Title : Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias Language : English Author, co-author : Kaivola, Karri [> >] Chia, Ruth [> >] Ding, Jinhui [> >] Rasheed, Memoona [> >] Fujita, Masashi [> >] Menon, Vilas [> >] Walton, Ronald L. [> >] Collins, Ryan L. [> >] Billingsley, Kimberley [> >] Brand, Harrison [> >] Talkowski, Michael [> >] Zhao, Xuefang [> >] Dewan, Ramita [> >] Stark, Ali [> >] Ray, Anindita [> >] Solaiman, Sultana [> >] Alvarez Jerez, Pilar [> >] Malik, Laksh [> >] Dawson, Ted M. [> >] Rosenthal, Liana S. [> >] Albert, Marilyn S. [> >] Pletnikova, Olga [> >] Troncoso, Juan C. [> >] Masellis, Mario [> >] Keith, Julia [> >] Black, Sandra E. [> >] Ferrucci, Luigi [> >] Resnick, Susan M. [> >] Tanaka, Toshiko [> >] Topol, Eric [> >] Torkamani, Ali [> >] Tienari, Pentti [> >] Foroud, Tatiana M. [> >] Ghetti, Bernardino [> >] Landers, John E. [> >] Ryten, Mina [> >] Morris, Huw R. [> >] Hardy, John A. [> >] Mazzini, Letizia [> >] D'Alfonso, Sandra [> >] Moglia, Cristina [> >] Calvo, Andrea [> >] Serrano, Geidy E. [> >] Beach, Thomas G. [> >] Ferman, Tanis [> >] Graff-Radford, Neill R. [> >] Boeve, Bradley F. [> >] Wszolek, Zbigniew K. [> >] Dickson, Dennis W. [> >] Chiò, Adriano [> >] Bennett, David A. [> >] De Jager, Philip L. [> >] Ross, Owen A. [> >] Dalgard, Clifton L. [> >] Gibbs, J. Raphael [> >] Traynor, Bryan J. [> >] Scholz, Sonja W. [> >] Soltis, Anthony R. [> >] Viollet, Coralie [> >] Sukumar, Gauthaman [> >] Alba, Camille [> >] Lott, Nathaniel [> >] McGrath Martinez, Elisa [> >] Tuck, Meila [> >] Singh, Jatinder [> >] Bacikova, Dagmar [> >] Zhang, Xijun [> >] Hupalo, Daniel N. [> >] Adeleye, Adelani [> >] Wilkerson, Matthew D. [> >] Pollard, Harvey B. [> >] Dalgard, Clifton L. [> >] Black, Sandra E. [> >] Gan-Or, Ziv [> >] Keith, Julia [> >] Masellis, Mario [> >] Rogaeva, Ekaterina [> >] Brice, Alexis [> >] Lesage, Suzanne [> >] Xiromerisiou, Georgia [> >] Calvo, Andrea [> >] Canosa, Antonio [> >] Chio, Adriano [> >] Logroscino, Giancarlo [> >] Mora, Gabriele [> >] Krüger, Rejko [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Translational Neuroscience >] May, Patrick [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Bioinformatics Core] Alcolea, Daniel [> >] Clarimon, Jordi [> >] Fortea, Juan [> >] Gonzalez-Aramburu, Isabel [> >] Infante, Jon [> >] Lage, Carmen [> >] Lleó, Alberto [> >] Pastor, Pau [> >] Sanchez-Juan, Pascual [> >] Brett, Francesca [> >] Aarsland, Dag [> >] Al-Sarraj, Safa [> >] Attems, Johannes [> >] Gentleman, Steve [> >] Hardy, John A. [> >] Hodges, Angela K. [> >] Love, Seth [> >] McKeith, Ian G. [> >] Morris, Christopher M. [> >] Morris, Huw R. [> >] Palmer, Laura [> >] Pickering-Brown, Stuart [> >] Ryten, Mina [> >] Thomas, Alan J. [> >] Troakes, Claire [> >] Albert, Marilyn S. [> >] Barrett, Matthew J. [> >] Beach, Thomas G. [> >] Bekris, Lynn M. [> >] Bennett, David A. [> >] Boeve, Bradley F. [> >] Dalgard, Clifton L. [> >] Dawson, Ted M. [> >] Dickson, Dennis W. [> >] Faber, Kelley [> >] Ferman, Tanis [> >] Ferrucci, Luigi [> >] Flanagan, Margaret E. [> >] Foroud, Tatiana M. [> >] Ghetti, Bernardino [> >] Gibbs, J. Raphael [> >] Goate, Alison [> >] Goldstein, David S. [> >] Graff-Radford, Neill R. [> >] Kaufmann, Horacio [> >] Kukull, Walter A. [> >] Leverenz, James B. [> >] Lopez, Grisel [> >] Mao, Qinwen [> >] Masliah, Eliezer [> >] Monuki, Edwin [> >] Newell, Kathy L. [> >] Palma, Jose-Alberto [> >] Perkins, Matthew [> >] Pletnikova, Olga [> >] Renton, Alan E. [> >] Resnick, Susan M. [> >] Rosenthal, Liana S. [> >] Ross, Owen A. [> >] Scherzer, Clemens R. [> >] Serrano, Geidy E. [> >] Shakkottai, Vikram G. [> >] Sidransky, Ellen [> >] Tanaka, Toshiko [> >] Tayebi, Nahid [> >] Topol, Eric [> >] Torkamani, Ali [> >] Troncoso, Juan C. [> >] Woltjer, Randy [> >] Wszolek, Zbigniew K. [> >] Scholz, Sonja W. [> >] Baloh, Robert H. [> >] Bowser, Robert [> >] Brice, Alexis [> >] Broach, James [> >] Camu, William [> >] Chiò, Adriano [> >] Cooper-Knock, John [> >] Drepper, Carsten [> >] Drory, Vivian E. [> >] Dunckley, Travis L. [> >] Feldman, Eva [> >] Fratta, Pietro [> >] Gerhard, Glenn [> >] Gibson, Summer B. [> >] Glass, Jonathan D. [> >] Hardy, John A. [> >] Harms, Matthew B. [> >] Heiman-Patterson, Terry D. [> >] Jansson, Lilja [> >] Kirby, Janine [> >] Kwan, Justin [> >] Laaksovirta, Hannu [> >] Landers, John E. [> >] Landi, Francesco [> >] Le Ber, Isabelle [> >] Lumbroso, Serge [> >] MacGowan, Daniel J. L. [> >] Maragakis, Nicholas J. [> >] Mouzat, Kevin [> >] Myllykangas, Liisa [> >] Orrell, Richard W. [> >] Ostrow, Lyle W. [> >] Pamphlett, Roger [> >] Pioro, Erik [> >] Pulst, Stefan M. [> >] Ravits, John M. [> >] Robberecht, Wim [> >] Rogaeva, Ekaterina [> >] Rothstein, Jeffrey D. [> >] Sendtner, Michael [> >] Shaw, Pamela J. [> >] Sidle, Katie C. [> >] Simmons, Zachary [> >] Stein, Thor [> >] Stone, David J. [> >] Tienari, Pentti J. [> >] Traynor, Bryan J. [> >] Troncoso, Juan C. [> >] Valori, Miko [> >] Van Damme, Philip [> >] Van Deerlin, Vivianna M. [> >] Van Den Bosch, Ludo [> >] Zinman, Lorne [> >] Publication date : 4-May-2023 Journal title : Cell Genomics Publisher : Elsevier Pages : 100316 Peer reviewed : Yes Audience : International e-ISSN : 2666-979X City : New York Country : United States - New York Keywords : [en] Structural variants ; Non-Alzheimer dementia ; Lewy body dementia ; frontotemporal dementia ; amyotrophic lateral sclerosisAbstract : [en] We characterized the role of structural variants, a largely unexplored type of genetic variation, in two non-Alzheimer’s dementias, namely Lewy body dementia (LBD) and frontotemporal dementia (FTD)/amyotrophic lateral sclerosis (ALS). To do this, we applied an advanced structural variant calling pipeline (GATK-SV) to short-read whole-genome sequence data from 5,213 European-ancestry cases and 4,132 controls. We discovered, replicated, and validated a deletion in TPCN1 as a novel risk locus for LBD and detected the known structural variants at the C9orf72 and MAPT loci as associated with FTD/ALS. We also identified rare pathogenic structural variants in both LBD and FTD/ALS. Finally, we assembled a catalog of structural variants that can be mined for new insights into the pathogenesis of these understudied forms of dementia.Research centres : Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) ; Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group) ; Luxembourg Institute of Health - LIH Funders : Fonds National de la Recherche - FnR Permalink : http://hdl.handle.net/10993/55292 DOI : 10.1016/j.xgen.2023.100316 Other URL : https://linkinghub.elsevier.com/retrieve/pii/S2666979X23000848 FnR project : FnR ; FNR11264123 > Rejko Krüger > NCER-PD > Ncer-pd > 01/01/2015 > 30/11/2020 > 2015 
