Reference : Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias
Scientific journals : Article
Life sciences : Genetics & genetic processes
Human health sciences : Neurology
Systems Biomedicine
http://hdl.handle.net/10993/55292
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias
English
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 mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Translational Neuroscience >]
May, Patrick mailto [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 [> >]
4-May-2023
Cell Genomics
Elsevier
100316
Yes
International
2666-979X
New York
United States - New York
[en] Structural variants ; Non-Alzheimer dementia ; Lewy body dementia ; frontotemporal dementia ; amyotrophic lateral sclerosis
[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.
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
Fonds National de la Recherche - FnR
http://hdl.handle.net/10993/55292
10.1016/j.xgen.2023.100316
https://linkinghub.elsevier.com/retrieve/pii/S2666979X23000848
FnR ; FNR11264123 > Rejko Krüger > NCER-PD > Ncer-pd > 01/01/2015 > 30/11/2020 > 2015

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