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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, Dawson, Ted, Rosenthal, Liana, 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, 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 ORCID:, 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 and Bras, Jose 2019. A comprehensive screening of copy number variability in dementia with Lewy bodies. Neurobiology of Aging 75 10.1016/j.neurobiolaging.2018.10.019

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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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Publisher: Elsevier
ISSN: 0197-4580
Date of First Compliant Deposit: 21 December 2018
Date of Acceptance: 15 October 2018
Last Modified: 08 Nov 2023 03:20

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