Genome-wide meta-analysis for Alzheimer's disease cerebrospinal fluid biomarkers
Jansen, Iris (Vrije Universiteit Amsterdam)
van der Lee, Sven J (Vrije Universiteit Amsterdam)
Gomez-Fonseca, Duber (Washington University School of Medicine)
De Rojas, Itziar (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas)
Dalmasso, Maria Carolina (Neurosciences and Complex Systems Unit (ENyS). CONICET. Hospital El Cruce. National University A. Jauretche (UNAJ))
Grenier-Boley, Benjamin (Université de Lille)
Zettergren, Anna (University of Gothenburg)
Mishra, Aniket (Université de Bordeaux)
Ali, Muhammad (Washington University School of Medicine)
Andrade, Victor (University Hospital Bonn. Medical Faculty)
Bellenguez, Céline (Université de Lille)
Kleineidam, Luca (German Center for Neurodegenerative Diseases (DZNE))
Küçükali, Fahri (University of Antwerp. Department of Biomedical Sciences)
Sung, Ju Sung (Washington University School of Medicine)
Tesí, Niccolo (Vrije Universiteit Amsterdam)
Vromen, Ellen (Amsterdam Neuroscience. Neurodegeneration)
Wightman, Douglas P (Vrije Universiteit Amsterdam)
Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau)
Alegret, Montserrat (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas)
Alvarez, Ignacio (Fundació per a la Recerca Biomèdica i Social Mútua de Terrassa)
Amouyel, Philippe (Université de Lille)
Athanasiu, Lavinia (NORMENT Centre. Institute of Clinical Medicine. University of Oslo and Division of Mental Health)
Bahrami, Shahram (NORMENT Centre. Institute of Clinical Medicine. University of Oslo and Division of Mental Health)
Bailly, Henri (Université Paris Cité)
Belbin, Olivia (Institut d'Investigació Biomèdica Sant Pau)
Bergh, Sverre (Vestfold Hospital Trust)
Bertram, Lars (University of Lübeck)
Biessels, Geert Jan (UMC Utrecht Brain Center)
Blennow, Kaj (Sahlgrenska University Hospital (Suècia))
Blesa, Rafael (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Boada, Mercè (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas)
Boland, Anne (Université Paris-Saclay. Centre National de Recherche en Génomique Humaine)
Buerger, K. (Institute for Stroke and Dementia Research (ISD). University Hospital. LMU Munich)
Carracedo, Ángel (Fundación Pública Galega de Medicina Xenómica-CIBERER-IDIS)
Cervera Carles, Laura (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Chene, Geneviève (Department of Neurology. CHU de Bordeaux)
Claassen, Jurgen (Donders Center for Medical Neuroscience)
Debette, Stephanie (University School of Medicine)
Deleuze, Jean‑Francois (Université Paris-Saclay. Centre National de Recherche en Génomique Humaine)
De Deyn, Peter Paul (University Medical Center Groningen. Department of Neurology and Alzheimer Center Groningen.)
Diehl-Schmid, Janine (kbo-Inn-Salzach-Hospital)
Djurovic, Srdjan (University of Bergen. Department of Clinical Science. NORMENT Centre.)
Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau)
Dufouil, Carole (Pôle de Santé Publique)
Duron, Emmanuelle (Univerisité Paris-Saclay)
Düzel, Emrah (Otto-von-Guericke University Magdeburg. Institute of Cognitive Neurology and Dementia Research)
Fladby, Tormod (Akershus University Hospital. Department of Neurology.)
Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau)
Frölich, Lutz (Medical Faculty Mannheim. Department of Geriatric Psychiatry. Central Institute of Mental Health.)
García-González, Pablo (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas)
Garcia-Martinez, María (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria))
Giegling, Ina (Medical University of Vienna)
Goldhardt, Oliver (Technical University of Munich)
Gobom, Johan (Sahlgrenska University Hospital (Suècia))
Grimmer, Timo (Technical University of Munich)
Haapasalo, Annakaisa (University of Eastern Finland A.I. Virtanen Institute for Molecular Sciences)
Hampel, Harald (Neurology Business Group. Eisai Inc)
Hanon, Olivier (Service gériatrie. Centre Mémoire de Ressources et Recherches Ile de France-Broca. AP-HP. Hôpital Broca)
Hausner, Lucrezia (Central Institute of Mental Health. Department of Geriatric Psychiatry)
Heilmann-Heimbach, Stefanie (Institute of Human Genetics. University of Bonn. School of Medicine and University Hospital Bonn)
Helisalmi, Seppo (University of Eastern Finland. Institute of Clinical Medicine)
Heneka, Michael (German Center for Neurodegenerative Diseases (DZNE))
Hernández, Isabel (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas)
Herukka, Sanna‑Kaisa (University of Eastern Finland. Department of Neurology. Institute of Clinical Medicine)
Holstege, Henne (Vrije Universiteit Amsterdam. Section Genomics of Neurodegenerative Diseases and Aging)
Jarholm, Jonas (Akershus University Hospital. Department of Neurology.)
Kern, Silke (Sahlgrenska University Hospital. Psychiatry. Cognition and Old Age Psychiatry Clinic)
Knapskog, Anne‑Brita (Oslo University Hospital. Department of Geriatric Medicine)
Koivisto, A.M. (Department of Neurology. Helsinki University Hospital)
Kornhuber, Johannes (Friedrich-Alexander Universität Erlangen-Nürnberg)
Kuulasmaa, Teemu (University of Eastern Finland)
Lage, Carmen (University of California)
Laske, Christoph (University of Tübingen. Hertie Institute for Clinical Brain Research and Department of Psychiatry and Psychotherapy.)
Leinonen, Ville (Kuopio University Hospita. Department of Neurosurgery.)
Lewczuk, Piotr (Medical University of Białystok. Department of Neurodegeneration Diagnostics.)
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau)
López de Munain, Adolfo (University of The Basque Country)
López-Garcia, Sara (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria))
Maier, Wolfgang (University Hospital Bonn. Department of Neurodegenerative Diseases and Geriatric Psychiatry)
Marquié, Marta (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas)
Mol, Merel O. (Erasmus Medical Centre. Department of Neurology)
Montrreal, Laura (Universitat Internacional de Catalunya. Ace Alzheimer Center Barcelona)
Moreno, Fermin (Biodonostia Osasun Ikerketako Institutura (País Basc))
Moreno-Grau, Sonia (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas)
Nicolas, Gael (Normandie Univ. UNIROUEN. Department of Genetics and CNR-MAJ)
Nöthen, Markus M. (Institute of Human Genetics. University of Bonn. School of Medicine and University Hospital Bonn)
Orellana, Adelina (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas)
Pålhaugen, Lene (Akershus University Hospital. Department of Neurology)
Papma, Janne M. (Erasmus MC University Medical Center. Department of Neurology and Alzheimer Center Erasmus MC)
Pasquier, Florence (Université Lille)
Perneczky, Robert (Imperial College London. Ageing Epidemiology Research Unit)
Peters, Oliver (German Center for Neurodegenerative Diseases (DZNE))
Pijnenburg, Yolande A.L. (Amsterdam Neuroscience. Neurodegeneration)
Popp, Julius (University Hospital of Lausanne. Department of Psychiatry)
Posthuma, Danielle (Vrije Universiteit Amsterdam)
Pozueta, Ana (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria))
Priller, Josef (Technical University Munich. Department of Psychiatry and Psychotherapy)
Puerta, Raquel (Universitat Internacional de Catalunya. Ace Alzheimer Center Barcelona)
Quintela, Inés (Grupo de Medicina Xenómica. Centro Nacional de Genotipado (CEGEN-PRB3-ISCIII). Universidade de Santiago de Compostela)
Ramakers, Inez (Maastricht University. Department of Psychiatry and Neuropsychologie)
Rodríguez-Rodríguez, Eloy (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria))
Rujescu, Dan (Medical University of Vienna. Department of Psychiatry and Psychotherapy)
Saltvedt, Ingvild (University Hospital of Trondheim. Department of Geriatrics)
Sánchez-Juan, Pascual (Alzheimer's Centre Reina Sofia-CIEN Foundation-ISCIII)
Scheltens, Philip (Amsterdam Neuroscience. Neurodegeneration)
Scherbaum, Norbert (University of Duisburg-Essen)
Schmid, Matthias (University Hospital of Bonn. Institute of Medical Biometry)
Schneider, Anja (German Center for Neurodegenerative Diseases (DZNE))
Selbæk, Geir (Oslo University Hospital.Department of Geriatric Medicine)
Selnes, Per (Akershus University Hospital. Department of Neurology)
Shadrin, Alexey (University of Oslo and Division of Mental Health. Institute of Clinical Medicine)
Skoog, Ingmar (Sahlgrenska University Hospital (Suècia))
Soininen, Hilkka (University of Eastern Finland. Institute of Clinical Medicine.)
Tárraga, Lluís (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas)
Teipel, Stefan (Rostock University Medical Center. Department of Psychosomatic Medicine)
Tijms, Betty M (Amsterdam Neuroscience. Neurodegeneration)
Tsolaki, Magda (Aristotle University of Thessaloniki)
Van Broeckhoven, Christine (Neurodegenerative Brain Diseases Group. VIB Center for Molecular Neurology. VIB)
Van Dongen, Jasper (University of Antwerp. Department of Biomedical Sciences)
van Swieten, John C. (Erasmus MC University Medical Center)
Vandenberghe, Rik (Leuven Brain Institute. Department of Neurosciences.)
Vidal, Jean‑Sébastien (Université Paris Cité)
Visser, Pieter J. (Division of Neurogeriatrics Karolinska Institutet. Department of Neurobiology)
Vogelgsang, Jonathan (Harvard Medical School. Department of Psychiatry)
Waern, Margda (Sahlgrenska University Hospital (Suècia))
Wagner, Michael (German Center for Neurodegenerative Diseases (DZNE))
Wiltfang, Jens W (Medical Science Department. iBiMED)
Wittens, Mandy M.J. (Vrije Universiteit Brussel)
Zetterberg, Henrik (Hong Kong Center for Neurodegenerative Diseases)
Zulaica, Miren (Biodonostia Osasun Ikerketako Institutura (País Basc))
van Duijn, Cornelia M. (Nuffield Department of Population Health. Oxford University)
Bjerke, Maria (Universitair Ziekenhuis Brussel)
Engelborghs, Sebastiaan (Universitair Ziekenhuis Brussel. Department of Neurology)
Jessen, Frank (University of Cologne)
Teunissen, Charlotte E. (Vrije Universiteit Amsterdam)
Pastor, Pau (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Hiltunen, Mikko (University of Eastern Finland. Institute of Biomedicine)
Ingelsson, Martin (University of Toronto. Department of Medicine)
Andreassen, Ole A (Oslo University Hospital (Oslo, Noruega))
Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Sleegers, Kristel (University of Antwerp. Department of Biomedical Sciences)
Ruiz, Agustín (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas)
Ramirez, Alfredo (Department of Psychiatry. Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases)
Cruchaga, Carlos (Washington University School of Medicine. Hope Center for Neurological Disorders)
Lambert, Jean-Charles (Institut Pasteur de Lille)
van der Flier, Wiesje M (Amsterdam Neuroscience. Neurodegeneration)
Universitat Autònoma de Barcelona

Data:	2022
Resum:	Amyloid-beta 42 (Aβ42) and phosphorylated tau (pTau) levels in cerebrospinal fluid (CSF) reflect core features of the pathogenesis of Alzheimer's disease (AD) more directly than clinical diagnosis. Initiated by the European Alzheimer & Dementia Biobank (EADB), the largest collaborative effort on genetics underlying CSF biomarkers was established, including 31 cohorts with a total of 13,116 individuals (discovery n = 8074; replication n = 5042 individuals). Besides the APOE locus, novel associations with two other well-established AD risk loci were observed; CR1 was shown a locus for Aβ42 and BIN1 for pTau. GMNC and C16orf95 were further identified as loci for pTau, of which the latter is novel. Clustering methods exploring the influence of all known AD risk loci on the CSF protein levels, revealed 4 biological categories suggesting multiple Aβ42 and pTau related biological pathways involved in the etiology of AD. In functional follow-up analyses, GMNC and C16orf95 both associated with lateral ventricular volume, implying an overlap in genetic etiology for tau levels and brain ventricular volume.
Ajuts:	Instituto de Salud Carlos III PI13/02434 Instituto de Salud Carlos III PI16/01861 Instituto de Salud Carlos III PI17/01474 Instituto de Salud Carlos III PI19/01240 Instituto de Salud Carlos III PI19/01301 Instituto de Salud Carlos III FI20/00215 Instituto de Salud Carlos III PI08/0139 Instituto de Salud Carlos III PI12/02288 Instituto de Salud Carlos III PI16/01652 Instituto de Salud Carlos III PI20/01011 Instituto de Salud Carlos III PI11/03028 European Commission 301220 European Commission 115975 European Commission 115985 European Research Council 834057 European Research Council 681712 European Commission. Horizon 2020 860197 European Commission JPND2019-466-236
Nota:	Altres ajuts: European Alzheimer DNA BioBank, EADB; EU Joint Programme, Neurodegenerative Disease Research (JPND); Neurodegeneration research program of Amsterdam Neuroscience; Stichting Alzheimer Nederland; Stichting VUmc fonds; Stichting Dioraphte; JPco-fuND FP-829-029 (ZonMW projectnumber 733051061); Dutch Federation of University Medical Centers; Dutch Government (from 2007-2011); JPND EADB grant (German Federal Ministry of Education and Research (BMBF) grant: 01ED1619A); German Research Foundation (DFG RA 1971/6-1, RA1971/7-1, RA 1971/8-1); Grifols SA; Fundación bancaria 'La Caixa'; Fundació ACE; CIBERNED; Fondo Europeo de Desarrollo Regional (FEDER-'Una manera de hacer Europa'); NIH (P30AG066444, P01AG003991); Alzheimer Research Foundation (SAO-FRA), The Research Foundation Flanders (FWO), and the University of Antwerp Research Fund. FK is supported by a BOF DOCPRO fellowship of the University of Antwerp Research Fund; Siemens Healthineers; Valdecilla Biobank (PT17/0015/0019); Academy of Finland (338182); German Center for Neurodegenerative Diseases (DZNE); German Federal Ministry of Education and Research (BMBF 01G10102, 01GI0420, 01GI0422, 01GI0423, 01GI0429, 01GI0431, 01GI0433, 04GI0434, 01GI0711); ZonMW (#73305095007); Health~Holland, Topsector Life Sciences & Health (PPP-allowance #LSHM20106); Hersenstichting; Edwin Bouw Fonds; Gieskes-Strijbisfonds; NWO Gravitation program BRAINSCAPES: A Roadmap from Neurogenetics to Neurobiology (NWO: 024.004.012); Swedish Alzheimer Foundation (AF-939988, AF-930582, AF-646061, AF-741361); Dementia Foundation (2020-04-13, 2021-04-17); Swedish state under the agreement between the Swedish government and the county councils, the ALF-agreement (ALF 716681); Swedish Research Council (11267, 825-2012-5041, 2013-8717, 2015-02830, 2017-00639, 2019-01096); Swedish Research Council for Health, Working Life and Welfare (2001-2646, 2001-2835, 2001-2849, 2003-0234, 2004-0150, 2005-0762, 2006-0020, 2008-1229, 2008-1210, 2012-1138, 2004-0145, 2006-0596, 2008-1111, 2010-0870, 2013-1202, 2013-2300, 2013-2496); Swedish Brain Power, Hjärnfonden, Sweden (FO2016-0214, FO2018-0214, FO2019-0163); Alzheimer's Association Zenith Award (ZEN-01-3151); Alzheimer's Association Stephanie B. Overstreet Scholars (IIRG-00-2159); Alzheimer's Association (IIRG-03-6168, IIRG-09-131338); Bank of Sweden Tercentenary Foundation; Swedish state under the agreement between the Swedish government and the county councils, the ALF-agreement (ALFGBG-81392, ALFGBG-771071); Swedish Alzheimer Foundation (AF-842471, AF-737641, AF-939825); Swedish Research Council (2019-02075); Swedish Research Council (2016-01590); BRAINSCAPES: A Roadmap from Neurogenetics to Neurobiology (024.004.012); Swedish Research Council (2018-02532); Swedish State Support for Clinical Research (ALFGBG-720931); Alzheimer Drug Discovery Foundation (ADDF), USA (201809-2016862); UK Dementia Research Institute at UCL; Swedish Research Council (#2017-00915); Alzheimer Drug Discovery Foundation (ADDF), USA (#RDAPB-201809-2016615); Swedish Alzheimer Foundation (#AF-742881); Hjärnfonden, Sweden (#FO2017-0243); Swedish state under the agreement between the Swedish government and the County Councils, the ALF-agreement (#ALFGBG-715986); National Institute of Health (NIH), USA, (#1R01AG068398-01); Alzheimer's Association 2021 Zenith Award (ZEN-21-848495); National Institutes of Health (R01AG044546, R01AG064877, RF1AG053303, R01AG058501, U01AG058922, RF1AG058501, R01AG064614); Chuck Zuckerberg Initiative (CZI).
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	GWAS ; Alzheimer's disease ; Cerebrospinal fuid ; Amyloid-beta ; Tau
Publicat a:	Acta Neuropathologica, Vol. 144 Núm. 5 (november 2022) , p. 821-842, ISSN 1432-0533

DOI: 10.1007/s00401-022-02454-z
PMID: 36066633

22 p, 1.4 MB

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