Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.

Adaptor Proteins, Signal Transducing / genetics Alzheimer Disease / genetics Case-Control Studies Gene Expression Profiling Genetic Predisposition to Disease Genome, Human Genome-Wide Association Study Glucosylceramidase / genetics Humans Lewy Body Disease / genetics Nuclear Proteins / genetics Parkinson Disease / genetics Polymorphism, Single Nucleotide Tumor Suppressor Proteins / genetics alpha-Synuclein / genetics

Journal

Nature genetics
ISSN: 1546-1718
Titre abrégé: Nat Genet
Pays: United States
ID NLM: 9216904

Informations de publication

Date de publication:
03 2021
Historique:
received: 06 07 2020
accepted: 12 01 2021
pubmed: 17 2 2021
medline: 10 4 2021
entrez: 16 2 2021
Statut: ppublish

Résumé

The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer's disease and Parkinson's disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition.

Identifiants

DOI: 10.1038/s41588-021-00785-3 PMID: 33589841 PMC: PMC7946812
pubmed: 33589841
doi: 10.1038/s41588-021-00785-3
pii: 10.1038/s41588-021-00785-3
pmc: PMC7946812
mid: NIHMS1662931
doi:

Substances chimiques

Adaptor Proteins, Signal Transducing 0
BIN1 protein, human 0
Nuclear Proteins 0
SNCA protein, human 0
Tumor Suppressor Proteins 0
alpha-Synuclein 0
GBA protein, human EC 3.2.1.45
Glucosylceramidase EC 3.2.1.45

Types de publication

Journal Article Multicenter Study Research Support, N.I.H., Intramural

Langues

eng

Sous-ensembles de citation

IM

Pagination

294-303

Subventions

Organisme : NIA NIH HHS
ID : P30 AG013854
Pays : United States
Organisme : NIA NIH HHS
ID : K08 AG065463
Pays : United States
Organisme : NIA NIH HHS
ID : P30 AG066507
Pays : United States
Organisme : NIA NIH HHS
ID : U24 AG021886
Pays : United States
Organisme : Medical Research Council
ID : MR/L016397/1
Pays : United Kingdom
Organisme : NINDS NIH HHS
ID : U24 NS095871
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG017917
Pays : United States
Organisme : Medical Research Council
ID : MR/N008324/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : G1100540
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0400074
Pays : United Kingdom
Organisme : NINDS NIH HHS
ID : U01 NS095736
Pays : United States
Organisme : Medical Research Council
ID : MR/L023784/2
Pays : United Kingdom
Organisme : NINDS NIH HHS
ID : U01 NS100620
Pays : United States
Organisme : NIA NIH HHS
ID : P30 AG010161
Pays : United States
Organisme : Intramural NIH HHS
ID : ZIA NS003033
Pays : United States
Organisme : Intramural NIH HHS
ID : ZIA AG000935
Pays : United States
Organisme : Medical Research Council
ID : G0900652
Pays : United Kingdom
Organisme : NIA NIH HHS
ID : P30 AG072977
Pays : United States
Organisme : NIA NIH HHS
ID : U19 AG062418
Pays : United States
Organisme : Intramural NIH HHS
ID : ZIA NS003154
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS115144
Pays : United States
Organisme : Medical Research Council
ID : G0502157
Pays : United Kingdom
Organisme : NIA NIH HHS
ID : R01 AG015819
Pays : United States

Investigateurs

Anthony R Sotis (AR)
Gauthaman Sukumar (G)
Camille Alba (C)
Nathaniel Lott (N)
Elisa McGrath Martinez (EM)
Meila Tuck (M)
Jatinder Singh (J)
Dagmar Bacikova (D)
Xijun Zhang (X)
Daniel N Hupalo (DN)
Adelani Adeleye (A)
Matthew D Wilkerson (MD)
Harvey B Pollard (HB)

Commentaires et corrections

Type : CommentIn

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Auteurs

Ruth Chia (R)

Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.

Marya S Sabir (MS)

Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.

Sara Bandres-Ciga (S)

Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.

Sara Saez-Atienzar (S)

Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.

Regina H Reynolds (RH)

Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.
Great Ormond Street Institute of Child Health, Genetics and Genomic Medicine, University College London, London, UK.
ORCID: 0000-0001-6470-7919

Emil Gustavsson (E)

NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.
Great Ormond Street Institute of Child Health, Genetics and Genomic Medicine, University College London, London, UK.
ORCID: 0000-0003-0541-7537

Ronald L Walton (RL)

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.

Sarah Ahmed (S)

Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.

Coralie Viollet (C)

Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.
Henry M. Jackson Foundation for the Advancement of Military Medicine, Inc., Bethesda, MD, USA.

Jinhui Ding (J)

Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.

Mary B Makarious (MB)

Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.

Monica Diez-Fairen (M)

Memory and Movement Disorders Units, Department of Neurology, University Hospital Mutua de Terrassa, Barcelona, Spain.
ORCID: 0000-0003-1882-0309

Makayla K Portley (MK)

Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.
ORCID: 0000-0003-2866-9198

Zalak Shah (Z)

Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.

Yevgeniya Abramzon (Y)

Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London, UK.

Dena G Hernandez (DG)

Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.

Cornelis Blauwendraat (C)

Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
ORCID: 0000-0001-9358-8111

David J Stone (DJ)

Cerevel Therapeutics, Boston, MA, USA.

John Eicher (J)

Genetics and Pharmacogenomics, Merck & Co., Inc., West Point, PA, USA.

Laura Parkkinen (L)

Nuffield Department of Clinical Neurosciences, Oxford Parkinson's Disease Centre, University of Oxford, Oxford, UK.
ORCID: 0000-0002-3392-8564

Olaf Ansorge (O)

Nuffield Department of Clinical Neurosciences, Oxford Parkinson's Disease Centre, University of Oxford, Oxford, UK.

Lorraine Clark (L)

Taub Institute for Alzheimer Disease and the Aging Brain, and Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.

Lawrence S Honig (LS)

Taub Institute for Alzheimer Disease and the Aging Brain, G. H. Sergievsky Center and Department of Neurology, Columbia University, New York, NY, USA.

Karen Marder (K)

Taub Institute for Alzheimer Disease and the Aging Brain, G. H. Sergievsky Center and Department of Neurology, Columbia University, New York, NY, USA.

Afina Lemstra (A)

Department of Neurology and Alzheimer Center, Neuroscience Campus Amsterdam, Amsterdam, the Netherlands.

Peter St George-Hyslop (P)

Department of Clinical Neurosciences, Cambridge Institute of Medical Research, University of Cambridge, Cambridge, UK.
Department of Medicine, University of Toronto, Toronto, Ontario, Canada.
ORCID: 0000-0003-0796-7209

Elisabet Londos (E)

Clinical Memory Research Unit, Institution of Clinical Sciences Malmo, Lund University, Lund, Sweden.

Kevin Morgan (K)

Human Genetics, School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK.
ORCID: 0000-0002-8217-2396

Tammaryn Lashley (T)

Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Queen Square Brain Bank for Neurological Disorders, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.

Thomas T Warner (TT)

Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London, UK.
Queen Square Brain Bank for Neurological Disorders, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.

Zane Jaunmuktane (Z)

Queen Square Brain Bank for Neurological Disorders, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.

Douglas Galasko (D)

Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA.
Veterans Affairs San Diego Healthcare System, La Jolla, CA, USA.

Isabel Santana (I)

Neurology Service, University of Coimbra Hospital, Coimbra, Portugal.
Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Center for Innovative Biomedicine and Biotechnology, University of Coimbra, Coimbra, Portugal.

Pentti J Tienari (PJ)

Translational Immunology, Research Programs Unit, University of Helsinki, Helsinki, Finland.
Department of Neurology, Helsinki University Hospital, Helsinki, Finland.
ORCID: 0000-0001-5686-2900

Liisa Myllykangas (L)

Department of Pathology, Medicum, University of Helsinki, Helsinki, Finland.
HUS Diagnostic Center, Helsinki University Hospital, Helsinki, Finland.

Minna Oinas (M)

Department of Clinical Medicine, Faculty of Health, UiT The Arctic University of Norway, Tromsø, Norway.
ORCID: 0000-0002-6150-091X

Nigel J Cairns (NJ)

Knight Alzheimer's Disease Research Center, Department of Neurology, Washington University School of Medicine, Saint Louis, MO, USA.
ORCID: 0000-0001-9858-3344

John C Morris (JC)

Knight Alzheimer's Disease Research Center, Department of Neurology, Washington University School of Medicine, Saint Louis, MO, USA.

Glenda M Halliday (GM)

Neuroscience Research Australia, Sydney, New South Wales, Australia.
School of Medical Sciences, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.
Brain and Mind Centre, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
ORCID: 0000-0003-0422-8398

Vivianna M Van Deerlin (VM)

Department of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
ORCID: 0000-0002-7400-9097

John Q Trojanowski (JQ)

Department of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
ORCID: 0000-0002-9239-8794

Maurizio Grassano (M)

Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
Rita Levi Montalcini Department of Neuroscience, University of Turin, Turin, Italy.

Andrea Calvo (A)

Rita Levi Montalcini Department of Neuroscience, University of Turin, Turin, Italy.
Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy.
ORCID: 0000-0002-5122-7243

Gabriele Mora (G)

Istituti Clinici Scientifici Maugeri, IRCCS, Milan, Italy.

Antonio Canosa (A)

Rita Levi Montalcini Department of Neuroscience, University of Turin, Turin, Italy.
Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy.

Gianluca Floris (G)

Department of Neurology, University Hospital of Cagliari, Cagliari, Italy.

Ryan C Bohannan (RC)

Department of Neurobiology and Behavior, University of California Irvine, Irvine, CA, USA.

Francesca Brett (F)

Dublin Brain Bank, Neuropathology Department, Beaumont Hospital, Dublin, Ireland.

Ziv Gan-Or (Z)

Montreal Neurological Institute and Hospital, Department of Neurology & Neurosurgery, McGill University, Montreal, Quebec, Canada.
ORCID: 0000-0003-0332-234X

Joshua T Geiger (JT)

Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.

Anni Moore (A)

Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.

Patrick May (P)

Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
ORCID: 0000-0001-8698-3770

Rejko Krüger (R)

Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Transversal Translational Medicine, Luxembourg Institute of Health, Strassen, Luxembourg.
Parkinson Research Clinic, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg.

David S Goldstein (DS)

Clinical Neurocardiology Section, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.

Grisel Lopez (G)

Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.

Nahid Tayebi (N)

Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.
ORCID: 0000-0002-1007-4957

Ellen Sidransky (E)

Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.

Lucy Norcliffe-Kaufmann (L)

Department of Neurology, New York University School of Medicine, New York, NY, USA.

Jose-Alberto Palma (JA)

Department of Neurology, New York University School of Medicine, New York, NY, USA.

Horacio Kaufmann (H)

Department of Neurology, New York University School of Medicine, New York, NY, USA.
ORCID: 0000-0002-1851-9981

Vikram G Shakkottai (VG)

Department of Neurology, University of Michigan Medical School, Ann Arbor, MI, USA.
ORCID: 0000-0003-2742-6469

Matthew Perkins (M)

Michigan Brain Bank, University of Michigan Medical School, Ann Arbor, MI, USA.
ORCID: 0000-0001-7715-0638

Kathy L Newell (KL)

Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.

Thomas Gasser (T)

Department of Neurodegenerative Diseases, Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen and German Center for Neurodegenerative Diseases, Tübingen, Germany.

Claudia Schulte (C)

Department of Neurodegenerative Diseases, Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen and German Center for Neurodegenerative Diseases, Tübingen, Germany.

Francesco Landi (F)

Fondazione Policlinico Universitario Agostino Gemelli IRCCS Università Cattolica del Sacro Cuore, Rome, Italy.

Erika Salvi (E)

Neuroalgology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Daniele Cusi (D)

Bio4Dreams-Business Nursery for Life, Milan, Italy.
ORCID: 0000-0002-1006-7597

Eliezer Masliah (E)

Molecular Neuropathology Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.

Ronald C Kim (RC)

Department of Neuropathology, School of Medicine, University of California Irvine, Irvine, CA, USA.

Chad A Caraway (CA)

Institute for Memory Impairments and Neurological Disorders, University of California Irvine, Irvine, CA, USA.

Edwin S Monuki (ES)

Department of Pathology & Laboratory Medicine, School of Medicine, University of California Irvine, Irvine, CA, USA.

Maura Brunetti (M)

Rita Levi Montalcini Department of Neuroscience, University of Turin, Turin, Italy.

Ted M Dawson (TM)

Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, USA.
Neuroregeneration and Stem Cell Programs, Institute of Cell Engineering, Johns Hopkins University Medical Center, Baltimore, MD, USA.
Department of Pharmacology and Molecular Science, Johns Hopkins University Medical Center, Baltimore, MD, USA.
Solomon H. Snyder Department of Neuroscience, Johns Hopkins University Medical Center, Baltimore, MD, USA.

Liana S Rosenthal (LS)

Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, USA.

Marilyn S Albert (MS)

Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, USA.

Olga Pletnikova (O)

Department of Pathology (Neuropathology), Johns Hopkins University Medical Center, Baltimore, MD, USA.
Department of Pathology and Anatomical Sciences, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY, USA.

Juan C Troncoso (JC)

Department of Pathology (Neuropathology), Johns Hopkins University Medical Center, Baltimore, MD, USA.

Margaret E Flanagan (ME)

Mesulam Center for Cognitive Neurology and Alzheimer's Disease, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

Qinwen Mao (Q)

Mesulam Center for Cognitive Neurology and Alzheimer's Disease, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
ORCID: 0000-0001-7876-2046

Eileen H Bigio (EH)

Mesulam Center for Cognitive Neurology and Alzheimer's Disease, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

Eloy Rodríguez-Rodríguez (E)

Neurology Service, University Hospital Marqués de Valdecilla-IDIVAL-UC-CIBERNED, Santander, Spain.
ORCID: 0000-0001-7742-677X

Jon Infante (J)

Neurology Service, University Hospital Marqués de Valdecilla-IDIVAL-UC-CIBERNED, Santander, Spain.

Carmen Lage (C)

Neurology Service, University Hospital Marqués de Valdecilla-IDIVAL-UC-CIBERNED, Santander, Spain.

Isabel González-Aramburu (I)

Neurology Service, University Hospital Marqués de Valdecilla-IDIVAL-UC-CIBERNED, Santander, Spain.

Pascual Sanchez-Juan (P)

Neurology Service, University Hospital Marqués de Valdecilla-IDIVAL-UC-CIBERNED, Santander, Spain.
ORCID: 0000-0002-6081-8037

Bernardino Ghetti (B)

Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.

Julia Keith (J)

Department of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Ontario, Canada.

Sandra E Black (SE)

Institute of Medical Science, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.
Heart and Stroke Foundation Canadian Partnership for Stroke Recovery, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Ontario, Canada.
Hurvitz Brain Sciences Research Program, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada.
LC Campbell Cognitive Neurology Research Unit, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada.
ORCID: 0000-0001-7093-8289

Mario Masellis (M)

Hurvitz Brain Sciences Research Program, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada.
LC Campbell Cognitive Neurology Research Unit, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada.
Cognitive & Movement Disorders Clinic, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Ontario, Canada.
Department of Medicine, Division of Neurology, University of Toronto, Toronto, Ontario, Canada.

Ekaterina Rogaeva (E)

Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.

Charles Duyckaerts (C)

Department of Neuropathology Escourolle, Paris Brain Institute, Sorbonne Universités, Paris, France.
Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Hôpital Pitié-Salpêtrière, DMU Neuroscience 6, Paris, France.

Alexis Brice (A)

Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Hôpital Pitié-Salpêtrière, DMU Neuroscience 6, Paris, France.

Suzanne Lesage (S)

Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Hôpital Pitié-Salpêtrière, DMU Neuroscience 6, Paris, France.

Georgia Xiromerisiou (G)

Department of Neurology, University Hospital of Larissa, University of Thessalia, Larissa, Greece.

Matthew J Barrett (MJ)

Department of Neurology, Virginia Commonwealth University, Richmond, VA, USA.

Bension S Tilley (BS)

Neuropathology Unit, Department of Brain Sciences, Imperial College London, London, UK.

Steve Gentleman (S)

Neuropathology Unit, Department of Brain Sciences, Imperial College London, London, UK.

Giancarlo Logroscino (G)

Department of Basic Medicine Neurosciences and Sense Organs, University Aldo Moro, Bari, Italy.
Center for Neurodegenerative Diseases and the Aging Brain - Department of Clinical Research in Neurology of the University of Bari at 'Pia Fondazione Card G. Panico' Hospital Tricase (Le), Bari, Italy.

Geidy E Serrano (GE)

Civin Laboratory for Neuropathology, Banner Sun Health Research Institute, Sun City, AZ, USA.

Thomas G Beach (TG)

Civin Laboratory for Neuropathology, Banner Sun Health Research Institute, Sun City, AZ, USA.

Ian G McKeith (IG)

Newcastle Brain Tissue Resource, Translational and Clinical Research Institute, Biomedical Research Building, Newcastle University, Newcastle upon Tyne, UK.

Alan J Thomas (AJ)

Newcastle Brain Tissue Resource, Translational and Clinical Research Institute, Biomedical Research Building, Newcastle University, Newcastle upon Tyne, UK.

Johannes Attems (J)

Newcastle Brain Tissue Resource, Translational and Clinical Research Institute, Biomedical Research Building, Newcastle University, Newcastle upon Tyne, UK.

Christopher M Morris (CM)

Newcastle Brain Tissue Resource, Translational and Clinical Research Institute, Biomedical Research Building, Newcastle University, Newcastle upon Tyne, UK.

Laura Palmer (L)

South West Dementia Brain Bank, Bristol Medical School, University of Bristol, Bristol, UK.

Seth Love (S)

Dementia Research Group, Bristol Medical School, University of Bristol, Bristol, UK.

Claire Troakes (C)

Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
ORCID: 0000-0002-1790-7376

Safa Al-Sarraj (S)

Department of Clinical Neuropathology and London Neurodegenerative Diseases Brain Bank, Institute of Psychiatry, Psychology and Neuroscience, King's College Hospital and King's College London, London, UK.

Angela K Hodges (AK)

Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
ORCID: 0000-0002-5565-6678

Dag Aarsland (D)

Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Centre for Age-Related Medicine, Stavanger University Hospital, Stavanger, Norway.

Gregory Klein (G)

Rush Alzheimer's Disease Center, Rush University, Chicago, IL, USA.

Scott M Kaiser (SM)

Department of Neuropathology, Indiana University School of Medicine, Indianapolis, IN, USA.

Randy Woltjer (R)

Department of Neurology, Oregon Health & Sciences University, Portland, OR, USA.

Pau Pastor (P)

Memory and Movement Disorders Units, Department of Neurology, University Hospital Mutua de Terrassa, Barcelona, Spain.
ORCID: 0000-0002-7493-8777

Lynn M Bekris (LM)

Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.

James B Leverenz (JB)

Cleveland Lou Ruvo Center for Brain Health, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA.

Lilah M Besser (LM)

Institute for Human Health and Disease Intervention, Florida Atlantic University, Boca Raton, FL, USA.

Amanda Kuzma (A)

Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Alan E Renton (AE)

Ronald M. Loeb Center for Alzheimer's Disease, Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
ORCID: 0000-0001-6702-8268

Alison Goate (A)

Ronald M. Loeb Center for Alzheimer's Disease, Nash Family Department of Neuroscience, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
ORCID: 0000-0002-0576-2472

David A Bennett (DA)

Rush Alzheimer's Disease Center, Rush University, Chicago, IL, USA.

Clemens R Scherzer (CR)

Precision Neurology Program, Brigham & Women's Hospital, Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0002-0567-9193

Huw R Morris (HR)

Department of Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology, University College London, London, UK.
ORCID: 0000-0002-5473-3774

Raffaele Ferrari (R)

Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.

Diego Albani (D)

Department of Neuroscience, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan, Italy.
ORCID: 0000-0002-7050-6723

Stuart Pickering-Brown (S)

Division of Neuroscience and Experimental Psychology, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.
ORCID: 0000-0003-1561-6054

Kelley Faber (K)

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.

Walter A Kukull (WA)

National Alzheimer's Coordinating Center, Department of Epidemiology, University of Washington, Seattle, WA, USA.

Estrella Morenas-Rodriguez (E)

Biomedizinisches Centrum, Biochemie, Ludwig-Maximilians-Universität München & Deutsches Zentrum für Neurodegenerative Erkrankungen, Munich, Germany.
Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
The Network Center for Biomedical Research in Neurodegenerative Diseases, Madrid, Spain.

Alberto Lleó (A)

Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
The Network Center for Biomedical Research in Neurodegenerative Diseases, Madrid, Spain.

Juan Fortea (J)

Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
The Network Center for Biomedical Research in Neurodegenerative Diseases, Madrid, Spain.

Daniel Alcolea (D)

Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
The Network Center for Biomedical Research in Neurodegenerative Diseases, Madrid, Spain.
ORCID: 0000-0002-3819-3245

Jordi Clarimon (J)

Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
The Network Center for Biomedical Research in Neurodegenerative Diseases, Madrid, Spain.

Mike A Nalls (MA)

Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
Data Tecnica International, Glen Echo, MD, USA.
Center for Alzheimer's and Related Dementias, National Institute on Aging, Bethesda, MD, USA.

Luigi Ferrucci (L)

Longitudinal Studies Section, National Institute on Aging, Baltimore, MD, USA.
ORCID: 0000-0002-6273-1613

Susan M Resnick (SM)

Laboratory of Behavioral Neuroscience, National Institute on Aging, Baltimore, MD, USA.

Toshiko Tanaka (T)

Longitudinal Studies Section, National Institute on Aging, Baltimore, MD, USA.

Tatiana M Foroud (TM)

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
ORCID: 0000-0002-5549-2212

Neill R Graff-Radford (NR)

Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.

Zbigniew K Wszolek (ZK)

Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.

Tanis Ferman (T)

Department of Psychiatry and Psychology, Mayo Clinic, Jacksonville, FL, USA.

Bradley F Boeve (BF)

Department of Neurology, Mayo Clinic, Rochester, MN, USA.

John A Hardy (JA)

Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London, UK.
UK Dementia Research Institute of UCL, UCL Institute of Neurology, University College London, London, UK.
UCL Movement Disorders Centre, University College London, London, UK.
Institute for Advanced Study, The Hong Kong University of Science and Technology, Hong Kong SAR, China.

Eric J Topol (EJ)

Scripps Research Translational Institute, Scripps Research, La Jolla, CA, USA.
ORCID: 0000-0002-1478-4729

Ali Torkamani (A)

Scripps Research Translational Institute, Scripps Research, La Jolla, CA, USA.

Andrew B Singleton (AB)

Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
Center for Alzheimer's and Related Dementias, National Institute on Aging, Bethesda, MD, USA.

Mina Ryten (M)

NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.
Great Ormond Street Institute of Child Health, Genetics and Genomic Medicine, University College London, London, UK.
ORCID: 0000-0001-9520-6957

Dennis W Dickson (DW)

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.

Adriano Chiò (A)

Rita Levi Montalcini Department of Neuroscience, University of Turin, Turin, Italy.
Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy.
Institute of Cognitive Sciences and Technologies, C.N.R., Rome, Italy.
ORCID: 0000-0001-9579-5341

Owen A Ross (OA)

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA.
ORCID: 0000-0003-4813-756X

J Raphael Gibbs (JR)

Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
ORCID: 0000-0002-6985-0658

Clifton L Dalgard (CL)

Department of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.
The American Genome Center, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.

Bryan J Traynor (BJ)

Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London, UK.
Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, USA.

Sonja W Scholz (SW)

Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA. sonja.scholz@nih.gov.
Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, USA. sonja.scholz@nih.gov.
ORCID: 0000-0002-6623-0429

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Classifications MeSH

questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Protéines adaptatrices de la transduction du signal › Genome sequencing analysis identifies new loci...
questionsmedicales.fr › Troubles mentaux › Troubles neurocognitifs › Démence › Maladie d'Alzheimer › Genome sequencing analysis identifies new loci...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études cas-témoins › Genome sequencing analysis identifies new loci...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de profil d'expression de gènes › Genome sequencing analysis identifies new loci...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Genome sequencing analysis identifies new loci...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Génome humain › Genome sequencing analysis identifies new loci...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › Genome sequencing analysis identifies new loci...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Glycosidases › Glucosidases › Glucosylceramidase › Genome sequencing analysis identifies new loci...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genome sequencing analysis identifies new loci...
questionsmedicales.fr › Troubles mentaux › Troubles neurocognitifs › Démence › Maladie à corps de Lewy › Genome sequencing analysis identifies new loci...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines nucléaires › Genome sequencing analysis identifies new loci...
questionsmedicales.fr › Maladies du système nerveux › Maladies neurodégénératives › Maladie de Parkinson › Genome sequencing analysis identifies new loci...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Genome sequencing analysis identifies new loci...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines tumorales › Protéines suppresseurs de tumeurs › Genome sequencing analysis identifies new loci...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines associées à la maladie de Parkinson › alpha-Synucléine › Genome sequencing analysis identifies new loci...