Celia Kun-Rodrigues
A comprehensive screening of copy-number variability in dementia with Lewy bodies
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; Ansorge, Olaf; Clarimon, 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; Deerlin, Vivianna Van; 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; Picke...
Authors
Tatiana Orme
Susana Carmona
Dena G Hernandez
Owen A Ross
John D Eicher
Claire Shepherd
Laura Parkkinen
Lee Darwent
Michael G Heckman
Sonja W Scholz
Juan C Troncoso
Olga Pletnikova
Olaf Ansorge
Jordi Clarimon
Alberto Lleo
Estrella Morenas-Rodriguez
Lorraine Clark
Lawrence S Honig
Karen Marder
Afina Lemstra
Ekaterina Rogaeva
Peter St. George-Hyslop
Elisabet Londos
Henrik Zetterberg
Imelda Barber
Anne Braae
KRISTELLE BROWN KRISTELLE.BROWN@NOTTINGHAM.AC.UK
Teaching Associate
Kevin Morgan
Claire Troakes
Safa Al-Sarraj
Tammaryn Lashley
Janice Holton
Yaroslau Compta
Vivianna Van Deerlin
Geidy E Serrano
Thomas G Beach
Suzanne Lesage
Douglas Galasko
Eliezer Masliah
Isabel Santana
Pau Pastor
Monica Diez-Fairen
Miquel Aguilar
Pentti J Tienari
Liisa Myllykangas
Minna Oinas
Tamas Revesz
Andrew Lees
Brad F Boeve
Ronald C Petersen
Tanis J Ferman
Valentina Escott-Price
Neill Graff-Radford
Nigel J Cairns
John C Morris
Stuart Pickering-Brown
David Mann
Glenda M Halliday
John Hardy
John Q Trojanowski
Dennis W Dickson
Andrew Singleton
David J Stone
Rita Guerreiro
Jose Bras
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 1,454 DLB cases and 1,525 controls to assess copy number variability. We used two 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 five CNV regions with a significant genome-wide association to DLB, two of these were only present in cases and absent from publicly available databases: one of the regions overlapped LAPTM4B, a known lysosomal protein; whilst the other overlapped the NME1 locus and SPAG9. We also identified DLB cases presenting CNVs in genes previously associated with DLB or related neurodegenerative diseases, namely SNCA and
MAPT. To our knowledge, this is the first study reporting genome-wide CNVs in a large DLB cohort.
Citation
Kun-Rodrigues, C., Orme, T., Carmona, S., Hernandez, D. G., Ross, O. A., Eicher, J. D., …Bras, J. (2019). A comprehensive screening of copy-number variability in dementia with Lewy bodies. Neurobiology of Aging, 75, 223.e1-223.e10. https://doi.org/10.1016/j.neurobiolaging.2018.10.019
Journal Article Type | Article |
---|---|
Acceptance Date | Oct 15, 2018 |
Online Publication Date | Oct 24, 2018 |
Publication Date | 2019-03 |
Deposit Date | Nov 1, 2018 |
Publicly Available Date | Oct 25, 2019 |
Journal | Neurobiology of Aging |
Print ISSN | 0197-4580 |
Electronic ISSN | 1558-1497 |
Publisher | Elsevier |
Peer Reviewed | Peer Reviewed |
Volume | 75 |
Pages | 223.e1-223.e10 |
DOI | https://doi.org/10.1016/j.neurobiolaging.2018.10.019 |
Public URL | https://nottingham-repository.worktribe.com/output/1216046 |
Publisher URL | https://www.sciencedirect.com/science/article/pii/S019745801830383X |
Additional Information | This article is maintained by: Elsevier; Article Title: A comprehensive screening of copy number variability in dementia with Lewy bodies; Journal Title: Neurobiology of Aging; CrossRef DOI link to publisher maintained version: https://doi.org/10.1016/j.neurobiolaging.2018.10.019; Content Type: article; Copyright: © 2019 Elsevier Inc. All rights reserved. |
Contract Date | Nov 1, 2018 |
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