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

Nature genetics, 2021-03, Vol.53 (3), p.294-303 [Peer Reviewed Journal]

COPYRIGHT 2021 Nature Publishing Group ;Copyright Nature Publishing Group Mar 2021 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1061-4036 ;ISSN: 1546-1718 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-021-00785-3 ;PMID: 33589841

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Title:
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture
Author: Chia, Ruth ; Sabir, Marya S ; Saez-Atienzar, Sara ; Gustavsson, Emil ; Walton, Ronald L ; Ahmed, Sarah ; Makarious, Mary B ; Diez-Fairen, Monica ; Portley, Makayla K ; Shah, Zalak ; Hernandez, Dena G ; Blauwendraat, Cornelis ; Stone, David J ; Eicher, John ; Parkkinen, Laura ; Ansorge, Olaf ; Honig, Lawrence S ; Marder, Karen ; Lemstra, Afina ; Londos, Elisabet ; Morgan, Kevin ; Warner, Thomas T ; Jaunmuktane, Zane ; Galasko, Douglas ; Tienari, Pentti J ; Oinas, Minna ; Morris, John C ; Halliday, Glenda M ; Van Deerlin, Vivianna M ; Trojanowski, John Q ; Calvo, Andrea ; Canosa, Antonio ; Floris, Gianluca ; Bohannan, Ryan C ; Gan-Or, Ziv ; Geiger, Joshua T ; Krüger, Rejko ; Lopez, Grisel ; Sidransky, Ellen ; Norcliffe-Kaufmann, Lucy ; Kaufmann, Horacio ; Shakkottai, Vikram G ; Perkins, Matthew ; Newell, Kathy L ; Gasser, Thomas ; Schulte, Claudia ; Landi, Francesco ; Cusi, Daniele ; Monuki, Edwin S ; Brunetti, Maura ; Dawson, Ted M ; Rosenthal, Liana S ; Pletnikova, Olga ; Flanagan, Margaret E ; Rodríguez-Rodríguez, Eloy ; Infante, Jon ; Lage, Carmen ; Black, Sandra E ; Masellis, Mario ; Rogaeva, Ekaterina ; Duyckaerts, Charles ; Brice, Alexis ; Tilley, Bension S ; Gentleman, Steve ; Logroscino, Giancarlo ; Serrano, Geidy E ; Beach, Thomas G ; McKeith, Ian G ; Morris, Christopher M ; Al-Sarraj, Safa ; Hodges, Angela K ; Aarsland, Dag ; Klein, Gregory ; Kaiser, Scott M ; Woltjer, Randy ; Bekris, Lynn M ; Leverenz, James B ; Besser, Lilah M ; Kuzma, Amanda ; Morris, Huw R ; Albani, Diego ; Pickering-Brown, Stuart ; Faber, Kelley ; Morenas-Rodriguez, Estrella ; Fortea, Juan ; Alcolea, Daniel ; Nalls, Mike A ; Ferrucci, Luigi ; Resnick, Susan M ; Foroud, Tatiana M ; Graff-Radford, Neill R ; Ferman, Tanis ; Hardy, John A ; Torkamani, Ali ; Ryten, Mina ; Chiò, Adriano ; Ross, Owen A ; Gibbs, J Raphael ; Dalgard, Clifton L ; Traynor, Bryan J
Subjects: Adaptor Proteins, Signal Transducing ; Adaptor Proteins, Signal Transducing - genetics ; Age ; alpha synuclein ; alpha-Synuclein - genetics ; Alzheimer disease ; Alzheimer Disease - genetics ; Alzheimer's disease ; Association analysis ; Basic Medicine ; BIN1 protein, human ; case control study ; Case-Control Studies ; clinical trial ; Consortia ; Dementia ; Dementia disorders ; diffuse Lewy body disease ; DNA sequencing ; GBA protein, human ; Gene expression ; Gene Expression Profiling ; gene locus ; gene mutation ; gene sequence ; Gene sequencing ; Genes ; Genetic aspects ; genetic predisposition ; Genetic Predisposition to Disease ; Genetic research ; genetic risk score ; genetic susceptibility ; genetics ; genome analysis ; Genome, Human ; Genome-Wide Association Study ; Genomes ; Genomics ; glucosylceramidase ; Glucosylceramidase - genetics ; Health risk assessment ; human ; human genome ; Human health and pathology ; Humans ; Identification and classification ; Lewy bodies ; Lewy Body Disease ; Lewy Body Disease - genetics ; Life Sciences ; Loci ; Medical and Health Sciences ; Medicin och hälsovetenskap ; Medicinska och farmaceutiska grundvetenskaper ; Methods ; Movement disorders ; multicenter study ; Mutation ; Neurodegenerative diseases ; Neurosciences ; Neurovetenskaper ; nuclear protein ; Nuclear Proteins ; Nuclear Proteins - genetics ; Nucleotide sequencing ; Parkinson disease ; Parkinson Disease - genetics ; Parkinson's disease ; Polymorphism, Single Nucleotide ; priority journal ; Quantitative trait loci ; Risk assessment ; signal transducing adaptor protein ; single nucleotide polymorphism ; SNCA protein, human ; tumor suppressor protein ; Tumor Suppressor Proteins ; Tumor Suppressor Proteins - genetics ; Whole genome sequencing
Is Part Of: Nature genetics, 2021-03, Vol.53 (3), p.294-303
Description: 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.
Publisher: United States: Nature Publishing Group
Language: English
Identifier: ISSN: 1061-4036
ISSN: 1546-1718
EISSN: 1546-1718
DOI: 10.1038/s41588-021-00785-3
PMID: 33589841
Source: Geneva Foundation Free Medical Journals at publisher websites
MEDLINE
SWEPUB Freely available online
ProQuest Central

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

COPYRIGHT 2021 Nature Publishing Group ;Copyright Nature Publishing Group Mar 2021 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1061-4036 ;ISSN: 1546-1718 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-021-00785-3 ;PMID: 33589841

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