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

Title: A comprehensive screening of copy number variability in dementia with Lewy bodies
Author: 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
Other contributor: University of Helsinki, Department of Neurosciences
University of Helsinki, Department of Pathology
University of Helsinki, Neurokirurgian yksikkö










Date: 2019-03
Language: eng
Number of pages: 10
Belongs to series: Neurobiology of Aging
ISSN: 0197-4580
DOI: https://doi.org/10.1016/j.neurobiolaging.2018.10.019
URI: http://hdl.handle.net/10138/311291
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.
Subject: Dementia with Lewy bodies
Copy number variants
MAPT
SNCA
Genome-wide
SYNUCLEIN GENE DUPLICATION
GENOME-WIDE ASSOCIATION
ALPHA-SYNUCLEIN
ALZHEIMERS-DISEASE
MAPT GENE
PURINE METABOLISM
PARKINSON-DISEASE
SNAPSHOT GENETICS
GLUCOCEREBROSIDASE MUTATIONS
RARE
3124 Neurology and psychiatry
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