A comprehensive screening of copy number variability in dementia with Lewy bodies

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dc.contributor.author Kun-Rodrigues, Celia
dc.contributor.author Orme, Tatiana
dc.contributor.author Carmona, Susana
dc.contributor.author Hernandez, Dena G.
dc.contributor.author Ross, Owen A.
dc.contributor.author Eicher, John D.
dc.contributor.author Shepherd, Claire
dc.contributor.author Parkkinen, Laura
dc.contributor.author Darwent, Lee
dc.contributor.author Heckman, Michael G.
dc.contributor.author Scholz, Sonja W.
dc.contributor.author Troncoso, Juan C.
dc.contributor.author Pletnikova, Olga
dc.contributor.author Dawson, Ted
dc.contributor.author Rosenthal, Liana
dc.contributor.author Ansorge, Olaf
dc.contributor.author Clarimonm, Jordi
dc.contributor.author Lleo, Alberto
dc.contributor.author Morenas-Rodriguez, Estrella
dc.contributor.author Clark, Lorraine
dc.contributor.author Honig, Lawrence S.
dc.contributor.author Marder, Karen
dc.contributor.author Lemstra, Afina
dc.contributor.author Rogaeva, Ekaterina
dc.contributor.author St George-Hyslop, Peter
dc.contributor.author Londos, Elisabet
dc.contributor.author Zetterberg, Henrik
dc.contributor.author Barber, Imelda
dc.contributor.author Braae, Anne
dc.contributor.author Brown, Kristelle
dc.contributor.author Morgan, Kevin
dc.contributor.author Troakes, Claire
dc.contributor.author Al-Sarraj, Safa
dc.contributor.author Lashley, Tammaryn
dc.contributor.author Holton, Janice
dc.contributor.author Compta, Yaroslau
dc.contributor.author Van Deerlin, Vivianna
dc.contributor.author Serrano, Geidy E.
dc.contributor.author Beach, Thomas G.
dc.contributor.author Lesage, Suzanne
dc.contributor.author Galasko, Douglas
dc.contributor.author Masliah, Eliezer
dc.contributor.author Santana, Isabel
dc.contributor.author Pastor, Pau
dc.contributor.author Diez-Fairen, Monica
dc.contributor.author Aguilar, Miquel
dc.contributor.author Tienari, Pentti J.
dc.contributor.author Myllykangas, Liisa
dc.contributor.author Oinas, Minna
dc.contributor.author Revesz, Tamas
dc.contributor.author Lees, Andrew
dc.contributor.author Boeve, Brad F.
dc.contributor.author Petersen, Ronald C.
dc.contributor.author Ferman, Tanis J.
dc.contributor.author Escott-Price, Valentina
dc.contributor.author Graff-Radford, Neill
dc.contributor.author Cairns, Nigel J.
dc.contributor.author Morris, John C.
dc.contributor.author Pickering-Brown, Stuart
dc.contributor.author Mann, David
dc.contributor.author Halliday, Glenda M.
dc.contributor.author Hardy, John
dc.contributor.author Trojanowski, John Q.
dc.contributor.author Dickson, Dennis W.
dc.contributor.author Singleton, Andrew
dc.contributor.author Stone, David J.
dc.contributor.author Guerreiro, Rita
dc.contributor.author Bras, Jose
dc.date.accessioned 2020-02-08T04:16:15Z
dc.date.available 2021-12-17T22:45:14Z
dc.date.issued 2019-03
dc.identifier.citation Kun-Rodrigues , C , Orme , T , Carmona , S , Hernandez , D G , Ross , O A , Eicher , J D , Shepherd , C , Parkkinen , L , Darwent , L , Heckman , M G , Scholz , S W , Troncoso , J C , Pletnikova , O , Dawson , T , Rosenthal , L , Ansorge , O , Clarimonm , J , Lleo , A , Morenas-Rodriguez , E , Clark , L , Honig , L S , Marder , K , Lemstra , A , Rogaeva , E , St George-Hyslop , P , Londos , E , Zetterberg , H , Barber , I , Braae , A , Brown , K , Morgan , K , Troakes , C , Al-Sarraj , S , Lashley , T , Holton , J , Compta , Y , Van Deerlin , V , Serrano , G E , Beach , T G , Lesage , S , Galasko , D , Masliah , E , Santana , I , Pastor , P , Diez-Fairen , M , Aguilar , M , Tienari , P J , Myllykangas , L , Oinas , M , Revesz , T , Lees , A , Boeve , B F , Petersen , R C , Ferman , T J , Escott-Price , V , Graff-Radford , N , Cairns , N J , Morris , J C , Pickering-Brown , S , Mann , D , Halliday , G M , Hardy , J , Trojanowski , J Q , Dickson , D W , Singleton , A , Stone , D J , Guerreiro , R & Bras , J 2019 , ' A comprehensive screening of copy number variability in dementia with Lewy bodies ' , Neurobiology of Aging , vol. 75 , ARTN 223.e1 . https://doi.org/10.1016/j.neurobiolaging.2018.10.019
dc.identifier.other PURE: 122159833
dc.identifier.other PURE UUID: 4cfe6a3c-17d7-4b55-87d3-8964025a82c9
dc.identifier.other WOS: 000456537300023
dc.identifier.other Scopus: 85056701141
dc.identifier.other ORCID: /0000-0002-6150-091X/work/58033187
dc.identifier.uri http://hdl.handle.net/10138/311291
dc.description.abstract The role of genetic variability in dementia with Lewy bodies (DLB) is now indisputable; however, data regarding copy number variation (CNV) in this disease has been lacking. Here, we used whole-genome genotyping of 1454 DLB cases and 1525 controls to assess copy number variability. We used 2 algorithms to confidently detect CNVs, performed a case-control association analysis, screened for candidate CNVs previously associated with DLB-related diseases, and performed a candidate gene approach to fully explore the data. We identified 5 CNV regions with a significant genome-wide association to DLB; 2 of these were only present in cases and absent from publicly available databases: one of the regions overlapped LAPTM4B, a known lysosomal protein, whereas the other overlapped the NME1 locus and SPAG9. We also identified DLB cases presenting rare CNVs in genes previously associated with DLB or related neurodegenerative diseases, such as SNCA, APP, and MAPT. To our knowledge, this is the first study reporting genome-wide CNVs in a large DLB cohort. These results provide preliminary evidence for the contribution of CNVs in DLB risk. (C) 2019 Elsevier Inc. All rights reserved. en
dc.format.extent 10
dc.language.iso eng
dc.relation.ispartof Neurobiology of Aging
dc.rights unspecified
dc.rights.uri info:eu-repo/semantics/openAccess
dc.subject Dementia with Lewy bodies
dc.subject Copy number variants
dc.subject MAPT
dc.subject SNCA
dc.subject Genome-wide
dc.subject SYNUCLEIN GENE DUPLICATION
dc.subject GENOME-WIDE ASSOCIATION
dc.subject ALPHA-SYNUCLEIN
dc.subject ALZHEIMERS-DISEASE
dc.subject MAPT GENE
dc.subject PURINE METABOLISM
dc.subject PARKINSON-DISEASE
dc.subject SNAPSHOT GENETICS
dc.subject GLUCOCEREBROSIDASE MUTATIONS
dc.subject RARE
dc.subject 3124 Neurology and psychiatry
dc.title A comprehensive screening of copy number variability in dementia with Lewy bodies en
dc.type Article
dc.contributor.organization Department of Neurosciences
dc.contributor.organization Research Programme for Molecular Neurology
dc.contributor.organization Pentti Tienari / Principal Investigator
dc.contributor.organization Neurologian yksikkö
dc.contributor.organization Research Programs Unit
dc.contributor.organization Clinicum
dc.contributor.organization Department of Pathology
dc.contributor.organization Liisa Tellervo Myllykangas / Principal Investigator
dc.contributor.organization Medicum
dc.contributor.organization Neurokirurgian yksikkö
dc.contributor.organization HUS Neurocenter
dc.description.reviewstatus Peer reviewed
dc.relation.doi https://doi.org/10.1016/j.neurobiolaging.2018.10.019
dc.relation.issn 0197-4580
dc.rights.accesslevel openAccess
dc.type.version publishedVersion

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