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Whole-exome rare-va...
Whole-exome rare-variant analysis of Alzheimer's disease and related biomarker traits
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- Küçükali, Fahri (author)
- Complex Genetics of Alzheimer's Disease Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium
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- Neumann, Alexander (author)
- Complex Genetics of Alzheimer's Disease Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium
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- Van Dongen, Jasper (author)
- Complex Genetics of Alzheimer's Disease Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium
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- De Pooter, Tim (author)
- Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
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- Joris, Geert (author)
- Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
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- De Rijk, Peter (author)
- Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
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- Ohlei, Olena (author)
- Lübeck Interdisciplinary Platform for Genome Analytics (LIGA), University of Lübeck, Lübeck, Germany
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- Dobricic, Valerija (author)
- Lübeck Interdisciplinary Platform for Genome Analytics (LIGA), University of Lübeck, Lübeck, Germany
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- Bos, Isabelle (author)
- Netherlands Institute for Health Services Research, Utrecht, Netherlands
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- Vos, Stephanie J. B. (author)
- Alzheimer Centrum Limburg, Maastricht University, Maastricht, Netherlands
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- Engelborghs, Sebastiaan (author)
- Department 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
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- De Roeck, Ellen (author)
- Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Department of Neurology and Memory Clinic, Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken, Antwerp, Belgium
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- Vandenberghe, Rik (author)
- University Hospital Leuven, Leuven, Belgium; Department of Neurosciences, Laboratory for Cognitive Neurology, KU Leuven, Leuven, Belgium
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- Gabel, Silvy (author)
- University Hospital Leuven, Leuven, Belgium; Department of Neurosciences, Laboratory for Cognitive Neurology, KU Leuven, Leuven, Belgium
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- Meersmans, Karen (author)
- University Hospital Leuven, Leuven, Belgium; Department of Neurosciences, Laboratory for Cognitive Neurology, KU Leuven, Leuven, Belgium
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- Tsolaki, Magda (author)
- 1st Department of Neurology, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Makedonia, Thessaloniki, Greece
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- Verhey, Frans (author)
- Alzheimer 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
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- Martinez-Lage, Pablo (author)
- Center for Research and Advanced Therapies, CITA-Alzheimer Foundation, San Sebastian, Spain
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- Tainta, Mikel (author)
- Center for Research and Advanced Therapies, CITA-Alzheimer Foundation, San Sebastian, Spain
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- Frisoni, Giovanni (author)
- Department of Psychiatry, Faculty of Medicine, Geneva University Hospitals, Geneva, Switzerland; RCCS Instituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy
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- Blin, Oliver (author)
- Clinical Pharmacology & Pharmacovigilance Department, Marseille University Hospital, Marseille, France
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- Richardson, Jill C. (author)
- Neurosciences Therapeutic Area, GlaxoSmithKline R&D, Stevanage, United Kingdom
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- Bordet, Régis (author)
- Neuroscience & Cognition, CHU de Lille, University of Lille, Inserm, France
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- Scheltens, Philip (author)
- Alzheimer Center and Department of Neurology, VU University Medical Center, Amsterdam, Netherlands; Alzheimer's Disease Neuroimaging Initiative (ADNI)
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- Popp, Julius (author)
- Department of Geriatric Psychiatry, University Hospital of Psychiatry Zürich, Zürich, Switzerland; Department of Psychiatry, Old Age Psychiatry, University Hospital of Lausanne, Lausanne, Switzerland
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- Peyratout, Gwendoline (author)
- Department of Psychiatry, University Hospital of Lausanne, Lausanne, Switzerland
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- Johannsen, Peter (author)
- Clinical Drug Development, Novo Nordisk, Copenhagen, Denmark
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- Frölich, Lutz (author)
- Department of Geriatric Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany
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- Freund-Levi, Yvonne, 1956- (author)
- 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
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- Streffer, Johannes (author)
- Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium
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- Lovestone, Simon (author)
- Department of Psychiatry, University of Oxford, Oxford, United Kingdom; Janssen Medical Ltd, High Wycombe, United Kingdom
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- Legido-Quigley, Cristina (author)
- Steno Diabetes Center, Copenhagen, Denmark; Institute of Pharmaceutical Sciences, King's College London, London, United Kingdom
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- Kate, Mara Ten (author)
- Alzheimer Center and Department of Neurology, VU University Medical Center, Amsterdam, Netherlands; Department of Radiology and Nuclear Medicine, VU University Medical Center, Amsterdam, Netherlands
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- Barkhof, Frederik (author)
- Department 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
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- Zetterberg, Henrik, 1973 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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- Bertram, Lars (author)
- Lübeck Interdisciplinary Platform for Genome Analytics (LIGA), University of Lübeck, Lübeck, Germany; Centre for Lifespan Changes in Brain and Cognition, University of Oslo, Oslo, Norway
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- Strazisar, Mojca (author)
- Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
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- Visser, Pieter Jelle (author)
- Alzheimer Centrum Limburg, Maastricht University, Maastricht, Netherlands; Alzheimer Center and Department of Neurology, VU University Medical Center, Amsterdam, Netherlands
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- Van Broeckhoven, Christine (author)
- Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
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- Sleegers, Kristel (author)
- Complex Genetics of Alzheimer's Disease Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium
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EMIF-AD Study Group, - (contributor)
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(creator_code:org_t)
- 2022-12-04
- 2023
- English.
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In: Alzheimer's & Dementia. - : John Wiley & Sons. - 1552-5260 .- 1552-5279. ; 19:6, s. 2317-2331
- Related links:
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https://doi.org/10.1...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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https://gup.ub.gu.se...
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Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Keyword
- Alzheimer's disease
- biomarkers
- endophenotypes
- rare coding variants
- whole-exome sequencing
- Alzheimer's disease
- biomarkers
- endophenotypes
- rare coding variants
- whole-exome sequencing
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Küçükali, Fahri
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Neumann, Alexand ...
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Van Dongen, Jasp ...
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De Pooter, Tim
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Joris, Geert
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De Rijk, Peter
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show more...
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Ohlei, Olena
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Dobricic, Valeri ...
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Bos, Isabelle
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Vos, Stephanie J ...
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Engelborghs, Seb ...
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De Roeck, Ellen
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Vandenberghe, Ri ...
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Gabel, Silvy
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Meersmans, Karen
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Tsolaki, Magda
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Verhey, Frans
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Martinez-Lage, P ...
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Tainta, Mikel
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Frisoni, Giovann ...
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Blin, Oliver
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Richardson, Jill ...
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Bordet, Régis
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Scheltens, Phili ...
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Popp, Julius
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Peyratout, Gwend ...
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Johannsen, Peter
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Frölich, Lutz
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Freund-Levi, Yvo ...
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Streffer, Johann ...
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Lovestone, Simon
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Legido-Quigley, ...
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Kate, Mara Ten
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Barkhof, Frederi ...
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Zetterberg, Henr ...
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Bertram, Lars
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Strazisar, Mojca
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Visser, Pieter J ...
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Van Broeckhoven, ...
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Sleegers, Kriste ...
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EMIF-AD Study Gr ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Neurosciences
- Articles in the publication
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Alzheimer's & De ...
- By the university
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Örebro University
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Karolinska Institutet
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University of Gothenburg