HE, The Netherlands. ; Molecular Epidemiology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia. ; Institute of Health and Biomedical Innovation, Queensland Institute of Technology, Brisbane, QLD 4059, Australia. ; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. ; The Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA. ; Psychiatric &Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. ; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki 00014, Finland. ; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. ; Medical Genetics, Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste 34100, Italy. ; Social Impact, Arlington, Virginia 22201, USA. ; Department of Economics, University of Minnesota Twin Cities, Minneapolis, Minnesota 55455, USA. ; Department of Psychiatry and Behavioral Sciences, NorthShore University HealthSystem, Evanston, Illinois 60201-3137, USA. ; Department of Psychiatry and Behavioral Neuroscience, University of Chicago, Chicago, Illinois 60637, USA. ; Public Health Genomics Unit, National Institute for Health and Welfare, 00300 Helsinki, Finland. ; Research Unit for Genetic Epidemiology, Institute of Molecular Biology and Biochemistry, Center of Molecular Medicine, General Hospital and Medical University, Graz, Graz 8010, Austria. ; Information Based Medicine Stream, Hunter Medical Research Institute, New Lambton, NSW 2305, Australia. ; Medical Research Institute, University of Dundee, Dundee DD1 9SY, UK. ; Research Unit Hypertension and Cardiovascular Epidemiology, Department of Cardiovascular Science, University of Leuven, Leuven 3000, Belgium. ; R&D VitaK Group, Maastricht University, Maastricht, 6229 EV, The Netherlands. ; Institute of Genetic Epidemiology, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg 85764, Germany. ; Institute of Medical Informatics, Biometry and Epidemiology, Chair of Genetic Epidemiology, Ludwig Maximilians-Universitat, Munich 81377, Germany. ; Department of Geriatrics, Florida State University College of Medicine, Tallahassee, Florida 32306, USA. ; Department of Health Sciences and Genetics, University of Leicester, Leicester LE1 7RH, UK. ; Department of Internal Medicine, Erasmus Medical Center, Rotterdam, 3015 GE, The Netherlands. ; Research Center for Group Dynamics, Institute for Social Research, University of Michigan, Ann Arbor, Michigan 48104, USA. ; Platform for Genome Analytics, Institutes of Neurogenetics &Integrative and Experimental Genomics, University of Lubeck, Lubeck 23562, Germany. ; Neuroepidemiology and Ageing Research Unit, School of Public Health, Faculty of Medicine, Imperial College of Science, Technology and Medicine, London SW7 2AZ, UK. ; Department of Health Sciences, Community &Occupational Medicine, University of Groningen, University Medical Center Groningen, Groningen, 9713 AV, The Netherlands. ; Department of Psychology, Union College, Schenectady, New York 12308, USA. ; Istituto di Ricerca Genetica e Biomedica (IRGB), Consiglio Nazionale delle Ricerche, c/o Cittadella Universitaria di Monserrato, Monserrato, Cagliari 9042, Italy. ; Institute of Biomedical Technologies, Italian National Research Council, Segrate (Milano) 20090, Italy. ; Department of General Practice and Primary Health Care, University of Helsinki, 00014 Helsinki, Finland. ; Departments of Human Genetics and Psychiatry, Donders Centre for Neuroscience, Nijmegen, 6500 HB, The Netherlands. ; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, 9700 RB, The Netherlands. ; Sidra, Experimental Genetics Division, Sidra, Doha 26999, Qatar. ; Department of Psychiatry and Psychotherapy, University Medicine Greifswald, Greifswald 17475, Germany. ; Department of Psychiatry and Psychotherapy, HELIOS-Hospital Stralsund, Stralsund 18437, Germany. ; Econometric Institute, Erasmus School of Economics, Erasmus University Rotterdam, Rotterdam, 3062 PA, The Netherlands. ; Durrer Center for Cardiogenetic Research, ICIN-Netherlands Heart Institute, Utrecht, 1105 AZ, The Netherlands. ; Generation Scotland, Centre for Genomics and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. ; Centre for Population Health Research, School of Health Sciences and Sansom Institute, University of South Australia, Adelaide, SA 5000, Australia. ; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia. ; Population, Policy and Practice, UCL Institute of Child Health, London WC1N 1EH, UK. ; Department of Epidemiology and Biostatistics, MRC-PHE Centre for Environment &Health, School of Public Health, Imperial College London, London W2 1PG, UK. ; Center for Life Course Epidemiology, Faculty of Medicine, University of Oulu, 90014 Oulu, Finland. ; Unit of Primary Care, Oulu University Hospital, 90029 Oulu, Finland. ; Biocenter Oulu, University of Oulu, 90014 Oulu, Finland. ; Fimlab Laboratories, 33520 Tampere, Finland. ; Department of Clinical Chemistry, University of Tampere, School of Medicine, 33014 Tampere, Finland. ; Economics, NYU Shanghai, 200122 Pudong, China. ; Policy Studies, Queen's University, Kingston, Ontario K7L 3N6, Canada. ; Genetic Epidemiology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia. ; Institute of Molecular and Cell Biology, University of Tartu, Tartu 51010, Estonia. ; Centre for Clinical and Cognitive Neuroscience, Institute Brain Behaviour and Mental Health, Salford Royal Hospital, Manchester M6 8HD, UK. ; Manchester Institute for Collaborative Research in Ageing, University of Manchester, Manchester M13 9PL, UK. ; Faculty of Medicine, University of Split, Split 21000, Croatia. ; Department of Clinical Genetics, VU Medical Centre, Amsterdam, 1081 HV, The Netherlands. ; Institute of Preventive Medicine. Bispebjerg and Frederiksberg Hospitals, The Capital Region, Frederiksberg 2000, Denmark. ; Montpellier Business School, Montpellier 34080, France. ; Panteia, Zoetermeer, 2715 CA, The Netherlands. ; Department of Psychiatry, Erasmus Medical Center, Rotterdam, 3015 GE, The Netherlands. ; Department of Child and Adolescent Psychiatry, Erasmus Medical Center, Rotterdam, 3015 GE, The Netherlands. ; Department of Sociology, New York University, New York, New York 10012, USA. ; School of Medicine, New York University, New York, New York 10016, USA. ; Bioethics Program, Union Graduate College - Icahn School of Medicine at Mount Sinai, Schenectady, New York 12308, USA. ; Department of Economics, Stockholm School of Economics, Stockholm 113 83, Sweden. ; Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA. ; Research Institute for Industrial Economics, Stockholm 10215, Sweden.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/27225129" target="_blank"〉PubMed〈/a〉
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 2
    Publication Date: 2017-09-08
    Description: Author(s): F. Han, J. Xu, A. S. Botana, Z. L. Xiao, Y. L. Wang, W. G. Yang, D. Y. Chung, M. G. Kanatzidis, M. R. Norman, G. W. Crabtree, and W. K. Kwok We report investigations on the magnetotransport in LaSb, which exhibits extremely large magnetoresistance (XMR). Foremost, we demonstrate that the resistivity plateau can be explained without invoking topological protection. We then determine the Fermi surface from Shubnikov–de Haas (SdH) quantum o... [Phys. Rev. B 96, 125112] Published Thu Sep 07, 2017
    Keywords: Electronic structure and strongly correlated systems
    Print ISSN: 1098-0121
    Electronic ISSN: 1095-3795
    Topics: Physics
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  • 3
    Publication Date: 2013-06-01
    Description: A genome-wide association study (GWAS) of educational attainment was conducted in a discovery sample of 101,069 individuals and a replication sample of 25,490. Three independent single-nucleotide polymorphisms (SNPs) are genome-wide significant (rs9320913, rs11584700, rs4851266), and all three replicate. Estimated effects sizes are small (coefficient of determination R(2) approximately 0.02%), approximately 1 month of schooling per allele. A linear polygenic score from all measured SNPs accounts for approximately 2% of the variance in both educational attainment and cognitive function. Genes in the region of the loci have previously been associated with health, cognitive, and central nervous system phenotypes, and bioinformatics analyses suggest the involvement of the anterior caudate nucleus. These findings provide promising candidate SNPs for follow-up work, and our effect size estimates can anchor power analyses in social-science genetics.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751588/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751588/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Rietveld, Cornelius A -- Medland, Sarah E -- Derringer, Jaime -- Yang, Jian -- Esko, Tonu -- Martin, Nicolas W -- Westra, Harm-Jan -- Shakhbazov, Konstantin -- Abdellaoui, Abdel -- Agrawal, Arpana -- Albrecht, Eva -- Alizadeh, Behrooz Z -- Amin, Najaf -- Barnard, John -- Baumeister, Sebastian E -- Benke, Kelly S -- Bielak, Lawrence F -- Boatman, Jeffrey A -- Boyle, Patricia A -- Davies, Gail -- de Leeuw, Christiaan -- Eklund, Niina -- Evans, Daniel S -- Ferhmann, Rudolf -- Fischer, Krista -- Gieger, Christian -- Gjessing, Hakon K -- Hagg, Sara -- Harris, Jennifer R -- Hayward, Caroline -- Holzapfel, Christina -- Ibrahim-Verbaas, Carla A -- Ingelsson, Erik -- Jacobsson, Bo -- Joshi, Peter K -- Jugessur, Astanand -- Kaakinen, Marika -- Kanoni, Stavroula -- Karjalainen, Juha -- Kolcic, Ivana -- Kristiansson, Kati -- Kutalik, Zoltan -- Lahti, Jari -- Lee, Sang H -- Lin, Peng -- Lind, Penelope A -- Liu, Yongmei -- Lohman, Kurt -- Loitfelder, Marisa -- McMahon, George -- Vidal, Pedro Marques -- Meirelles, Osorio -- Milani, Lili -- Myhre, Ronny -- Nuotio, Marja-Liisa -- Oldmeadow, Christopher J -- Petrovic, Katja E -- Peyrot, Wouter J -- Polasek, Ozren -- Quaye, Lydia -- Reinmaa, Eva -- Rice, John P -- Rizzi, Thais S -- Schmidt, Helena -- Schmidt, Reinhold -- Smith, Albert V -- Smith, Jennifer A -- Tanaka, Toshiko -- Terracciano, Antonio -- van der Loos, Matthijs J H M -- Vitart, Veronique -- Volzke, Henry -- Wellmann, Jurgen -- Yu, Lei -- Zhao, Wei -- Allik, Juri -- Attia, John R -- Bandinelli, Stefania -- Bastardot, Francois -- Beauchamp, Jonathan -- Bennett, David A -- Berger, Klaus -- Bierut, Laura J -- Boomsma, Dorret I -- Bultmann, Ute -- Campbell, Harry -- Chabris, Christopher F -- Cherkas, Lynn -- Chung, Mina K -- Cucca, Francesco -- de Andrade, Mariza -- De Jager, Philip L -- De Neve, Jan-Emmanuel -- Deary, Ian J -- Dedoussis, George V -- Deloukas, Panos -- Dimitriou, Maria -- Eiriksdottir, Guethny -- Elderson, Martin F -- Eriksson, Johan G -- Evans, David M -- Faul, Jessica D -- Ferrucci, Luigi -- Garcia, Melissa E -- Gronberg, Henrik -- Guethnason, Vilmundur -- Hall, Per -- Harris, Juliette M -- Harris, Tamara B -- Hastie, Nicholas D -- Heath, Andrew C -- Hernandez, Dena G -- Hoffmann, Wolfgang -- Hofman, Adriaan -- Holle, Rolf -- Holliday, Elizabeth G -- Hottenga, Jouke-Jan -- Iacono, William G -- Illig, Thomas -- Jarvelin, Marjo-Riitta -- Kahonen, Mika -- Kaprio, Jaakko -- Kirkpatrick, Robert M -- Kowgier, Matthew -- Latvala, Antti -- Launer, Lenore J -- Lawlor, Debbie A -- Lehtimaki, Terho -- Li, Jingmei -- Lichtenstein, Paul -- Lichtner, Peter -- Liewald, David C -- Madden, Pamela A -- Magnusson, Patrik K E -- Makinen, Tomi E -- Masala, Marco -- McGue, Matt -- Metspalu, Andres -- Mielck, Andreas -- Miller, Michael B -- Montgomery, Grant W -- Mukherjee, Sutapa -- Nyholt, Dale R -- Oostra, Ben A -- Palmer, Lyle J -- Palotie, Aarno -- Penninx, Brenda W J H -- Perola, Markus -- Peyser, Patricia A -- Preisig, Martin -- Raikkonen, Katri -- Raitakari, Olli T -- Realo, Anu -- Ring, Susan M -- Ripatti, Samuli -- Rivadeneira, Fernando -- Rudan, Igor -- Rustichini, Aldo -- Salomaa, Veikko -- Sarin, Antti-Pekka -- Schlessinger, David -- Scott, Rodney J -- Snieder, Harold -- St Pourcain, Beate -- Starr, John M -- Sul, Jae Hoon -- Surakka, Ida -- Svento, Rauli -- Teumer, Alexander -- LifeLines Cohort Study -- Tiemeier, Henning -- van Rooij, Frank J A -- Van Wagoner, David R -- Vartiainen, Erkki -- Viikari, Jorma -- Vollenweider, Peter -- Vonk, Judith M -- Waeber, Gerard -- Weir, David R -- Wichmann, H-Erich -- Widen, Elisabeth -- Willemsen, Gonneke -- Wilson, James F -- Wright, Alan F -- Conley, Dalton -- Davey-Smith, George -- Franke, Lude -- Groenen, Patrick J F -- Hofman, Albert -- Johannesson, Magnus -- Kardia, Sharon L R -- Krueger, Robert F -- Laibson, David -- Martin, Nicholas G -- Meyer, Michelle N -- Posthuma, Danielle -- Thurik, A Roy -- Timpson, Nicholas J -- Uitterlinden, Andre G -- van Duijn, Cornelia M -- Visscher, Peter M -- Benjamin, Daniel J -- Cesarini, David -- Koellinger, Philipp D -- AA09367/AA/NIAAA NIH HHS/ -- AA11886/AA/NIAAA NIH HHS/ -- BB/F019394/1/Biotechnology and Biological Sciences Research Council/United Kingdom -- CZB/4/710/Chief Scientist Office/United Kingdom -- DA024417/DA/NIDA NIH HHS/ -- DA029377/DA/NIDA NIH HHS/ -- DA05147/DA/NIDA NIH HHS/ -- DA13240/DA/NIDA NIH HHS/ -- ETM/55/Chief Scientist Office/United Kingdom -- F31 DA029377/DA/NIDA NIH HHS/ -- G0600705/Medical Research Council/United Kingdom -- G0700704/Medical Research Council/United Kingdom -- G9815508/Medical Research Council/United Kingdom -- K05 AA017688/AA/NIAAA NIH HHS/ -- MC_PC_U127561128/Medical Research Council/United Kingdom -- MC_UU_12013/1/Medical Research Council/United Kingdom -- MC_UU_12013/3/Medical Research Council/United Kingdom -- MC_UU_12013/5/Medical Research Council/United Kingdom -- MH016880/MH/NIMH NIH HHS/ -- MH066140/MH/NIMH NIH HHS/ -- MR/K026992/1/Medical Research Council/United Kingdom -- P01 AG005842/AG/NIA NIH HHS/ -- P01 CA089392/CA/NCI NIH HHS/ -- P01 GM099568/GM/NIGMS NIH HHS/ -- P01-AG005842/AG/NIA NIH HHS/ -- P01-AG005842-20S2/AG/NIA NIH HHS/ -- P30 AG012810/AG/NIA NIH HHS/ -- P30-AG012810/AG/NIA NIH HHS/ -- R01 AA009367/AA/NIAAA NIH HHS/ -- R01 AA011886/AA/NIAAA NIH HHS/ -- R01 DA013240/DA/NIDA NIH HHS/ -- R01 HL090620/HL/NHLBI NIH HHS/ -- R01 HL105756/HL/NHLBI NIH HHS/ -- R01 HL111314/HL/NHLBI NIH HHS/ -- R01 MH066140/MH/NIMH NIH HHS/ -- R37 DA005147/DA/NIDA NIH HHS/ -- T32 AG000186/AG/NIA NIH HHS/ -- T32 MH016880/MH/NIMH NIH HHS/ -- T32-AG000186-23/AG/NIA NIH HHS/ -- U01 AG009740/AG/NIA NIH HHS/ -- U01 DA024417/DA/NIDA NIH HHS/ -- Z01 AG001050-01/Intramural NIH HHS/ -- ZIA AG000196-03/Intramural NIH HHS/ -- ZIA AG000196-04/Intramural NIH HHS/ -- New York, N.Y. -- Science. 2013 Jun 21;340(6139):1467-71. doi: 10.1126/science.1235488. Epub 2013 May 30.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Applied Economics, Erasmus School of Economics, Erasmus University Rotterdam, Rotterdam, Netherlands.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/23722424" target="_blank"〉PubMed〈/a〉
    Keywords: Cognition ; *Educational Status ; Endophenotypes ; Female ; Genetic Loci ; *Genome-Wide Association Study ; Humans ; Male ; Multifactorial Inheritance ; *Polymorphism, Single Nucleotide
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 4
    Publication Date: 1968-07-01
    Print ISSN: 0028-1042
    Electronic ISSN: 1432-1904
    Topics: Biology , Chemistry and Pharmacology , Natural Sciences in General
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  • 5
    Publication Date: 2012-09-18
    Description: There is evidence across several species for genetic control of phenotypic variation of complex traits, such that the variance among phenotypes is genotype dependent. Understanding genetic control of variability is important in evolutionary biology, agricultural selection programmes and human medicine, yet for complex traits, no individual genetic variants associated with variance, as opposed to the mean, have been identified. Here we perform a meta-analysis of genome-wide association studies of phenotypic variation using approximately 170,000 samples on height and body mass index (BMI) in human populations. We report evidence that the single nucleotide polymorphism (SNP) rs7202116 at the FTO gene locus, which is known to be associated with obesity (as measured by mean BMI for each rs7202116 genotype), is also associated with phenotypic variability. We show that the results are not due to scale effects or other artefacts, and find no other experiment-wise significant evidence for effects on variability, either at loci other than FTO for BMI or at any locus for height. The difference in variance for BMI among individuals with opposite homozygous genotypes at the FTO locus is approximately 7%, corresponding to a difference of approximately 0.5 kilograms in the standard deviation of weight. Our results indicate that genetic variants can be discovered that are associated with variability, and that between-person variability in obesity can partly be explained by the genotype at the FTO locus. The results are consistent with reported FTO by environment interactions for BMI, possibly mediated by DNA methylation. Our BMI results for other SNPs and our height results for all SNPs suggest that most genetic variants, including those that influence mean height or mean BMI, are not associated with phenotypic variance, or that their effects on variability are too small to detect even with samples sizes greater than 100,000.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3564953/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3564953/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Yang, Jian -- Loos, Ruth J F -- Powell, Joseph E -- Medland, Sarah E -- Speliotes, Elizabeth K -- Chasman, Daniel I -- Rose, Lynda M -- Thorleifsson, Gudmar -- Steinthorsdottir, Valgerdur -- Magi, Reedik -- Waite, Lindsay -- Smith, Albert Vernon -- Yerges-Armstrong, Laura M -- Monda, Keri L -- Hadley, David -- Mahajan, Anubha -- Li, Guo -- Kapur, Karen -- Vitart, Veronique -- Huffman, Jennifer E -- Wang, Sophie R -- Palmer, Cameron -- Esko, Tonu -- Fischer, Krista -- Zhao, Jing Hua -- Demirkan, Ayse -- Isaacs, Aaron -- Feitosa, Mary F -- Luan, Jian'an -- Heard-Costa, Nancy L -- White, Charles -- Jackson, Anne U -- Preuss, Michael -- Ziegler, Andreas -- Eriksson, Joel -- Kutalik, Zoltan -- Frau, Francesca -- Nolte, Ilja M -- Van Vliet-Ostaptchouk, Jana V -- Hottenga, Jouke-Jan -- Jacobs, Kevin B -- Verweij, Niek -- Goel, Anuj -- Medina-Gomez, Carolina -- Estrada, Karol -- Bragg-Gresham, Jennifer Lynn -- Sanna, Serena -- Sidore, Carlo -- Tyrer, Jonathan -- Teumer, Alexander -- Prokopenko, Inga -- Mangino, Massimo -- Lindgren, Cecilia M -- Assimes, Themistocles L -- Shuldiner, Alan R -- Hui, Jennie -- Beilby, John P -- McArdle, Wendy L -- Hall, Per -- Haritunians, Talin -- Zgaga, Lina -- Kolcic, Ivana -- Polasek, Ozren -- Zemunik, Tatijana -- Oostra, Ben A -- Junttila, M Juhani -- Gronberg, Henrik -- Schreiber, Stefan -- Peters, Annette -- Hicks, Andrew A -- Stephens, Jonathan -- Foad, Nicola S -- Laitinen, Jaana -- Pouta, Anneli -- Kaakinen, Marika -- Willemsen, Gonneke -- Vink, Jacqueline M -- Wild, Sarah H -- Navis, Gerjan -- Asselbergs, Folkert W -- Homuth, Georg -- John, Ulrich -- Iribarren, Carlos -- Harris, Tamara -- Launer, Lenore -- Gudnason, Vilmundur -- O'Connell, Jeffrey R -- Boerwinkle, Eric -- Cadby, Gemma -- Palmer, Lyle J -- James, Alan L -- Musk, Arthur W -- Ingelsson, Erik -- Psaty, Bruce M -- Beckmann, Jacques S -- Waeber, Gerard -- Vollenweider, Peter -- Hayward, Caroline -- Wright, Alan F -- Rudan, Igor -- Groop, Leif C -- Metspalu, Andres -- Khaw, Kay Tee -- van Duijn, Cornelia M -- Borecki, Ingrid B -- Province, Michael A -- Wareham, Nicholas J -- Tardif, Jean-Claude -- Huikuri, Heikki V -- Cupples, L Adrienne -- Atwood, Larry D -- Fox, Caroline S -- Boehnke, Michael -- Collins, Francis S -- Mohlke, Karen L -- Erdmann, Jeanette -- Schunkert, Heribert -- Hengstenberg, Christian -- Stark, Klaus -- Lorentzon, Mattias -- Ohlsson, Claes -- Cusi, Daniele -- Staessen, Jan A -- Van der Klauw, Melanie M -- Pramstaller, Peter P -- Kathiresan, Sekar -- Jolley, Jennifer D -- Ripatti, Samuli -- Jarvelin, Marjo-Riitta -- de Geus, Eco J C -- Boomsma, Dorret I -- Penninx, Brenda -- Wilson, James F -- Campbell, Harry -- Chanock, Stephen J -- van der Harst, Pim -- Hamsten, Anders -- Watkins, Hugh -- Hofman, Albert -- Witteman, Jacqueline C -- Zillikens, M Carola -- Uitterlinden, Andre G -- Rivadeneira, Fernando -- Kiemeney, Lambertus A -- Vermeulen, Sita H -- Abecasis, Goncalo R -- Schlessinger, David -- Schipf, Sabine -- Stumvoll, Michael -- Tonjes, Anke -- Spector, Tim D -- North, Kari E -- Lettre, Guillaume -- McCarthy, Mark I -- Berndt, Sonja I -- Heath, Andrew C -- Madden, Pamela A F -- Nyholt, Dale R -- Montgomery, Grant W -- Martin, Nicholas G -- McKnight, Barbara -- Strachan, David P -- Hill, William G -- Snieder, Harold -- Ridker, Paul M -- Thorsteinsdottir, Unnur -- Stefansson, Kari -- Frayling, Timothy M -- Hirschhorn, Joel N -- Goddard, Michael E -- Visscher, Peter M -- 090532/Wellcome Trust/United Kingdom -- 14136/Cancer Research UK/United Kingdom -- AA014041/AA/NIAAA NIH HHS/ -- AA07535/AA/NIAAA NIH HHS/ -- AA10248/AA/NIAAA NIH HHS/ -- AA13320/AA/NIAAA NIH HHS/ -- AA13321/AA/NIAAA NIH HHS/ -- AA13326/AA/NIAAA NIH HHS/ -- CZB/4/710/Chief Scientist Office/United Kingdom -- DA12854/DA/NIDA NIH HHS/ -- F32 AR059469/AR/NIAMS NIH HHS/ -- F32 DK079466/DK/NIDDK NIH HHS/ -- G0601261/Medical Research Council/United Kingdom -- G1000143/Medical Research Council/United Kingdom -- GM057091/GM/NIGMS NIH HHS/ -- HHSN268201100005C/HL/NHLBI NIH HHS/ -- HHSN268201100006C/HL/NHLBI NIH HHS/ -- HHSN268201100007C/HL/NHLBI NIH HHS/ -- HHSN268201100008C/HL/NHLBI NIH HHS/ -- HHSN268201100009C/HL/NHLBI NIH HHS/ -- HHSN268201100010C/HL/NHLBI NIH HHS/ -- HHSN268201100011C/HL/NHLBI NIH HHS/ -- HHSN268201100012C/HL/NHLBI NIH HHS/ -- K05 AA017688/AA/NIAAA NIH HHS/ -- K23 DK080145/DK/NIDDK NIH HHS/ -- MC_PC_U127561128/Medical Research Council/United Kingdom -- MC_U106179471/Medical Research Council/United Kingdom -- MC_U127561128/Medical Research Council/United Kingdom -- N01 AG012100/AG/NIA NIH HHS/ -- N01 HC015103/HC/NHLBI NIH HHS/ -- N01 HC025195/HC/NHLBI NIH HHS/ -- N01 HC035129/HC/NHLBI NIH HHS/ -- N01 HC045133/HC/NHLBI NIH HHS/ -- N01 HC055222/HC/NHLBI NIH HHS/ -- N01 HC075150/HC/NHLBI NIH HHS/ -- N01 HC085079/HC/NHLBI NIH HHS/ -- N01 HG065403/HG/NHGRI NIH HHS/ -- N01HC85086/HL/NHLBI NIH HHS/ -- N02 HL64278/HL/NHLBI NIH HHS/ -- P30 DK063491/DK/NIDDK NIH HHS/ -- P30 DK072488/DK/NIDDK NIH HHS/ -- R01 AA007535/AA/NIAAA NIH HHS/ -- R01 AA013320/AA/NIAAA NIH HHS/ -- R01 AA013321/AA/NIAAA NIH HHS/ -- R01 AA013326/AA/NIAAA NIH HHS/ -- R01 AA014041/AA/NIAAA NIH HHS/ -- R01 AG015928/AG/NIA NIH HHS/ -- R01 AG020098/AG/NIA NIH HHS/ -- R01 AG023629/AG/NIA NIH HHS/ -- R01 AG027058/AG/NIA NIH HHS/ -- R01 DA012854/DA/NIDA NIH HHS/ -- R01 DK062370/DK/NIDDK NIH HHS/ -- R01 DK072193/DK/NIDDK NIH HHS/ -- R01 DK073490/DK/NIDDK NIH HHS/ -- R01 DK075681/DK/NIDDK NIH HHS/ -- R01 DK075787/DK/NIDDK NIH HHS/ -- R01 HG002651/HG/NHGRI NIH HHS/ -- R01 HL043851/HL/NHLBI NIH HHS/ -- R01 HL059367/HL/NHLBI NIH HHS/ -- R01 HL075366/HL/NHLBI NIH HHS/ -- R01 HL080295/HL/NHLBI NIH HHS/ -- R01 HL086694/HL/NHLBI NIH HHS/ -- R01 HL087641/HL/NHLBI NIH HHS/ -- R01 HL087647/HL/NHLBI NIH HHS/ -- R01 HL087652/HL/NHLBI NIH HHS/ -- R01 HL087676/HL/NHLBI NIH HHS/ -- R01 HL087679/HL/NHLBI NIH HHS/ -- R01 HL105756/HL/NHLBI NIH HHS/ -- R01 LM010098/LM/NLM NIH HHS/ -- R01 MH063706/MH/NIMH NIH HHS/ -- RL1 MH083268/MH/NIMH NIH HHS/ -- U01 DK062418/DK/NIDDK NIH HHS/ -- U01 HG004402/HG/NHGRI NIH HHS/ -- U01 HL054527/HL/NHLBI NIH HHS/ -- U01 HL069757/HL/NHLBI NIH HHS/ -- U01 HL072515/HL/NHLBI NIH HHS/ -- U01 HL084729/HL/NHLBI NIH HHS/ -- U01 HL084756/HL/NHLBI NIH HHS/ -- U54 RR020278/RR/NCRR NIH HHS/ -- UL1 RR033176/RR/NCRR NIH HHS/ -- Z01 HG000024-14/Intramural NIH HHS/ -- England -- Nature. 2012 Oct 11;490(7419):267-72. doi: 10.1038/nature11401. Epub 2012 Sep 16.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉University of Queensland Diamantina Institute, The University of Queensland, Princess Alexandra Hospital, Brisbane, Queensland 4102, Australia.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/22982992" target="_blank"〉PubMed〈/a〉
    Keywords: Body Height/genetics ; *Body Mass Index ; Co-Repressor Proteins ; Female ; *Genetic Variation ; Genome-Wide Association Study ; Humans ; Male ; Nerve Tissue Proteins/genetics ; *Phenotype ; Polymorphism, Single Nucleotide ; Proteins/*genetics ; Repressor Proteins/genetics
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 6
    Publication Date: 1971-08-01
    Print ISSN: 0028-1042
    Electronic ISSN: 1432-1904
    Topics: Biology , Chemistry and Pharmacology , Natural Sciences in General
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  • 7
    Publication Date: 2013-04-03
    Description: Facilitated pyruvate transport across the mitochondrial inner membrane is a critical step in carbohydrate, amino acid, and lipid metabolism. We report that clinically relevant concentrations of thiazolidinediones (TZDs), a widely used class of insulin sensitizers, acutely and specifically inhibit mitochondrial pyruvate carrier (MPC) activity in a variety of cell types....
    Print ISSN: 0027-8424
    Electronic ISSN: 1091-6490
    Topics: Biology , Medicine , Natural Sciences in General
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  • 8
    Publication Date: 2011-12-07
    Description: Deep sequencing was used to bring high resolution to the human cytomegalovirus (HCMV) transcriptome at the stage when infectious virion production is under way, and major findings were confirmed by extensive experimentation using conventional techniques. The majority (65.1%) of polyadenylated viral RNA transcription is committed to producing four noncoding transcripts (RNA2.7, RNA1.2, RNA4.9, and RNA5.0) that do not substantially overlap designated protein-coding regions. Additional noncoding RNAs that are transcribed antisense to protein-coding regions map throughout the genome and account for 8.7% of transcription from these regions. RNA splicing is more common than recognized previously, which was evidenced by the identification of 229 potential donor and 132 acceptor sites, and it affects 58 protein-coding genes. The great majority (94) of 96 splice junctions most abundantly represented in the deep-sequencing data was confirmed by RT-PCR or RACE or supported by involvement in alternative splicing. Alternative splicing is frequent and particularly evident in four genes (RL8A, UL74A, UL124, and UL150A) that are transcribed by splicing from any one of many upstream exons. The analysis also resulted in the annotation of four previously unrecognized protein-coding regions (RL8A, RL9A, UL150A, and US33A), and expression of the UL150A protein was shown in the context of HCMV infection. The overall conclusion, that HCMV transcription is complex and multifaceted, has implications for the potential sophistication of virus functionality during infection. The study also illustrates the key contribution that deep sequencing can make to the genomics of nuclear DNA viruses.
    Print ISSN: 0027-8424
    Electronic ISSN: 1091-6490
    Topics: Biology , Medicine , Natural Sciences in General
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  • 9
    Publication Date: 2011-01-05
    Description: Mutations in LMNA, which encodes A-type lamins, result in disparate diseases, known collectively as laminopathies, that affect distinct tissues, including striated muscle and adipose tissue. Lamins provide structural support for the nucleus and sites of attachment for chromatin, and defects in these functions may contribute to disease pathogenesis. Recent studies suggest that A-type lamins may facilitate connections between the nucleus and the cytoskeleton mediated by nuclear envelope nesprin and SUN proteins. In mammalian cells, however, interfering with A-type lamins does not affect the localization of these proteins. Here, we used centrosome orientation in fibroblasts, which requires separate nuclear and centrosome positioning pathways, as a model system to understand how LMNA mutations affect nucleus-cytoskeletal connections. We find that LMNA mutations causing striated muscle diseases block actin-dependent nuclear movement, whereas most that affect adipose tissue inhibit microtubule-dependent centrosome positioning. Genetic deletion or transient depletion of A-type lamins also blocked nuclear movement, showing that mutations affecting muscle exhibit the null phenotype. Lack of A-type lamins, or expression of variants that cause striated muscle disease, did not affect assembly of nesprin-2G and SUN2 into transmembrane actin-associated nuclear (TAN) lines that attach the nucleus to retrogradely moving actin cables. Nesprin-2G TAN lines were less stable, however, and slipped over the nucleus rather than moving with it, indicating that they were not anchored. Nesprin-2G TAN lines also slipped in SUN2-depleted cells. Our results establish A-type lamins as anchors for nesprin-2G–SUN2 TAN lines to allow productive movement and proper positioning of the nucleus by actin.
    Print ISSN: 0027-8424
    Electronic ISSN: 1091-6490
    Topics: Biology , Medicine , Natural Sciences in General
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  • 10
    Publication Date: 1928-07-01
    Print ISSN: 0002-7820
    Electronic ISSN: 1551-2916
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics , Physics
    Published by Wiley on behalf of American Ceramic Society.
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