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

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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

Titel: A comprehensive screening of copy number variability in dementia with Lewy bodies
Författare: Kun-Rodrigues, Celia; Orme, Tatiana; Carmona, Susana; Hernandez, Dena G.; Ross, Owen A.; Eicher, John D.; Shepherd, Claire; Parkkinen, Laura; Darwent, Lee; Heckman, Michael G.; Scholz, Sonja W.; Troncoso, Juan C.; Pletnikova, Olga; Dawson, Ted; Rosenthal, Liana; Ansorge, Olaf; Clarimonm, Jordi; Lleo, Alberto; Morenas-Rodriguez, Estrella; Clark, Lorraine; Honig, Lawrence S.; Marder, Karen; Lemstra, Afina; Rogaeva, Ekaterina; St George-Hyslop, Peter; Londos, Elisabet; Zetterberg, Henrik; Barber, Imelda; Braae, Anne; Brown, Kristelle; Morgan, Kevin; Troakes, Claire; Al-Sarraj, Safa; Lashley, Tammaryn; Holton, Janice; Compta, Yaroslau; Van Deerlin, Vivianna; Serrano, Geidy E.; Beach, Thomas G.; Lesage, Suzanne; Galasko, Douglas; Masliah, Eliezer; Santana, Isabel; Pastor, Pau; Diez-Fairen, Monica; Aguilar, Miquel; Tienari, Pentti J.; Myllykangas, Liisa; Oinas, Minna; Revesz, Tamas; Lees, Andrew; Boeve, Brad F.; Petersen, Ronald C.; Ferman, Tanis J.; Escott-Price, Valentina; Graff-Radford, Neill; Cairns, Nigel J.; Morris, John C.; Pickering-Brown, Stuart; Mann, David; Halliday, Glenda M.; Hardy, John; Trojanowski, John Q.; Dickson, Dennis W.; Singleton, Andrew; Stone, David J.; Guerreiro, Rita; Bras, Jose
Upphovmannens organisation: Department of Neurosciences
Research Programme for Molecular Neurology
Pentti Tienari / Principal Investigator
Neurologian yksikkö
Research Programs Unit
Department of Pathology
Liisa Tellervo Myllykangas / Principal Investigator
Neurokirurgian yksikkö
HUS Neurocenter
Datum: 2019-03
Språk: eng
Sidantal: 10
Tillhör serie: Neurobiology of Aging
ISSN: 0197-4580
DOI: https://doi.org/10.1016/j.neurobiolaging.2018.10.019
Permanenta länken (URI): http://hdl.handle.net/10138/311291
Abstrakt: 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.
Subject: Dementia with Lewy bodies
Copy number variants
3124 Neurology and psychiatry
Referentgranskad: Ja
Licens: unspecified
Användningsbegränsning: openAccess
Parallelpublicerad version: publishedVersion

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