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Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease
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Holstege, Henne (Delft Bioinformatics Lab, Delft University of Technology) ;
Hulsman, Marc (Delft Bioinformatics Lab, Delft University of Technology) ;
Charbonnier, Camille (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ;
Grenier-Boley, Benjamin (Université Lille, INSERM, Centre Hospitalier Universitaire Lille, Institut Pasteur de Lille, U1167-RID-AGE facteurs de risque et déterminants moléculaires des maladies liées au vieillissement) ;
Quenez, Olivier (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ;
Grozeva, Detelina (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics,, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ;
van Rooij, Jeroen G. J. (Erasmus Medical Centre. Department of Internal Medicine) ;
Sims, Rebecca (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics,, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ;
Ahmad, Shahzad (Leiden Academic Centre for Drug Research) ;
Amin, Najaf (Nuffield Department of Population Health Oxford University) ;
Norsworthy, Penny J. (Medical Research Council Prion Unit at University College London, University College London Institute of Prion Diseases) ;
Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ;
Hummerich, Holger (Medical Research Council Prion Unit at University College London, University College London Institute of Prion Diseases) ;
Kawalia, Amit (Faculty of Medicine and University Hospital Cologne, University of Cologne. Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy) ;
Amouyel, Philippe (Université Lille, INSERM, Centre Hospitalier Universitaire Lille, Institut Pasteur de Lille, U1167-RID-AGE facteurs de risque et déterminants moléculaires des maladies liées au vieillissement) ;
Beecham, Gary W. (The John P. Hussman Institute for Human Genomics, University of Miami) ;
Berr, Claudine (Université Montpellier, INSERM, Institute for Neurosciences of Montpellier) ;
Bis, Joshua C. (University of Washington. Cardiovascular Health Research Unit, Department of Medicine) ;
Boland, Anne (Université Paris-Saclay. Centre National de Recherche en Génomique Humaine) ;
Bossù, Paola (Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia Foundation. Experimental Neuro-psychobiology Laboratory, Department of Clinical and Behavioral Neurology) ;
Bouwman, Femke (Amsterdam Neuroscience, Neurodegeneration) ;
Bras, Jose (Michigan State University College of Human Medicine. Division of Psychiatry and Behavioral Medicine) ;
Campion, Dominique (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ;
Cochran, J. Nicholas (HudsonAlpha Institute for Biotechnology) ;
Daniele, Antonio (Catholic University of Sacred Heart, Fondazione Policlinico Universitario A. Gemelli Istituto di Ricovero e Cura a Carattere Scientifico. Department of Neuroscience) ;
Dartigues, Jean-François (Université Bordeaux, INSERM, Bordeaux Population Health Research Center) ;
Debette, Stéphanie (Bordeaux University Hospital. Department of Neurology) ;
Deleuze, Jean-François (Université Paris-Saclay. Centre National de Recherche en Génomique Humaine) ;
Denning, Nicola (Cardiff University. UKDRI Cardiff, School of Medicine) ;
DeStefano, Anita L. (Boston University School of Medicine. Department of Neurology) ;
Farrer, Lindsay A. (Boston University. Department of Medicine (Biomedical Genetics)) ;
Fernández, Maria Victoria (Washington University School of Medicine. Hope Center for Neurological Disorders) ;
Fox, Nick C. (University College London Queen Square Institute of Neurology. Dementia Research Centre) ;
Galimberti, Daniela (University of Milan) ;
Genin, Emmanuelle (Université Brest, INSERM, Etablissement Français du Sang, Centre Hospitalier Universitaire Brest, Unité Mixte de Recherche 1078, GGB, Brest, France) ;
Gille, Johan J. P. (VU University, AmsterdamUMC (location VUmc). Genome Diagnostics, Department of Human Genetics) ;
Le Guen, Yann (Stanford University. Department of Neurology and Neurological Sciences) ;
Guerreiro, Rita (Michigan State University College of Human Medicine. Division of Psychiatry and Behavioral Medicine) ;
Haines, Jonathan L. (Case Western Reserve University. Department of Epidemiology and Biostatistics) ;
Holmes, Clive (University of Southampton. Clinical and Experimental Science, Faculty of Medicine) ;
Ikram, M. Arfan (Erasmus Medical Centre. Department of Epidemiology) ;
Ikram, M. Kamran (Erasmus Medical Centre. Department of Epidemiology) ;
Jansen, Iris E. (Vrije University. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience) ;
Kraaij, Robert (Erasmus Medical Centre. Department of Internal Medicine) ;
Lathrop, Marc (McGill University and Genome Quebec Innovation Centre) ;
Lemstra, Afina W. (Amsterdam Neuroscience, Neurodegeneration) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Luckcuck, Lauren (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics) ;
Mannens, Marcel M. A. M. (University of Amsterdam, Amsterdam Reproduction and Development Research Institute. Department of Human Genetics, Amsterdam UMC) ;
Marshall, Rachel (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics,, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ;
Martin, Eden R. (University of Miami. Dr. John T. Macdonald Foundation Department of Human Genetics) ;
Masullo, Carlo (Institute of Neurology, Catholic University of the Sacred Heart) ;
Mayeux, Richard (Columbia University. Gertrude H. Sergievsky Center) ;
Mecocci, Patrizia (University of Perugia. Institute of Gerontology and Geriatrics, Department of Medicine and Surgery) ;
Meggy, Alun (Cardiff University. UKDRI Cardiff, School of Medicine) ;
Mol, Merel O. (Erasmus Medical Centre. Department of Neurology) ;
Morgan, Kevin (University of Nottingham. Human Genetics, School of Life Sciences) ;
Myers, Richard M. (HudsonAlpha Institute for Biotechnology) ;
Nacmias, Benedetta (IRCCS Fondazione Don Carlo Gnocchi) ;
Naj, Adam C. (University of Pennsylvania Perelman School of Medicine. Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine) ;
Napolioni, Valerio (Genomic and Molecular Epidemiology Laboratory, School of Biosciences and Veterinary Medicine, University of Camerino) ;
Pasquier, Florence (Université Lille, INSERM, Centre Hospitalier Universitaire Lille, UMR1172, Resources and Research Memory Center (MRRC) of Distalz, Licend) ;
Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Pericak-Vance, Margaret A. (University of Miami. Dr. John T. Macdonald Foundation Department of Human Genetics) ;
Raybould, Rachel (Cardiff University. UKDRI Cardiff, School of Medicine) ;
Redon, Richard (Université de Nantes, Centre Hospitalier Universitaire Nantes, Centre National de la Recherche Scientifique, INSERM, l'institut du Thorax) ;
Reinders, Marcel J. T. (Delft Bioinformatics Lab, Delft University of Technology) ;
Richard, Anne-Claire (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ;
Riedel-Heller, Steffi G. (Institute of Social Medicine, Occupational Health and Public Health, University of Leipzig) ;
Rivadeneira, Fernando (Erasmus Medical Centre. Department of Internal Medicine) ;
Rousseau, Stéphane (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ;
Ryan, Natalie S. (University College London Queen Square Institute of Neurology. Dementia Research Centre) ;
Saad, Salha (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics,, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ;
Sánchez-Juan, Pascual (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Schellenberg, Gerard D. (University of Pennsylvania Perelman School of Medicine. Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine) ;
Scheltens, Philip (Amsterdam Neuroscience, Neurodegeneration) ;
Schott, Jonathan M. (University College London Queen Square Institute of Neurology. Dementia Research Centre) ;
Seripa, Davide (Laboratory for Advanced Hematological Diagnostics, Department of Hematology and Stem Cell Transplant, Lecce, Italy) ;
Seshadri, Sudha (Department of Psychiatry and Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, San Antonio, TX USA) ;
Sie, Daoud (VU University, AmsterdamUMC (location VUmc). Genome Diagnostics, Department of Human Genetics) ;
Sistermans, Erik A. (VU University, AmsterdamUMC (location VUmc). Genome Diagnostics, Department of Human Genetics) ;
Sorbi, Sandro (IRCCS Fondazione Don Carlo Gnocchi) ;
van Spaendonk, Resie (VU University, AmsterdamUMC (location VUmc). Genome Diagnostics, Department of Human Genetics) ;
Spalletta, Gianfranco (Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia Foundation. Laboratory of Neuropsychiatry, Department of Clinical and Behavioral Neurology) ;
Tesi, Niccolo (Delft Bioinformatics Lab, Delft University of Technology) ;
Tijms, Betty (Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc. Alzheimer Center Amsterdam, Neurology) ;
Uitterlinden, André G. (Erasmus Medical Centre. Department of Internal Medicine) ;
van der Lee, Sven J. (Delft Bioinformatics Lab, Delft University of Technology) ;
Visser, Pieter Jelle (Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc. Alzheimer Center Amsterdam, Neurology) ;
Wagner, Michael (German Center for Neurodegenerative Diseases) ;
Wallon, David (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Neurology and CNRMAJ) ;
Wang, Li-San (University of Pennsylvania Perelman School of Medicine. Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine) ;
Zarea, Aline (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Neurology and CNRMAJ) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
van Swieten, John C. (Erasmus Medical Centre. Department of Neurology) ;
Greicius, Michael D. (Stanford University. Department of Neurology and Neurological Sciences) ;
Yokoyama, Jennifer S. (University of California. Memory and Aging Center, Department of Neurology) ;
Cruchaga, Carlos (Washington University School of Medicine. Hope Center for Neurological Disorders) ;
Hardy, John (University College London Institute of Neurology. Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience) ;
Ramirez, Alfredo (University of Cologne. Cluster of Excellence Cellular Stress Responses in Aging-Associated Diseases) ;
Mead, Simon (University College London. Institute of Prion Diseases) ;
van der Flier, Wiesje M. (Amsterdam Neuroscience, Neurodegeneration) ;
van Duijn, Cornelia M. (Nuffield Department of Population Health Oxford University) ;
Williams, Julie (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics,, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ;
Nicolas, Gaël (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ;
Bellenguez, Céline (Université Lille, INSERM, Centre Hospitalier Universitaire Lille, Institut Pasteur de Lille, U1167-RID-AGE facteurs de risque et déterminants moléculaires des maladies liées au vieillissement) ;
Lambert, Jean-Charles (Université Lille, INSERM, Centre Hospitalier Universitaire Lille, Institut Pasteur de Lille, U1167-RID-AGE facteurs de risque et déterminants moléculaires des maladies liées au vieillissement) ;
Universitat Autònoma de Barcelona
Alzheimer's disease (AD), the leading cause of dementia, has an estimated heritability of approximately 70% . The genetic component of AD has been mainly assessed using genome-wide association studies, which do not capture the risk contributed by rare variants . [...]
2022 -  10.1038/s41588-022-01208-7
Nature genetics, Vol. 54 (november 2022) , p. 1786-1794
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13 p, 1.3 MB |
Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease
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Escott-Price, Valentina (Clinical Cardiff University) ;
Bellenguez, Céline (Institut Pasteur de Lille, Lille, France) ;
Wang, Li-San (Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America) ;
Choi, Seung-Hoan (Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, United States of America) ;
Harold, Denise (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ;
Jones, Lesley (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ;
Holmans, Peter (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ;
Gerrish, Amy (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ;
Vedernikov, Alexey (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ;
Richards, Alexander (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ;
DeStefano, Anita L. (Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, United States of America) ;
Lambert, Jean-Charles (Institut Pasteur de Lille, Lille, France) ;
Ibrahim-Verbaas, Carla A. (Department of Epidemiology and Neurology, Erasmus MC University Medical Center, Rotterdam, the Netherlands) ;
Naj, Adam C. (University of Pennsylvania Perelman School of Medicine. Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine) ;
Sims, Rebecca (Cardiff University. Institute of Psychological Medicine and Clinical Neurosciences) ;
Jun, Gyungah (Department of Ophthalmology, Boston University School of Medicine, Boston, Massachusetts, United States of America) ;
Bis, Joshua C. (Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington, United States of America) ;
Beecham, Gary W. (Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, United States of America) ;
Grenier-Boley, Benjamin (Institut Pasteur de Lille, Lille, France) ;
Russo, Giancarlo (Functional Genomics Center Zurich, ETH/University of Zurich, Zurich, Switzerland) ;
Thornton-Wells, Tricia A. (Vanderbilt University (Nashville, Estats Units d'Amèrica)) ;
Denning, Nicola (Cardiff University) ;
Smith, Albert V. (Icelandic Heart Association, Kopavogur, Iceland) ;
Chouraki, Vincent (Boston University School of Medicine) ;
Thomas, Charlene (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ;
Ikram, M. Arfan (Netherlands Consortium for Healthy Aging, Leiden, The Netherlands) ;
Zelenika, Diana (Centre National de Genotypage, Institut Genomique, Commissariat à l'énergie Atomique, Evry, France) ;
Vardarajan, Badri N. (Gertrude H. Sergievsky Center, Department of Neurology, Columbia University, New York, New York, United States of America) ;
Kamatani, Yoichiro (Fondation Jean Dausset- CEPH, Paris, France) ;
Lin, Chiao-Feng (Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America) ;
Schmidt, Helena (Institute for Molecular Biology and Biochemistry, Medical University of Graz, Graz, Austria) ;
Kunkle, Brian (The John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, United States of America) ;
Dunstan, Melanie L. (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ;
Vronskaya, Maria (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ;
Johnson, Andrew D. (NHLBI Cardiovascular Epidemiology and Human Genomics Branch, The Framingham Heart Study, Framingham, Massachusetts, United States of America) ;
Ruiz, Agustin (Fundació ACE) ;
Bihoreau, Marie-Thérèse (Centre National de Genotypage, Institut Genomique, Commissariat à l'énergie Atomique, Evry, France) ;
Reitz, Christiane (Gertrude H. Sergievsky Center, Department of Neurology, Columbia University, New York, New York, United States of America) ;
Pasquier, Florence (CNR-MAJ, Centre Hospitalier Régional Universitaire de Lille, Lille, France) ;
Hollingworth, Paul (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ;
Hanon, Olivier (University Paris Descartes, Sorbonne Paris V, Broca Hospital, Geriatrics department, Paris, France) ;
Fitzpatrick, Annette L. (Departments of Epidemiology and Global Health, University of Washington, Seattle, Washington, United States of America) ;
Buxbaum, Joseph D (Icahn School of Medicine at Mount Sinai) ;
Campion, Dominique (CNR-MAJ, Inserm U1079, Rouen University Hospital, 76031 France, Rouen, France) ;
Crane, Paul K. (Department of Medicine, University of Washington, Seattle, Washington, United States of America) ;
Baldwin, Clinton (Department of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, Massachusetts, United States of America) ;
Becker, Tim (German Center for Neurodegenerative Diseases (DZNE), Bonn, and Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany) ;
Gudnason, Vilmundur (Icelandic Heart Association, Kopavogur, Iceland) ;
Cruchaga, Carlos (Department of Psychiatry and Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University School of Medicine, St. Louis, Missouri, United States of America) ;
Craig, David (Queen's University Belfast. Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences) ;
Amin, Najaf (Department of Epidemiology, Erasmus MC University Medical Center, Rotterdam, the Netherlands) ;
Berr, Claudine (Université Montpellier, INSERM, Institute for Neurosciences of Montpellier) ;
Lopez, Oscar L. (Departments of Neurology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, United States of America) ;
De Jager, Philip L. (Program in Medical and Population Genetics, Broad Institute, Boston, Massachusetts, United States of America) ;
Deramecourt, Vincent (CNR-MAJ, Centre Hospitalier Régional Universitaire de Lille, Lille, France) ;
Johnston, Janet A. (Queen's University Belfast. Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences) ;
Evans, Denis (Rush Institute for Healthy Aging, Department of Internal Medicine, Rush University Medical Center, Chicago, Illinois, United States of America) ;
Lovestone, Simon (King's College London, Institute of Psychiatry, Department of Neuroscience, De Crespigny Park, Denmark Hill, London, United Kingom) ;
Letenneur, Luc (Inserm U897, Victor Segalen University, F-33076, Bordeaux, France) ;
Hernández, Isabel (Fundació ACE) ;
Rubinsztein, David C. (Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom) ;
Eiriksdottir, Gudny (Icelandic Heart Association, Kopavogur, Iceland) ;
Sleegers, Kristel (Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ;
Goate, Alison M. (Department of Psychiatry and Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University School of Medicine, St. Louis, Missouri, United States of America) ;
Fiévet, Nathalie (Institut Pasteur de Lille, Lille, France) ;
Huentelman, Matthew J. (Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona, United States of America) ;
Gill, Michael (Discipline of Psychiatry, Trinity College, Dublin, Ireland) ;
Brown, Kristelle (Institute of Genetics, Queen's Medical Centre, University of Nottingham, Nottingham, United Kingdom) ;
Kamboh, M. Ilyas (Alzheimer's Disease Research Center, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America) ;
Keller, Lina (Aging Reasearch Center, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet and Stockholm University, Stockholm, Sweden) ;
Barberger-Gateau, Pascale (King's College London, Institute of Psychiatry, Department of Neuroscience, De Crespigny Park, Denmark Hill, London, United Kingom) ;
McGuinness, Bernadette (Queen's University Belfast. Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences) ;
Larson, Eric B. (Group Health Research Institute, Group Health, Seattle, Washington, United States of America) ;
Myers, Amanda J. (Department of Psychiatry and Behavioral Sciences, Miller School of Medicine, University of Miami, Miami, Florida, United States of America) ;
Dufouil, Carole (Inserm U897, Victor Segalen University, F-33076, Bordeaux, France) ;
Todd, Stephen (Queen's University Belfast. Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences) ;
Wallon, David (CNR-MAJ, Inserm U1079, Rouen University Hospital, 76031 France, Rouen, France) ;
Love, Seth (University of Bristol Institute of Clinical Neurosciences, School of Clinical Sciences, Frenchay Hospital, Bristol, United Kingdom) ;
Rogaeva, Ekaterina (Tanz Centre for Research in Neurodegenerative Disease, University of Toronto, Toronto, Ontario, Canada) ;
Gallacher, John (Institute of Primary Care and Public Health, Cardiff University, Neuadd Meirionnydd, University Hospital of Wales, Heath Park, Cardiff, United Kingdom) ;
St George Hyslop, Peter (Cambridge Institute for Medical Research and Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom) ;
Clarimón, Jordi (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Lleo, Alberto (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Bayer, Anthony (Institute of Primary Care and Public Health, Cardiff University, Neuadd Meirionnydd, University Hospital of Wales, Heath Park, Cardiff, United Kingdom) ;
Tsuang, Debby W. (Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, United States of America) ;
Yu, Lei (Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, United States of America) ;
Tsolaki, Magda (3rd Department of Neurology, Aristotle University of Thessaloniki, Thessaloniki, Greece) ;
Bossù, Paola (Clinical and Behavioral Neurology, Fondazione Santa Lucia, Roma, Italy) ;
Spalletta, Gianfranco (Clinical and Behavioral Neurology, Fondazione Santa Lucia, Roma, Italy) ;
Proitsi, Petra (King's College London, Institute of Psychiatry, Department of Neuroscience, De Crespigny Park, Denmark Hill, London, United Kingom) ;
Collinge, John (MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom) ;
Sorbi, Sandro (Centro di Ricerca, Trasferimento e Alta Formazione DENOTHE, University of Florence, Florence, Italy) ;
Garcia, Florentino Sanchez (Hospital Universitario de Gran Canaria Dr. Negrín) ;
Fox, Nick C. (University College London Queen Square Institute of Neurology. Dementia Research Centre) ;
Hardy, John (Department of Molecular Neuroscience and Reta Lilla Weston Laboratories, Institute of Neurology, London, United Kingdom) ;
Naranjo, Maria Candida Deniz (Hospital Universitario de Gran Canaria Dr. Negrín) ;
Bosco, Paolo (IRCCS Associazione Oasi Maria SS, Troina, Italy) ;
Clarke, Robert (Oxford Healthy Aging Project (OHAP), Clinical Trial Service Unit, University of Oxford, Oxford, United Kingdom) ;
Brayne, Carol (Cognitive Function and Ageing Study (CFAS), Institute of Public Health, University of Cambridge, Cambridge, United Kingdom) ;
Galimberti, Daniela (University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Milan, Italy) ;
Scarpini, Elio (University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Milan, Italy) ;
Bonuccelli, Ubaldo (Neurological Clinic, University of Pisa, Pisa, Italy) ;
Mancuso, Michelangelo (Neurological Clinic, University of Pisa, Pisa, Italy) ;
Siciliano, Gabriele (Neurological Clinic, University of Pisa, Pisa, Italy) ;
Moebus, Susanne (Urban Epidemiology, Institute for Medical Informatics, Biometry and Epidemiology, University Hospital Essen, University Duisburg-Essen, Essen, Germany) ;
Mecocci, Patrizia (University of Perugia (Itàlia)) ;
Zompo, Maria Del (Section of Neuroscience and Clinical Pharmacology, Department of Biomedical Sciences, University of Cagliari, Cagliari, Italy) ;
Maier, Wolfgang (Department of Psychiatry and Psychotherapy, University of Bonn, Germany and German Center for Neurodegenerative Diseases (DZNE, Bonn), Bonn, Germany) ;
Hampel, Harald (Department of Psychiatry, Ludwig-Maximilians University, Munich, Germany) ;
Pilotto, Alberto (Gerontology and Geriatrics Research Laboratory, I.R.C.C.S. Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy) ;
Frank-García, Ana (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Panza, F. (University of Bari Aldo Moro) ;
Solfrizzi, Vincenzo (Department of Geriatrics,Center for Aging Brain,University of Bari, Bari, Italy) ;
Caffarra, Paolo (Center for Cognitive Disorders AUSL, Parma, Italy) ;
Nacmias, Benedetta (Centro di Ricerca, Trasferimento e Alta Formazione DENOTHE, University of Florence, Florence, Italy) ;
Perry, William (Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, United States of America) ;
Mayhaus, Manuel (Department Of Psychiatry, University Hospital, Saarland, Germany) ;
Lannfelt, Lars (Department of Public Health/Geriatrics, Uppsala University, Uppsala, Sweden) ;
Hakonarson, Hakon (Children's Hospital of Philadelphia (Pennsilvània)) ;
Pichler, Sabrina (Department Of Psychiatry, University Hospital, Saarland, Germany) ;
Carrasquillo, Minerva M. (Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America) ;
Ingelsson, Martin (Department of Public Health/Geriatrics, Uppsala University, Uppsala, Sweden) ;
Beekly, Duane (National Alzheimer's Coordinating Center, University of Washington, Seattle, Washington, United States of America) ;
Alvarez, Victoria (Genetica molecular-Huca-Oviedo, Oviedo, Spain) ;
Zou, Fanggeng (Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America) ;
Valladares, Otto (University of Pennsylvania Perelman School of Medicine) ;
Younkin, Steven G. (Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America) ;
Coto, Eliecer (Genetica molecular-Huca-Oviedo, Oviedo, Spain) ;
Hamilton-Nelson, Kara L. (The John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, United States of America) ;
Gu, Wei (Department of Psychiatry, University Hospital, Saarland, Germany) ;
Razquin, Cristina (Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra School of Medicine, Pamplona, Spain) ;
Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Mateo, Ignacio (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Owen, Michael J. (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ;
Faber, Kelley M. (Department of Medical and Molecular Genetics, Indiana University, Indianapolis, Indiana, United States of America) ;
Jonsson, Palmi V. (Landspitali University Hospital (Reykjavík, Islàndia)) ;
Combarros, Onofre (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
O'Donovan, Michael C. (Cardiff University) ;
Cantwell, Laura B. (Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America) ;
Soininen, Hilkka (Kuopio University Hospital ( Finlàndia)) ;
Blacker, Deborah (Massachusetts General Hospital (Boston)) ;
Mead, Simon (University College London. Institute of Neurology) ;
Mosley, Thomas H. (Department of Medicine (Geriatrics), University of Mississippi Medical Center, Jackson, Mississippi, United States of America) ;
Bennett, David A. (Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, Illinois, United States of America) ;
Harris, Tamara B. (Laboratory of Epidemiology, Demography, and Biometry, National Institute of Health, Bethesda, Maryland, United States of America) ;
Fratiglioni, Laura (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Holmes, Clive (Division of Clinical Neurosciences, School of Medicine, University of Southampton, Southampton, United Kingdom) ;
de Bruijn, Renee F. A. G. (Departments of Neurology and Epidemiology, Erasmus MC University Medical Center, Rotterdam, the Netherlands) ;
Passmore, Peter (Queen's University Belfast. Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences) ;
Montine, Thomas J. (Department of Pathology, University of Washington, Seattle, Washington, United States of America) ;
Bettens, Karolien (Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ;
Rotter, Jerome I. (Institute for Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, California, United States of America) ;
Brice, Alexis (AP-HP, Hôpital de la Pitié-Salpêtrière, Paris, France) ;
Morgan, Kevin (Institute of Genetics, Queen's Medical Centre, University of Nottingham, Nottingham, United Kingdom) ;
Foroud, Tatiana M. (Department of Medical and Molecular Genetics, Indiana University, Indianapolis, Indiana, United States of America) ;
Kukull, Walter A. (Department of Epidemiology, University of Washington, Seattle, Washington, United States of America) ;
Hannequin, Didier (CNR-MAJ, Inserm U1079, Rouen University Hospital, 76031 France, Rouen, France) ;
Powell, John F. (King's College London, Institute of Psychiatry, Department of Neuroscience, De Crespigny Park, Denmark Hill, London, United Kingom) ;
Nalls, Michael A.. (Laboratory of Neurogenetics, Intramural Research Program, National Institute on Aging, Bethesda, Maryland, United States of America) ;
Ritchie, Karen (Imperial College, London, United Kingdom) ;
Lunetta, Kathryn L. (Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, United States of America) ;
Kauwe, John S. K. (Department of Biology, Brigham Young University, Provo, Utah, United States of America) ;
Boerwinkle, Eric (Human Genetics Center and Div. of Epidemiology, University of Texas Health Sciences Center at Houston, Houston, Texas, United States of America) ;
Riemenschneider, Matthias (Department of Psychiatry, University Hospital, Saarland, Germany) ;
Boada, Mercè (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Hiltunen, Mikko (Kuopio University Hospital ( Finlàndia)) ;
Martin, Eden R. (Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, United States of America) ;
Schmidt, Reinhold (Department of Neurology, Medical University Graz, Graz, Austria) ;
Rujescu, Dan (Department of Psychiatry, Ludwig-Maximilians University, Munich, Germany) ;
Dartigues, Jean-François (Centre de Mémoire de Ressources et de Recherche de Bordeaux, CHU de Bordeaux, Bordeaux, France) ;
Mayeux, Richard (Gertrude H. Sergievsky Center, Department of Neurology, Columbia University, New York, New York, United States of America) ;
Tzourio, Christophe (Inserm U708, Victor Segalen University, Bordeaux, France) ;
Hofman, Albert (Netherlands Consortium for Healthy Aging, Leiden, The Netherlands) ;
Nöthen, Markus M. (University of Bonn. Life and Brain Center) ;
Graff, Caroline (Karolinska Institutet (Estocolm, Suècia). Department of Neurobiology, Care Sciences and Society) ;
Psaty, Bruce M. (Group Health Research Institute, Group Health Cooperative, Seattle, Washington, United States of America) ;
Haines, Jonathan L. (Department of Epidemiology & Biostatistics, Case Western Reserve University, Cleveland, Ohio, United States of America) ;
Lathrop, Mark (McGill University and Génome Québec Innovation Centre, Montreal, Canada) ;
Pericak-Vance, Margaret A. (Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, United States of America) ;
Launer, Lenore J. (Laboratory of Epidemiology, Demography, and Biometry, National Institute of Health, Bethesda, Maryland, United States of America) ;
Van Broeckhoven, Christine (Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ;
Farrer, Lindsay A. (Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, United States of America) ;
van Duijn, Cornelia M. (Center for Medical Systems Biology, Leiden, The Netherlands) ;
Ramirez, Alfredo (Department of Psychiatry and Psychotherapy and Institute of Human Genetics, University of Bonn, Bonn, Germany) ;
Seshadri, Sudha (The Framingham Heart Study, Framingham, Massachusetts, United States of America) ;
Schellenberg, Gerard D. (Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America) ;
Amouyel, Philippe (Centre Hospitalier Régional Universitaire de Lille, Lille, France) ;
Williams, Julie (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ;
Universitat Autònoma de Barcelona
Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought to identify new susceptibility genes, using an alternative gene-wide analytical approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over 7 m genotypes from 25,580 Alzheimer's cases and 48,466 controls. [...]
2014 - 10.1371/journal.pone.0094661
PloS one, Vol. 9 (june 2014)
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