Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture
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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.
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Genome sequencing has identified new loci for dementia with Lewy bodies, and genetic risk scores suggest it shares risk profiles with Alzheimer's and Parkinson's diseases.
“While the genetic architecture of this form of dementia is poorly understood, genome sequencing has identified new loci, and genetic risk scores suggest that it shares risk profiles with Alzheimer's and Parkinson's diseases 168 .”
From Mental health care for older adults: recent advances and new directions in clinical practice and research (2022) · cites this paper as [168]
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- Authors
- Chia, R., Sabir, M. S., Bandres-Ciga, S., Saez-Atienzar, S., Reynolds, R. H., Gustavsson, E., Walton, R. L., Ahmed, S., Viollet, C., Ding, J., Makarious, M. B., Diez-Fairen, M., Portley, M. K., Shah, Z., Abramzon, Y., Hernandez, D. G., Blauwendraat, C., Stone, D. J., Eicher, J., Parkkinen, L., Ansorge, O., Clark, L., Honig, L. S., Marder, K., Lemstra, A., St George-Hyslop, P., Londos, E., Morgan, K., Lashley, T., Warner, T. T., Jaunmuktane, Z., Galasko, D., Santana, I., Tienari, P. J., Myllykangas, L., Oinas, M., Cairns, N. J., Morris, J. C., Halliday, G. M., Van Deerlin, V. M., Trojanowski, J. Q., Grassano, M., Calvo, A., Mora, G., Canosa, A., Floris, G., Bohannan, R. C., Brett, F., Gan-Or, Z., Geiger, J. T., Moore, A., May, P., Krüger, R., Goldstein, D. S., Lopez, G., Tayebi, N., Sidransky, E., The American Genome Center, Sotis, A. R., Sukumar, G., Alba, C., Lott, N., Martinez, E. M., Tuck, M., Singh, J., Bacikova, D., Zhang, X., Hupalo, D. N., Adeleye, A., Wilkerson, M. D., Pollard, H. B., Norcliffe-Kaufmann, L., Palma, J.-A., Kaufmann, H., Shakkottai, V. G., Perkins, M., Newell, K. L., Gasser, T., Schulte, C., Landi, F., Salvi, E., Cusi, D., Masliah, E., Kim, R. C., Caraway, C. A., Monuki, E. S., Brunetti, M., Dawson, T. M., Rosenthal, L. S., Albert, M. S., Pletnikova, O., Troncoso, J. C., Flanagan, M. E., Mao, Q., Bigio, E. H., Rodríguez-Rodríguez, E., Infante, J., Lage, C., González-Aramburu, I., Sanchez-Juan, P., Ghetti, B., Keith, J., Black, S. E., Masellis, M., Rogaeva, E., Duyckaerts, C., Brice, A., Lesage, S., Xiromerisiou, G., Barrett, M. J., Tilley, B. S., Gentleman, S., Logroscino, G., Serrano, G. E., Beach, T. G., McKeith, I. G., Thomas, A. J., Attems, J., Morris, C. M., Palmer, L., Love, S., Troakes, C., Al-Sarraj, S., Hodges, A. K., Aarsland, D., Klein, G., Kaiser, S. M., Woltjer, R., Pastor, P., Bekris, L. M., Leverenz, J. B., Besser, L. M., Kuzma, A., Renton, A. E., Goate, A., Bennett, D. A., Scherzer, C. R., Morris, H. R., Ferrari, R., Albani, D., Pickering-Brown, S., Faber, K., Kukull, W. A., Morenas-Rodriguez, E., Lleó, A., Fortea, J., Alcolea, D., Clarimon, J., Nalls, M. A., Ferrucci, L., Resnick, S. M., Tanaka, T., Foroud, T. M., Graff-Radford, N. R., Wszolek, Z. K., Ferman, T., Boeve, B. F., Hardy, J. A., Topol, E. J., Torkamani, A., Singleton, A. B., Ryten, M., Dickson, D. W., Chiò, A., Ross, O. A., Gibbs, J. R., Dalgard, C. L., Traynor, B. J., & Scholz, S. W.
- Affiliations
- National Institutes of Health (US)
- National Institute of Neurological Disorders and Stroke (US)
- NIHR Great Ormond Street Hospital Biomedical Research Centre (GB)
- Mayo Clinic in Florida (US)
- Henry M. Jackson Foundation (US)
- Cerevel Therapeutics (United States) (US)
- Merck & Co., Inc., Rahway, NJ, USA (United States) (US)
- University of Oxford (GB)
- Columbia University (US)
- Columbia University Irving Medical Center (US)
- Amsterdam Neuroscience (NL)
- Lund University (SE)
- University of Nottingham (GB)
- National Hospital for Neurology and Neurosurgery (GB)
- University of California San Diego (US)
- Unidade Local de Saúde de Coimbra (PT)
- University of Helsinki (FI)
- UiT The Arctic University of Norway (NO)
- Washington University in St. Louis (US)
- The University of Sydney (AU)
- University of Pennsylvania (US)
- Azienda Ospedaliera Citta' della Salute e della Scienza di Torino (IT)
- Istituti Clinici Scientifici Maugeri (IT)
- Azienda Ospedaliero-Universitaria Cagliari (IT)
- University of California, Irvine (US)
- Beaumont Hospital (IE)
- University of Luxembourg (LU)
- Centre Hospitalier de Luxembourg (LU)
- National Human Genome Research Institute (US)
- Uniformed Services University of the Health Sciences (US)
- NYU Langone Health (US)
- University of Michigan (US)
- Indiana University School of Medicine (US)
- German Center for Neurodegenerative Diseases (DE)
- Università Cattolica del Sacro Cuore (IT)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
- Bio4Dreams (Italy) (IT)
- University of Turin (IT)
- Johns Hopkins University (US)
- Northwestern University (US)
- Biomedical Research Networking Center on Neurodegenerative Diseases (ES)
- Sunnybrook Health Science Centre (CA)
- University of Toronto (CA)
- Centre National de la Recherche Scientifique (FR)
- University Hospital of Larissa (GR)
- Virginia Commonwealth University (US)
- Imperial College London (GB)
- University of Bari Aldo Moro (IT)
- Banner Sun Health Research Institute (US)
- Newcastle University (GB)
- University of Bristol (GB)
- King's College London (GB)
- Rush University (US)
- Indiana University Indianapolis (US)
- Oregon Health & Science University (US)
- Cleveland Clinic (US)
- Florida Atlantic University (US)
- Icahn School of Medicine at Mount Sinai (US)
- Brigham and Women's Hospital (US)
- UCL Queen Square Institute of Neurology (GB)
- Mario Negri Institute for Pharmacological Research (IT)
- University of Manchester (GB)
- University of Washington (US)
- Universitat Autònoma de Barcelona (ES)
- National Institute on Aging (US)
- Mayo Clinic (US)
- Hong Kong University of Science and Technology (HK)
- Scripps Research Institute (US)
- Corresponding author
- Scholz, Sonja W.
- ORCID
- Chia, Ruth
- Sabir, Marya S.
- Reynolds, Regina H.
- Gustavsson, Emil
- Ahmed, Sarah
- Viollet, Coralie
- Ding, Jinhui
- Makarious, Mary B.
- Diez-Fairen, Monica
- Portley, Makayla K.
- Shah, Zalak
- Hernandez, Dena G.
- Blauwendraat, Cornelis
- Parkkinen, Laura
- Ansorge, Olaf
- Clark, Lorraine
- Honig, Lawrence S.
- Marder, Karen
- Lemstra, Afina
- St George-Hyslop, Peter
- Londos, Elisabet
- Morgan, Kevin
- Lashley, Tammaryn
- Warner, Thomas T.
- Jaunmuktane, Zane
- Galasko, Douglas
- Santana, Isabel
- Tienari, Pentti J.
- Myllykangas, Liisa
- Oinas, Minna
- Cairns, Nigel J.
- Morris, John C.
- Halliday, Glenda M.
- Van Deerlin, Vivianna M.
- Trojanowski, John Q.
- Grassano, Maurizio
- Calvo, Andrea
- Mora, Gabriele
- Canosa, Antonio
- Floris, Gianluca
- Brett, Francesca
- Gan-Or, Ziv
- Geiger, Joshua T.
- Moore, Anni
- May, Patrick
- Krüger, Rejko
- Goldstein, David S.
- Lopez, Grisel
- Tayebi, Nahid
- Sidransky, Ellen
- Sukumar, Gauthaman
- Alba, Camille
- Zhang, Xijun
- Hupalo, Daniel N.
- Wilkerson, Matthew D.
- Pollard, Harvey B.
- Palma, Jose-Alberto
- Kaufmann, Horacio
- Shakkottai, Vikram G.
- Perkins, Matthew
- Newell, Kathy L.
- Gasser, Thomas
- Schulte, Claudia
- Landi, Francesco
- Salvi, Erika
- Cusi, Daniele
- Masliah, Eliezer
- Monuki, Edwin S.
- Brunetti, Maura
- Dawson, Ted M.
- Rosenthal, Liana S.
- Albert, Marilyn S.
- Troncoso, Juan C.
- Flanagan, Margaret E.
- Mao, Qinwen
- Bigio, Eileen H.
- Rodríguez-Rodríguez, Eloy
- Infante, Jon
- Lage, Carmen
- Sanchez-Juan, Pascual
- Ghetti, Bernardino
- Keith, Julia
- Black, Sandra E.
- Masellis, Mario
- Rogaeva, Ekaterina
- Duyckaerts, Charles
- Brice, Alexis
- Lesage, Suzanne
- Xiromerisiou, Georgia
- Logroscino, Giancarlo
- Serrano, Geidy E.
- Beach, Thomas G.
- McKeith, Ian G.
- Thomas, Alan J.
- Attems, Johannes
- Morris, Christopher M.
- Love, Seth
- Troakes, Claire
- Hodges, Angela K.
- Aarsland, Dag
- Woltjer, Randy
- Pastor, Pau
- Bekris, Lynn M.
- Leverenz, James B.
- Kuzma, Amanda
- Renton, Alan E.
- Goate, Alison
- Bennett, David A.
- Scherzer, Clemens R.
- Morris, Huw R.
- Ferrari, Raffaele
- Albani, Diego
- Pickering-Brown, Stuart
- Faber, Kelley
- Kukull, Walter A.
- Lleó, Alberto
- Fortea, Juan
- Alcolea, Daniel
- Nalls, Mike A.
- Ferrucci, Luigi
- Resnick, Susan M.
- Tanaka, Toshiko
- Foroud, Tatiana M.
- Ferman, Tanis
- Boeve, Bradley F.
- Hardy, John A.
- Topol, Eric J.
- Torkamani, Ali
- Singleton, Andrew B.
- Ryten, Mina
- Dickson, Dennis W.
- Chiò, Adriano
- Ross, Owen A.
- Gibbs, J. Raphael
- Dalgard, Clifton L.
- Traynor, Bryan J.
- Scholz, Sonja W.
- Venue
- Nature Genetics
- Published
- 2021-02-15
- Volume
- 53
- Issue
- 3
- Pages
- 294-303
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC7946812
- OpenAlex
- W3128153416
- Cited by
- 438
- References
- 65
- Citations by year
- 2026: 51 · 2025: 101 · 2024: 123 · 2023: 65 · 2022: 70 · 2021: 27
- FWCI
- 35.49
- Type
- journal article
- Language
- en
- Open access
- green
- pure.amsterdamumc.nl
- Licence
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion, cc-by)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion, other-oa)
- PubMed Central (acceptedVersion)
- Repository@Nottingham (University of Nottingham) (acceptedVersion, other-oa)
- IUScholarWorks (Indiana University) (submittedVersion)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion)
- Repository@Nottingham (University of Nottingham) (submittedVersion, cc-by)
- Rare & Special e-Zone (The Hong Kong University of Science and Technology) (submittedVersion)
- HAL (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- University of Thessaly Institutional Repository (University of Thessaly) (submittedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- Open Repository and Bibliography (University of Luxembourg) (submittedVersion, cc-by-nc-sa)
- DZNE Pub (submittedVersion)
- Bristol Research (University of Bristol) (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- Funders
- U.S. Department of Health & Human Services | National Institutes of Health (1ZIAAG000935, 1ZIANS003154, 1ZIANS0030033, 1ZIANS003034)
- Foundation for the National Institutes of Health (1ZIAAG000935)
- U.S. Department of Health & Human Services | Administration for Children & Families | Administration for Native Americans (1ZIANS003154)
- Topics
- Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- dementia with Lewy bodies, genetic susceptibility loci, genetic architecture, GBA mutations, polygenic risk score, Alzheimer's disease, Parkinson's disease, neurodegenerative disease genetics, whole genome sequencing
- MeSH terms
- Alzheimer Disease, Glucosylceramidase, Humans, Nuclear Proteins, Parkinson Disease, Genome, Human, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Gene Expression Profiling, Lewy Body Disease, Tumor Suppressor Proteins, Adaptor Proteins, Signal Transducing, alpha-Synuclein, Genome-Wide Association Study
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