换一批Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
第一作者：
Henne,Holstege
第一单位：
Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands. h.holstege@amsterdamumc.nl.;Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands. h.holstege@amsterdamumc.nl.;Amsterdam Neuroscience, Neurodegeneration, Amsterdam, the Netherlands. h.holstege@amsterdamumc.nl.;Delft Bioinformatics Lab, Delft University of Technology, Delft, the Netherlands. h.holstege@amsterdamumc.nl.
作者：
Henne,Holstege [1]
;
Marc,Hulsman [2]
;
Camille,Charbonnier [3]
;
Benjamin,Grenier-Boley [4]
;
Olivier,Quenez [3]
;
Detelina,Grozeva [5]
;
Jeroen G J,van Rooij [6]
;
Rebecca,Sims [5]
;
Shahzad,Ahmad [7]
;
Najaf,Amin [8]
;
Penny J,Norsworthy [9]
;
Oriol,Dols-Icardo [10]
;
Holger,Hummerich [9]
;
Amit,Kawalia [11]
;
Philippe,Amouyel [4]
;
Gary W,Beecham [12]
;
Claudine,Berr [13]
;
Joshua C,Bis [14]
;
Anne,Boland [15]
;
Paola,Bossù [16]
;
Femke,Bouwman [17]
;
Jose,Bras [18]
;
Dominique,Campion [3]
;
J Nicholas,Cochran [19]
;
Antonio,Daniele [20]
;
Jean-François,Dartigues [21]
;
Stéphanie,Debette [22]
;
Jean-François,Deleuze [15]
;
Nicola,Denning [23]
;
Anita L,DeStefano [24]
;
Lindsay A,Farrer [25]
;
Maria Victoria,Fernández [26]
;
Nick C,Fox [27]
;
Daniela,Galimberti [28]
;
Emmanuelle,Genin [29]
;
Johan J P,Gille [30]
;
Yann,Le Guen [31]
;
Rita,Guerreiro [18]
;
Jonathan L,Haines [32]
;
Clive,Holmes [33]
;
M Arfan,Ikram [34]
;
M Kamran,Ikram [34]
;
Iris E,Jansen [35]
;
Robert,Kraaij [36]
;
Marc,Lathrop [37]
;
Afina W,Lemstra [17]
;
Alberto,Lleó [10]
;
Lauren,Luckcuck [5]
;
Marcel M A M,Mannens [38]
;
Rachel,Marshall [5]
;
Eden R,Martin [39]
;
Carlo,Masullo [40]
;
Richard,Mayeux [41]
;
Patrizia,Mecocci [42]
;
Alun,Meggy [23]
;
Merel O,Mol [43]
;
Kevin,Morgan [44]
;
Richard M,Myers [19]
;
Benedetta,Nacmias [45]
;
Adam C,Naj [46]
;
Valerio,Napolioni [47]
;
Florence,Pasquier [48]
;
Pau,Pastor [49]
;
Margaret A,Pericak-Vance [39]
;
Rachel,Raybould [23]
;
Richard,Redon [50]
;
Marcel J T,Reinders [51]
;
Anne-Claire,Richard [3]
;
Steffi G,Riedel-Heller [52]
;
Fernando,Rivadeneira [36]
;
Stéphane,Rousseau [3]
;
Natalie S,Ryan [27]
;
Salha,Saad [5]
;
Pascual,Sanchez-Juan [53]
;
Gerard D,Schellenberg [54]
;
Philip,Scheltens [17]
;
Jonathan M,Schott [27]
;
Davide,Seripa [55]
;
Sudha,Seshadri [56]
;
Daoud,Sie [30]
;
Erik A,Sistermans [30]
;
Sandro,Sorbi [45]
;
Resie,van Spaendonk [30]
;
Gianfranco,Spalletta [57]
;
Niccolo',Tesi [58]
;
Betty,Tijms [59]
;
André G,Uitterlinden [36]
;
Sven J,van der Lee [58]
;
Pieter Jelle,Visser [59]
;
Michael,Wagner [60]
;
David,Wallon [61]
;
Li-San,Wang [54]
;
Aline,Zarea [61]
;
Jordi,Clarimon [10]
;
John C,van Swieten [43]
;
Michael D,Greicius [31]
;
Jennifer S,Yokoyama [62]
;
Carlos,Cruchaga [26]
;
John,Hardy [63]
;
Alfredo,Ramirez [64]
;
Simon,Mead [9]
;
Wiesje M,van der Flier [17]
;
Cornelia M,van Duijn [8]
;
Julie,Williams [5]
;
Gaël,Nicolas [65]
;
Céline,Bellenguez [4]
;
Jean-Charles,Lambert [66]
作者单位：
Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands. h.holstege@amsterdamumc.nl.;Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands. h.holstege@amsterdamumc.nl.;Amsterdam Neuroscience, Neurodegeneration, Amsterdam, the Netherlands. h.holstege@amsterdamumc.nl.;Delft Bioinformatics Lab, Delft University of Technology, Delft, the Netherlands. h.holstege@amsterdamumc.nl.
[1]
Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands. m.hulsman1@amsterdamumc.nl.;Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands. m.hulsman1@amsterdamumc.nl.;Amsterdam Neuroscience, Neurodegeneration, Amsterdam, the Netherlands. m.hulsman1@amsterdamumc.nl.;Delft Bioinformatics Lab, Delft University of Technology, Delft, the Netherlands. m.hulsman1@amsterdamumc.nl.
[2]
Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ, Rouen, France.
[3]
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, Lille, France.
[4]
Medical Research Council Centre for Neuropsychiatric Genetics and Genomics,, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine, Cardiff University, Cardiff, UK.
[5]
Department of Neurology, Erasmus Medical Centre, Rotterdam, the Netherlands.;Department of Internal Medicine, Erasmus Medical Centre, Rotterdam, the Netherlands.
[6]
Department of Epidemiology, Erasmus Medical Centre, Rotterdam, the Netherlands.;Leiden Academic Centre for Drug Research, Leiden, the Netherlands.
[7]
Department of Epidemiology, Erasmus Medical Centre, Rotterdam, the Netherlands.;Nuffield Department of Population Health Oxford University, Oxford, UK.
[8]
Medical Research Council Prion Unit at University College London, University College London Institute of Prion Diseases, London, UK.
[9]
Department of Neurology, II B Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.;Biomedical Research Networking Center on Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.
[10]
Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
[11]
The John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA.
[12]
Université Montpellier, INSERM, Institute for Neurosciences of Montpellier, Montpellier, France.
[13]
Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.
[14]
Université Paris-Saclay, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, Centre National de Recherche en Génomique Humaine Evry, Gif-sur-Yvette, France.
[15]
Experimental Neuro-psychobiology Laboratory, Department of Clinical and Behavioral Neurology, Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia Foundation, Rome, Italy.
[16]
Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands.;Amsterdam Neuroscience, Neurodegeneration, Amsterdam, the Netherlands.
[17]
Department of Neurodegenerative Science, Van Andel Institute, Grand Rapids, MI, USA.;Division of Psychiatry and Behavioral Medicine, Michigan State University College of Human Medicine, Grand Rapids, MI, USA.
[18]
HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.
[19]
Department of Neuroscience, Catholic University of Sacred Heart, Fondazione Policlinico Universitario A. Gemelli Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
[20]
Université Bordeaux, INSERM, Bordeaux Population Health Research Center, Bordeaux, France.
[21]
Université Bordeaux, INSERM, Bordeaux Population Health Research Center, Bordeaux, France.;Department of Neurology, Bordeaux University Hospital, Bordeaux, France.
[22]
UKDRI Cardiff, School of Medicine, Cardiff University, Cardiff, UK.
[23]
Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA.;Framingham Heart Study, Framingham, MA, USA.;Department of Neurology, Boston University School of Medicine, Boston, MA, USA.
[24]
Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA.;Department of Neurology, Boston University School of Medicine, Boston, MA, USA.;Department of Epidemiology, Boston University, Boston, MA, USA.;Department of Medicine (Biomedical Genetics), Boston University, Boston, MA, USA.
[25]
Neurogenomics and Informatics Center, Washington University School of Medicine, St Louis, MO, USA.;Psychiatry Department, Washington University School of Medicine, St Louis, MO, USA.;Hope Center for Neurological Disorders, Washington University School of Medicine, St Louis, MO, USA.
[26]
Dementia Research Centre, University College London Queen Square Institute of Neurology, London, UK.
[27]
Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca' Granda, Ospedale Policlinico, Milan, Italy.;University of Milan, Milan, Italy.
[28]
Université Brest, INSERM, Etablissement Français du Sang, Centre Hospitalier Universitaire Brest, Unité Mixte de Recherche 1078, GGB, Brest, France.
[29]
Genome Diagnostics, Department of Human Genetics, VU University, AmsterdamUMC (location VUmc), Amsterdam, the Netherlands.
[30]
Department of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA.
[31]
Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA.
[32]
Clinical and Experimental Science, Faculty of Medicine, University of Southampton, Southampton, UK.
[33]
Department of Epidemiology, Erasmus Medical Centre, Rotterdam, the Netherlands.
[34]
Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands.;Amsterdam Neuroscience, Neurodegeneration, Amsterdam, the Netherlands.;Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, Vrije University, Amsterdam, the Netherlands.
[35]
Department of Internal Medicine, Erasmus Medical Centre, Rotterdam, the Netherlands.
[36]
McGill University and Genome Quebec Innovation Centre, Montreal, Quebec, Canada.
[37]
Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, the Netherlands.
[38]
The John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA.;Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, FL, USA.
[39]
Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy.
[40]
Taub Institute on Alzheimer's Disease and the Aging Brain, Department of Neurology, Columbia University, New York, NY, USA.;Gertrude H. Sergievsky Center, Columbia University, New York, NY, USA.
[41]
Institute of Gerontology and Geriatrics, Department of Medicine and Surgery, University of Perugia, Perugia, Italy.
[42]
Department of Neurology, Erasmus Medical Centre, Rotterdam, the Netherlands.
[43]
Human Genetics, School of Life Sciences, University of Nottingham, Nottingham, UK.
[44]
Department of Neuroscience, Psychology, Drug Research and Child Health University of Florence, Florence, Italy.;IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy.
[45]
Penn Neurodegeneration Genomics Center, Department of Biostatistics, Epidemiology, and Informatics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.;Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
[46]
Department of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA.;Genomic and Molecular Epidemiology Laboratory, School of Biosciences and Veterinary Medicine, University of Camerino, Camerino, Italy.
[47]
Université Lille, INSERM, Centre Hospitalier Universitaire Lille, UMR1172, Resources and Research Memory Center (MRRC) of Distalz, Licend, Lille, France.
[48]
Fundació Docència i Recerca MútuaTerrassa and Movement Disorders Unit, Department of Neurology, University Hospital MútuaTerrassa, Barcelona, Spain.;Memory Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, Barcelona, Spain.
[49]
Université de Nantes, Centre Hospitalier Universitaire Nantes, Centre National de la Recherche Scientifique, INSERM, l'institut du Thorax, Nantes, France.
[50]
Delft Bioinformatics Lab, Delft University of Technology, Delft, the Netherlands.
[51]
Institute of Social Medicine, Occupational Health and Public Health, University of Leipzig, Leipzig, Germany.
[52]
Biomedical Research Networking Center on Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.;Neurology Service, Marqués de Valdecilla University Hospital (University of Cantabria and IDIVAL), Santander, Spain.
[53]
Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
[54]
Laboratory for Advanced Hematological Diagnostics, Department of Hematology and Stem Cell Transplant, Lecce, Italy.
[55]
Framingham Heart Study, Framingham, MA, USA.;Department of Neurology, Boston University School of Medicine, Boston, MA, USA.;Department of Psychiatry and Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, San Antonio, TX, USA.
[56]
Laboratory of Neuropsychiatry, Department of Clinical and Behavioral Neurology, Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia Foundation, Rome, Italy.
[57]
Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands.;Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands.;Amsterdam Neuroscience, Neurodegeneration, Amsterdam, the Netherlands.;Delft Bioinformatics Lab, Delft University of Technology, Delft, the Netherlands.
[58]
Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands.
[59]
Department of Neurodegenerative Diseases and Geriatric Psychiatry, University Hospital Bonn, Medical Faculty, Bonn, Germany.;German Center for Neurodegenerative Diseases, Bonn, Germany.
[60]
Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Neurology and CNRMAJ, Rouen, France.
[61]
Memory and Aging Center, Department of Neurology, University of California, San Francisco, CA, USA.
[62]
Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, University College London Institute of Neurology, London, UK.
[63]
Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.;Department of Psychiatry and Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, San Antonio, TX, USA.;Department of Neurodegenerative Diseases and Geriatric Psychiatry, University Hospital Bonn, Medical Faculty, Bonn, Germany.;German Center for Neurodegenerative Diseases, Bonn, Germany.;Cluster of Excellence Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, Cologne, Germany.
[64]
Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ, Rouen, France. gaelnicolas@hotmail.com.
[65]
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, Lille, France. jean-charles.lambert@pasteur-lille.fr.
[66]
医学主题词
人类(Humans);腺苷三磷酸酶类(Adenosine Triphosphatases);阿尔茨海默病(Alzheimer Disease);全基因组关联研究(Genome-Wide Association Study);危险因素(Risk Factors);外泌体(Exosomes)
DOI
10.1038/s41588-022-01208-7
PMID
36411364
发布时间
2025-05-30
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Nature genetics
Nature genetics
1786-1794页
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