- Main
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias
- Kaivola, Karri;
- Chia, Ruth;
- Ding, Jinhui;
- Rasheed, Memoona;
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- Billingsley, Kimberley;
- Brand, Harrison;
- Talkowski, Michael;
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- Stark, Ali;
- Ray, Anindita;
- Solaiman;
- Jerez, Pilar Alvarez;
- 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;
- Soltis, Anthony R;
- Viollet, Coralie;
- Sukumar, Gauthaman;
- Alba, Camille;
- Lott, Nathaniel;
- Martinez, Elisa McGrath;
- 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, Reijko;
- May, Patrick;
- 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 JL;
- 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;
- Consortium, PROSPECT;
- 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
- et al.
Published Web Location
https://doi.org/10.1016/j.xgen.2023.100316Abstract
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.
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