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Sökning: WFRF:(De Roeck Ellen) > Frölich Lutz > (2023) > Whole-exome rare-va...

  • Küçükali, FahriComplex Genetics of Alzheimer's Disease Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium (författare)

Whole-exome rare-variant analysis of Alzheimer's disease and related biomarker traits

  • Artikel/kapitelEngelska2023

Förlag, utgivningsår, omfång ...

  • 2022-12-04
  • John Wiley & Sons,2023
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:oru-102658
  • https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-102658URI
  • https://doi.org/10.1002/alz.12842DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:151665206URI
  • https://gup.ub.gu.se/publication/322025URI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

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Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • Funding agencies:European Medical Information Framework for Alzheimer's Disease (EMIF-AD)Innovative Medicines Initiative Joint Undertaking under the European Medical Information Framework (EMIF) 115372European Prevention of Alzheimer's Dementia (EPAD) 115736European Commission 860197  European Federation of Pharmaceutical Industries and Association (EFPIA) - European Commission within the fifth framework program QLRT-2001-2455European Commission within the fifth framework program 37670Department of Health of the Basque Government (allocation) 17.0.1.08.12.0000.2.454.01.41142.001Stichting voor Alzheimer Onderzoek 11020 13007 15005 Swiss National Science Foundation (SNSF) SNF 320030_141179  Synapsis Foundation - Alzheimer Research Switzerland 2017-PI01University of Antwerp Research FundEuropean Commission European Research Council (ERC) 681712  Swedish State Support for Clinical Research ALFGBG-720931Alzheimer Drug Discovery Foundation (ADDF), USA 201809-2016862AD Strategic FundAlzheimer's AssociationOlav Thon FoundationErling-Persson Family FoundationUK Dementia Research Institute at University College LondonNational Institute for Health and Care Research (NIHR) biomedical research centre at University College London Hospitals (UCLH)Instituto de Salud Carlos IIIDemensfonden, StockholmUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA U01 AG024904  DOD ADNI (Department of Defense) W81XWH-12-2-0012 United States Department of Health & Human ServicesNIH National Institute on Aging (NIA) United States Department of Health & Human ServicesNIH National Institute of Biomedical Imaging & Bioengineering (NIBIB)Alzheimer's Drug Discovery FoundationAraclon BiotechBiogenBristol-Myers SquibbCereSpir, Inc.CogState LimitedElan Pharmaceuticals, Inc.Eli LillyEuroImmunHoffmann-La RocheFujirebioJohnson & Johnson USAMerck & CompanyMeso Scale DiagnosticsNeuroRx ResearchNovartisPiramal ImagingTakeda Pharmaceutical Company LtdCanadian Institutes of Health Research (CIHR)ADNI clinical sites in CanadaUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA Northern California Institute for Research and EducationLaboratory for Neuro Imaging at the University of Southern CaliforniaNIH National Institute of Neurological Disorders & Stroke (NINDS) U01 AG024904  NIH National Institute on Aging (NIA)NIH National Institute of Biomedical Imaging & Bioengineering (NIBIB)AbbVieCogState LimitedHoffmann-La RocheRoche HoldingGenentechGeneral ElectricGE HealthcareIXICO Ltd.LumosityLundbeck CorporationNeuroRx Research; Neurotrack TechnologiesPfizer Inc.Piramal ImagingServierTransition TherapeuticsDNI clinical sites in Canada
  • INTRODUCTION: Despite increasing evidence of a role of rare genetic variation in the risk of Alzheimer's disease (AD), limited attention has been paid to its contribution to AD-related biomarker traits indicative of AD-relevant pathophysiological processes.METHODS: We performed whole-exome gene-based rare-variant association studies (RVASs) of 17 AD-related traits on whole-exome sequencing (WES) data generated in the European Medical Information Framework for Alzheimer's Disease Multimodal Biomarker Discovery (EMIF-AD MBD) study (n = 450) and whole-genome sequencing (WGS) data from ADNI (n = 808).RESULTS: Mutation screening revealed a novel probably pathogenic mutation (PSEN1 p.Leu232Phe). Gene-based RVAS revealed the exome-wide significant contribution of rare coding variation in RBKS and OR7A10 to cognitive performance and protection against left hippocampal atrophy, respectively.DISCUSSION: The identification of these novel gene-trait associations offers new perspectives into the role of rare coding variation in the distinct pathophysiological processes culminating in AD, which may lead to identification of novel therapeutic and diagnostic targets.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Neumann, AlexanderComplex Genetics of Alzheimer's Disease Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium (författare)
  • Van Dongen, JasperComplex Genetics of Alzheimer's Disease Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium (författare)
  • De Pooter, TimDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium (författare)
  • Joris, GeertDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium (författare)
  • De Rijk, PeterDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium (författare)
  • Ohlei, OlenaLübeck Interdisciplinary Platform for Genome Analytics (LIGA), University of Lübeck, Lübeck, Germany (författare)
  • Dobricic, ValerijaLübeck Interdisciplinary Platform for Genome Analytics (LIGA), University of Lübeck, Lübeck, Germany (författare)
  • Bos, IsabelleNetherlands Institute for Health Services Research, Utrecht, Netherlands (författare)
  • Vos, Stephanie J. B.Alzheimer Centrum Limburg, Maastricht University, Maastricht, Netherlands (författare)
  • Engelborghs, SebastiaanDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Department of Neurology and Brussels Integrated Center for Brain and Memory (Bru-BRAIN), Universitair Ziekenhuis Brussel (UZ Brussel) and Center for Neurosciences (C4N), Vrije Universiteit Brussel (VUB), Brussels, Belgium (författare)
  • De Roeck, EllenDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Department of Neurology and Memory Clinic, Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken, Antwerp, Belgium (författare)
  • Vandenberghe, RikUniversity Hospital Leuven, Leuven, Belgium; Department of Neurosciences, Laboratory for Cognitive Neurology, KU Leuven, Leuven, Belgium (författare)
  • Gabel, SilvyUniversity Hospital Leuven, Leuven, Belgium; Department of Neurosciences, Laboratory for Cognitive Neurology, KU Leuven, Leuven, Belgium (författare)
  • Meersmans, KarenUniversity Hospital Leuven, Leuven, Belgium; Department of Neurosciences, Laboratory for Cognitive Neurology, KU Leuven, Leuven, Belgium (författare)
  • Tsolaki, Magda1st Department of Neurology, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Makedonia, Thessaloniki, Greece (författare)
  • Verhey, FransAlzheimer Centrum Limburg, Maastricht University, Maastricht, Netherlands; Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, Netherlands; School for Mental Health and Neuroscience, Maastricht University, Maastricht, Netherlands (författare)
  • Martinez-Lage, PabloCenter for Research and Advanced Therapies, CITA-Alzheimer Foundation, San Sebastian, Spain (författare)
  • Tainta, MikelCenter for Research and Advanced Therapies, CITA-Alzheimer Foundation, San Sebastian, Spain (författare)
  • Frisoni, GiovanniDepartment of Psychiatry, Faculty of Medicine, Geneva University Hospitals, Geneva, Switzerland; RCCS Instituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy (författare)
  • Blin, OliverClinical Pharmacology & Pharmacovigilance Department, Marseille University Hospital, Marseille, France (författare)
  • Richardson, Jill C.Neurosciences Therapeutic Area, GlaxoSmithKline R&D, Stevanage, United Kingdom (författare)
  • Bordet, RégisNeuroscience & Cognition, CHU de Lille, University of Lille, Inserm, France (författare)
  • Scheltens, PhilipAlzheimer Center and Department of Neurology, VU University Medical Center, Amsterdam, Netherlands; Alzheimer's Disease Neuroimaging Initiative (ADNI) (författare)
  • Popp, JuliusDepartment of Geriatric Psychiatry, University Hospital of Psychiatry Zürich, Zürich, Switzerland; Department of Psychiatry, Old Age Psychiatry, University Hospital of Lausanne, Lausanne, Switzerland (författare)
  • Peyratout, GwendolineDepartment of Psychiatry, University Hospital of Lausanne, Lausanne, Switzerland (författare)
  • Johannsen, PeterClinical Drug Development, Novo Nordisk, Copenhagen, Denmark (författare)
  • Frölich, LutzDepartment of Geriatric Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany (författare)
  • Freund-Levi, Yvonne,1956-Karolinska Institutet,Örebro universitet,Institutionen för medicinska vetenskaper,Departments of Geriatrics, University Hospital Örebro, Örebro, Sweden; Department of Clinical Science and Education, Södertälje Hospital, Södersjukhuset Karolinska Institutet, Stockholm, Sweden(Swepub:oru)yfi (författare)
  • Streffer, JohannesDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium (författare)
  • Lovestone, SimonDepartment of Psychiatry, University of Oxford, Oxford, United Kingdom; Janssen Medical Ltd, High Wycombe, United Kingdom (författare)
  • Legido-Quigley, CristinaSteno Diabetes Center, Copenhagen, Denmark; Institute of Pharmaceutical Sciences, King's College London, London, United Kingdom (författare)
  • Kate, Mara TenAlzheimer Center and Department of Neurology, VU University Medical Center, Amsterdam, Netherlands; Department of Radiology and Nuclear Medicine, VU University Medical Center, Amsterdam, Netherlands (författare)
  • Barkhof, FrederikDepartment of Radiology and Nuclear Medicine, VU University Medical Center, Amsterdam, Netherlands; Queen Square Institute of Neurology and Centre for Medical Image Computing, University College London, London, United Kingdom (författare)
  • Zetterberg, Henrik,1973Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry(Swepub:gu)xzethe (författare)
  • Bertram, LarsLübeck Interdisciplinary Platform for Genome Analytics (LIGA), University of Lübeck, Lübeck, Germany; Centre for Lifespan Changes in Brain and Cognition, University of Oslo, Oslo, Norway (författare)
  • Strazisar, MojcaDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium (författare)
  • Visser, Pieter JelleAlzheimer Centrum Limburg, Maastricht University, Maastricht, Netherlands; Alzheimer Center and Department of Neurology, VU University Medical Center, Amsterdam, Netherlands (författare)
  • Van Broeckhoven, ChristineDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium (författare)
  • Sleegers, KristelComplex Genetics of Alzheimer's Disease Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium (författare)
  • EMIF-AD Study Group, - (bidragsgivare)
  • Complex Genetics of Alzheimer's Disease Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, BelgiumDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Alzheimer's & Dementia: John Wiley & Sons19:6, s. 2317-23311552-52601552-5279

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