Evidence map›Paper›PMID 33589841›Full record

ArticleNature genetics2021

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

Ruth Chia, Marya S Sabir, Sara Bandres-Ciga, Sara Saez-Atienzar, Regina H Reynolds, Emil Gustavsson, Ronald L Walton, Sarah Ahmed, Coralie Viollet, Jinhui Ding and 146 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 295 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
295citing papers in PubMed, 6 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

295 citing papers in PubMed, 6 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Pooled it
  6. Pooled it
  7. Cellular and systemic modifiers of alpha-synuclein proteostasis.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2026
    Review
  8. Article
  9. Review
  10. Article
  11. Article
  12. Shared genetic architecture between DTI-ALPS traits and neurodegenerative diseases.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
    Article
  13. Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. Review
  19. Article
  20. Review

235 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

156 authors.

Ruth Chia *Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
Marya S Sabir *Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.
Sara Bandres-CigaMolecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
Sara Saez-AtienzarNeuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
Regina H ReynoldsDepartment of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.ORCID http://orcid.org/0000-0001-6470-7919
Emil GustavssonNIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.ORCID http://orcid.org/0000-0003-0541-7537
Ronald L WaltonDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Sarah AhmedNeurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.
Coralie ViolletCollaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.
Jinhui DingComputational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
Mary B MakariousNeurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.
Monica Diez-FairenMemory and Movement Disorders Units, Department of Neurology, University Hospital Mutua de Terrassa, Barcelona, Spain.ORCID http://orcid.org/0000-0003-1882-0309
Makayla K PortleyNeurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.ORCID http://orcid.org/0000-0003-2866-9198
Zalak ShahNeurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.
Yevgeniya AbramzonNeuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
Dena G HernandezMolecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
Cornelis BlauwendraatMolecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.ORCID http://orcid.org/0000-0001-9358-8111
David J StoneCerevel Therapeutics, Boston, MA, USA.
John EicherGenetics and Pharmacogenomics, Merck & Co., Inc., West Point, PA, USA.
Laura ParkkinenNuffield Department of Clinical Neurosciences, Oxford Parkinson's Disease Centre, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0002-3392-8564
Olaf AnsorgeNuffield Department of Clinical Neurosciences, Oxford Parkinson's Disease Centre, University of Oxford, Oxford, UK.
Lorraine ClarkTaub Institute for Alzheimer Disease and the Aging Brain, and Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.
Lawrence S HonigTaub Institute for Alzheimer Disease and the Aging Brain, G. H. Sergievsky Center and Department of Neurology, Columbia University, New York, NY, USA.
Karen MarderTaub Institute for Alzheimer Disease and the Aging Brain, G. H. Sergievsky Center and Department of Neurology, Columbia University, New York, NY, USA.
Afina LemstraDepartment of Neurology and Alzheimer Center, Neuroscience Campus Amsterdam, Amsterdam, the Netherlands.
Peter St George-HyslopDepartment of Clinical Neurosciences, Cambridge Institute of Medical Research, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0003-0796-7209
Elisabet LondosClinical Memory Research Unit, Institution of Clinical Sciences Malmo, Lund University, Lund, Sweden.
Kevin MorganHuman Genetics, School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK.ORCID http://orcid.org/0000-0002-8217-2396
Tammaryn LashleyDepartment of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Thomas T WarnerReta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London, UK.
Zane JaunmuktaneQueen Square Brain Bank for Neurological Disorders, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
Douglas GalaskoDepartment of Neurosciences, University of California, San Diego, La Jolla, CA, USA.
Isabel SantanaNeurology Service, University of Coimbra Hospital, Coimbra, Portugal.
Pentti J TienariTranslational Immunology, Research Programs Unit, University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0001-5686-2900
Liisa MyllykangasDepartment of Pathology, Medicum, University of Helsinki, Helsinki, Finland.
Minna OinasDepartment of Clinical Medicine, Faculty of Health, UiT The Arctic University of Norway, Tromsø, Norway.ORCID http://orcid.org/0000-0002-6150-091X
Nigel J CairnsKnight Alzheimer's Disease Research Center, Department of Neurology, Washington University School of Medicine, Saint Louis, MO, USA.ORCID http://orcid.org/0000-0001-9858-3344
John C MorrisKnight Alzheimer's Disease Research Center, Department of Neurology, Washington University School of Medicine, Saint Louis, MO, USA.
Glenda M HallidayNeuroscience Research Australia, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0003-0422-8398
Vivianna M Van DeerlinDepartment of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-7400-9097
John Q TrojanowskiDepartment of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-9239-8794
Maurizio GrassanoNeuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
Andrea CalvoRita Levi Montalcini Department of Neuroscience, University of Turin, Turin, Italy.ORCID http://orcid.org/0000-0002-5122-7243
Gabriele MoraIstituti Clinici Scientifici Maugeri, IRCCS, Milan, Italy.
Antonio CanosaRita Levi Montalcini Department of Neuroscience, University of Turin, Turin, Italy.
Gianluca FlorisDepartment of Neurology, University Hospital of Cagliari, Cagliari, Italy.
Ryan C BohannanDepartment of Neurobiology and Behavior, University of California Irvine, Irvine, CA, USA.
Francesca BrettDublin Brain Bank, Neuropathology Department, Beaumont Hospital, Dublin, Ireland.
Ziv Gan-OrMontreal Neurological Institute and Hospital, Department of Neurology & Neurosurgery, McGill University, Montreal, Quebec, Canada.ORCID http://orcid.org/0000-0003-0332-234X
Joshua T GeigerNeurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.
Anni MooreComputational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
Patrick MayLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.ORCID http://orcid.org/0000-0001-8698-3770
Rejko KrügerLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
David S GoldsteinClinical Neurocardiology Section, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.
Grisel LopezMedical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.
Nahid TayebiMedical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-1007-4957
Ellen SidranskyMedical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.
American Genome Center
Lucy Norcliffe-KaufmannDepartment of Neurology, New York University School of Medicine, New York, NY, USA.
Jose-Alberto PalmaDepartment of Neurology, New York University School of Medicine, New York, NY, USA.
Horacio KaufmannDepartment of Neurology, New York University School of Medicine, New York, NY, USA.ORCID http://orcid.org/0000-0002-1851-9981
Vikram G ShakkottaiDepartment of Neurology, University of Michigan Medical School, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0003-2742-6469
Matthew PerkinsMichigan Brain Bank, University of Michigan Medical School, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0001-7715-0638
Kathy L NewellDepartment of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
Thomas GasserDepartment 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 SchulteDepartment 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 LandiFondazione Policlinico Universitario Agostino Gemelli IRCCS Università Cattolica del Sacro Cuore, Rome, Italy.
Erika SalviNeuroalgology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Daniele CusiBio4Dreams-Business Nursery for Life, Milan, Italy.ORCID http://orcid.org/0000-0002-1006-7597
Eliezer MasliahMolecular Neuropathology Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
Ronald C KimDepartment of Neuropathology, School of Medicine, University of California Irvine, Irvine, CA, USA.
Chad A CarawayInstitute for Memory Impairments and Neurological Disorders, University of California Irvine, Irvine, CA, USA.
Edwin S MonukiDepartment of Pathology & Laboratory Medicine, School of Medicine, University of California Irvine, Irvine, CA, USA.
Maura BrunettiRita Levi Montalcini Department of Neuroscience, University of Turin, Turin, Italy.
Ted M DawsonDepartment of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, USA.
Liana S RosenthalDepartment of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, USA.
Marilyn S AlbertDepartment of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, USA.
Olga PletnikovaDepartment of Pathology (Neuropathology), Johns Hopkins University Medical Center, Baltimore, MD, USA.
Juan C TroncosoDepartment of Pathology (Neuropathology), Johns Hopkins University Medical Center, Baltimore, MD, USA.
Margaret E FlanaganMesulam Center for Cognitive Neurology and Alzheimer's Disease, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Qinwen MaoMesulam Center for Cognitive Neurology and Alzheimer's Disease, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.ORCID http://orcid.org/0000-0001-7876-2046
Eileen H BigioMesulam Center for Cognitive Neurology and Alzheimer's Disease, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Eloy Rodríguez-RodríguezNeurology Service, University Hospital Marqués de Valdecilla-IDIVAL-UC-CIBERNED, Santander, Spain.ORCID http://orcid.org/0000-0001-7742-677X
Jon InfanteNeurology Service, University Hospital Marqués de Valdecilla-IDIVAL-UC-CIBERNED, Santander, Spain.
Carmen LageNeurology Service, University Hospital Marqués de Valdecilla-IDIVAL-UC-CIBERNED, Santander, Spain.
Isabel González-AramburuNeurology Service, University Hospital Marqués de Valdecilla-IDIVAL-UC-CIBERNED, Santander, Spain.
Pascual Sanchez-JuanNeurology Service, University Hospital Marqués de Valdecilla-IDIVAL-UC-CIBERNED, Santander, Spain.ORCID http://orcid.org/0000-0002-6081-8037
Bernardino GhettiDepartment of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
Julia KeithDepartment of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Ontario, Canada.
Sandra E BlackInstitute of Medical Science, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0001-7093-8289
Mario MasellisHurvitz Brain Sciences Research Program, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada.
Ekaterina RogaevaTanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
Charles DuyckaertsDepartment of Neuropathology Escourolle, Paris Brain Institute, Sorbonne Universités, Paris, France.
Alexis BriceSorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Hôpital Pitié-Salpêtrière, DMU Neuroscience 6, Paris, France.
Suzanne LesageSorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Hôpital Pitié-Salpêtrière, DMU Neuroscience 6, Paris, France.
Georgia XiromerisiouDepartment of Neurology, University Hospital of Larissa, University of Thessalia, Larissa, Greece.
Matthew J BarrettDepartment of Neurology, Virginia Commonwealth University, Richmond, VA, USA.
Bension S TilleyNeuropathology Unit, Department of Brain Sciences, Imperial College London, London, UK.
Steve GentlemanNeuropathology Unit, Department of Brain Sciences, Imperial College London, London, UK.
Giancarlo LogroscinoDepartment of Basic Medicine Neurosciences and Sense Organs, University Aldo Moro, Bari, Italy.
Geidy E SerranoCivin Laboratory for Neuropathology, Banner Sun Health Research Institute, Sun City, AZ, USA.
Thomas G BeachCivin Laboratory for Neuropathology, Banner Sun Health Research Institute, Sun City, AZ, USA.
Ian G McKeithNewcastle Brain Tissue Resource, Translational and Clinical Research Institute, Biomedical Research Building, Newcastle University, Newcastle upon Tyne, UK.
Alan J ThomasNewcastle Brain Tissue Resource, Translational and Clinical Research Institute, Biomedical Research Building, Newcastle University, Newcastle upon Tyne, UK.
Johannes AttemsNewcastle Brain Tissue Resource, Translational and Clinical Research Institute, Biomedical Research Building, Newcastle University, Newcastle upon Tyne, UK.
Christopher M MorrisNewcastle Brain Tissue Resource, Translational and Clinical Research Institute, Biomedical Research Building, Newcastle University, Newcastle upon Tyne, UK.
Laura PalmerSouth West Dementia Brain Bank, Bristol Medical School, University of Bristol, Bristol, UK.
Seth LoveDementia Research Group, Bristol Medical School, University of Bristol, Bristol, UK.
Claire TroakesInstitute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.ORCID http://orcid.org/0000-0002-1790-7376
Safa Al-SarrajDepartment 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 HodgesInstitute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.ORCID http://orcid.org/0000-0002-5565-6678
Dag AarslandInstitute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Gregory KleinRush Alzheimer's Disease Center, Rush University, Chicago, IL, USA.
Scott M KaiserDepartment of Neuropathology, Indiana University School of Medicine, Indianapolis, IN, USA.
Randy WoltjerDepartment of Neurology, Oregon Health & Sciences University, Portland, OR, USA.
Pau PastorMemory and Movement Disorders Units, Department of Neurology, University Hospital Mutua de Terrassa, Barcelona, Spain.ORCID http://orcid.org/0000-0002-7493-8777
Lynn M BekrisGenomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.
James B LeverenzCleveland Lou Ruvo Center for Brain Health, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA.
Lilah M BesserInstitute for Human Health and Disease Intervention, Florida Atlantic University, Boca Raton, FL, USA.
Amanda KuzmaDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Alan E RentonRonald M. Loeb Center for Alzheimer's Disease, Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0001-6702-8268
Alison GoateRonald 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 http://orcid.org/0000-0002-0576-2472
David A BennettRush Alzheimer's Disease Center, Rush University, Chicago, IL, USA.
Clemens R ScherzerPrecision Neurology Program, Brigham & Women's Hospital, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-0567-9193
Huw R MorrisDepartment of Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology, University College London, London, UK.ORCID http://orcid.org/0000-0002-5473-3774
Raffaele FerrariDepartment of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Diego AlbaniDepartment of Neuroscience, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan, Italy.ORCID http://orcid.org/0000-0002-7050-6723
Stuart Pickering-BrownDivision of Neuroscience and Experimental Psychology, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.ORCID http://orcid.org/0000-0003-1561-6054
Kelley FaberDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
Walter A KukullNational Alzheimer's Coordinating Center, Department of Epidemiology, University of Washington, Seattle, WA, USA.
Estrella Morenas-RodriguezBiomedizinisches Centrum, Biochemie, Ludwig-Maximilians-Universität München & Deutsches Zentrum für Neurodegenerative Erkrankungen, Munich, Germany.
Alberto LleóSant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Juan ForteaSant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Daniel AlcoleaSant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.ORCID http://orcid.org/0000-0002-3819-3245
Jordi ClarimonSant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Mike A NallsLaboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
Luigi FerrucciLongitudinal Studies Section, National Institute on Aging, Baltimore, MD, USA.ORCID http://orcid.org/0000-0002-6273-1613
Susan M ResnickLaboratory of Behavioral Neuroscience, National Institute on Aging, Baltimore, MD, USA.
Toshiko TanakaLongitudinal Studies Section, National Institute on Aging, Baltimore, MD, USA.
Tatiana M ForoudDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.ORCID http://orcid.org/0000-0002-5549-2212
Neill R Graff-RadfordDepartment of Neurology, Mayo Clinic, Jacksonville, FL, USA.
Zbigniew K WszolekDepartment of Neurology, Mayo Clinic, Jacksonville, FL, USA.
Tanis FermanDepartment of Psychiatry and Psychology, Mayo Clinic, Jacksonville, FL, USA.
Bradley F BoeveDepartment of Neurology, Mayo Clinic, Rochester, MN, USA.
John A HardyDepartment of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Eric J TopolScripps Research Translational Institute, Scripps Research, La Jolla, CA, USA.ORCID http://orcid.org/0000-0002-1478-4729
Ali TorkamaniScripps Research Translational Institute, Scripps Research, La Jolla, CA, USA.
Andrew B SingletonMolecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
Mina RytenNIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.ORCID http://orcid.org/0000-0001-9520-6957
Dennis W DicksonDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Adriano ChiòRita Levi Montalcini Department of Neuroscience, University of Turin, Turin, Italy.ORCID http://orcid.org/0000-0001-9579-5341
Owen A RossDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.ORCID http://orcid.org/0000-0003-4813-756X
J Raphael GibbsComputational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-6985-0658
Clifton L DalgardDepartment of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.
Bryan J TraynorNeuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
Sonja W ScholzNeurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA. sonja.scholz@nih.gov.ORCID http://orcid.org/0000-0002-6623-0429

Funding

National Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD)U24AG021886 · NIA · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI TATIANA M. FOROUD · 2002 to 2026
$119.8M
Clinical and Translational Science AwardUL1TR001873 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI REILLY, MUREDACH P · 2016 to 2025
$99.0M
SUPPLEMENT TO RUSH ALZHEIMERS DISEASE CENTER COREP30AG010161 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI BARNES, LISA L · 1991 to 2020
$49.1M
EPIDEMIOLOGY OF NEURAL RESERVE AND NEUROBIOLOGY IN AGINGR01AG017917 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI BENNETT, DAVID ALAN · 2001 to 2023
$43.3M
Research Education ComponentP30AG066507 · NIA · JOHNS HOPKINS UNIVERSITY · PI MARILYN S. ALBERT · 2020 to 2026
$29.3M
Neuropathology CoreP30AG013854 · NIA · NORTHWESTERN UNIVERSITY AT CHICAGO · PI ROGALSKI, EMILY J · 1996 to 2020
$28.9M
Research Education Core FP30AG072977 · NIA · NORTHWESTERN UNIVERSITY AT CHICAGO · PI SANDRA WEINTRAUB · 2021 to 2026
$26.3M
Clinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2M
Biomarkers of Parkinson Disease and Related DisordersZIANS003034 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI GOLDSTEIN, DAVID · 2009 to 2025
$22.8M
RISK FACTORS, PATHOLOGY, AND CLINICAL EXPRESSIONS OF ADR01AG015819 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI BENNETT, DAVID ALAN · 1998 to 2024
$21.4M
Early Markers of Alzheimer DiseaseZIAAG000185 · NIA · NATIONAL INSTITUTE ON AGING · PI WALKER, KEENAN · 2009 to 2025
$20.4M
Longitudinal Imaging Biomarkers of Prodromal DLBU01NS100620 · NINDS · MAYO CLINIC ROCHESTER · PI Bradley F Boeve, KEJAL KANTARCI · 2017 to 2026
$19.2M
Intramural NIH HHS ZIA AG000935Intramural NIH HHS ZIA NS003033Intramural NIH HHS ZIA NS003034Intramural NIH HHS ZIA NS003154Medical Research Council G0400074Medical Research Council G0502157Medical Research Council G0900652Medical Research Council G1100540Medical Research Council MR/L016397/1Medical Research Council MR/L023784/2Medical Research Council MR/N008324/1NCATS NIH HHS UL1 TR000040NCATS NIH HHS UL1 TR001873NIA NIH HHS K08 AG065463NIA NIH HHS P30 AG010161NIA NIH HHS P30 AG013854NIA NIH HHS P30 AG066507NIA NIH HHS P30 AG072977NIA NIH HHS R01 AG015819NIA NIH HHS R01 AG017917NIA NIH HHS U19 AG062418NIA NIH HHS U24 AG021886NINDS NIH HHS P50 NS062684NINDS NIH HHS P50 NS071674NINDS NIH HHS P50 NS072187NINDS NIH HHS R01 NS096740NINDS NIH HHS R01 NS115144NINDS NIH HHS U01 NS095736NINDS NIH HHS U01 NS100620NINDS NIH HHS U24 NS095871NINDS NIH HHS U54 NS100693NINDS NIH HHS U54 NS110435Wellcome Trust
6 · The paper itself

Abstract

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.

Indexed as

Genome-Wide Association StudyAdaptor Proteins, Signal Transducingalpha-SynucleinAlzheimer DiseaseCase-Control StudiesGene Expression ProfilingGenetic Predisposition to DiseaseGenome, HumanGlucosylceramidaseHumansLewy Body DiseaseNuclear ProteinsParkinson DiseasePolymorphism, Single NucleotideTumor Suppressor ProteinsAdaptor Proteins, Signal Transducingalpha-SynucleinBIN1 protein, humanGBA protein, humanGlucosylceramidaseNuclear ProteinsSNCA protein, humanTumor Suppressor Proteins

Identifiers

PMID33589841
PMCPMC7946812

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.