@article { , title = {A comprehensive screening of copy-number variability in dementia with Lewy bodies}, 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.}, doi = {10.1016/j.neurobiolaging.2018.10.019}, eissn = {1558-1497}, issn = {0197-4580}, journal = {Neurobiology of Aging}, note = {12 mo. embargo. OL 01.11.2018. Updated OL 15.11.2018}, pages = {223.e1-223.e10}, publicationstatus = {Published}, publisher = {Elsevier}, url = {https://nottingham-repository.worktribe.com/output/1216046}, volume = {75}, year = {2019}, author = {Kun-Rodrigues, Celia and Orme, Tatiana and Carmona, Susana and Hernandez, Dena G and Ross, Owen A and Eicher, John D and Shepherd, Claire and Parkkinen, Laura and Darwent, Lee and Heckman, Michael G and Scholz, Sonja W and Troncoso, Juan C and Pletnikova, Olga and Ansorge, Olaf and Clarimon, Jordi and Lleo, Alberto and Morenas-Rodriguez, Estrella and Clark, Lorraine and Honig, Lawrence S and Marder, Karen and Lemstra, Afina and Rogaeva, Ekaterina and St. George-Hyslop, Peter and Londos, Elisabet and Zetterberg, Henrik and Barber, Imelda and Braae, Anne and Brown, Kristelle and Morgan, Kevin and Troakes, Claire and Al-Sarraj, Safa and Lashley, Tammaryn and Holton, Janice and Compta, Yaroslau and Deerlin, Vivianna Van and Serrano, Geidy E and Beach, Thomas G and Lesage, Suzanne and Galasko, Douglas and Masliah, Eliezer and Santana, Isabel and Pastor, Pau and Diez-Fairen, Monica and Aguilar, Miquel and Tienari, Pentti J and Myllykangas, Liisa and Oinas, Minna and Revesz, Tamas and Lees, Andrew and Boeve, Brad F and Petersen, Ronald C and Ferman, Tanis J and Escott-Price, Valentina and Graff-Radford, Neill and Cairns, Nigel J and Morris, John C and Pickering-Brown, Stuart and Mann, David and Halliday, Glenda M and Hardy, John and Trojanowski, John Q and Dickson, Dennis W and Singleton, Andrew and Stone, David J and Guerreiro, Rita and Bras, Jose} }