Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias

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; 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 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

doi:10.1016/j.xgen.2023.100316

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Article (Scientific journals)

Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias

Kaivola, Karri; Chia, Ruth; Ding, Jinhui et al.

2023 • In Cell Genomics, p. 100316

Peer Reviewed verified by ORBi

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https://hdl.handle.net/10993/55292

DOI
10.1016/j.xgen.2023.100316

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Keywords :

Structural variants; Non-Alzheimer dementia; Lewy body dementia; frontotemporal dementia; amyotrophic lateral sclerosis

Abstract :

[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 center :

- Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
- Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)
LIH - Luxembourg Institute of Health

Disciplines :

Neurology
Genetics & genetic processes

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

More authors (201 more)

External co-authors :

yes

Language :

English

Title :

Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias

Publication date :

04 May 2023

Journal title :

Cell Genomics

ISSN :

2666-979X

Publisher :

Elsevier, New York, United States - New York

Pages :

100316

Peer reviewed :

Peer Reviewed verified by ORBi

Focus Area :

Systems Biomedicine

Additional URL :

https://linkinghub.elsevier.com/retrieve/pii/S2666979X23000848

FnR Project :

FNR11264123 - Ncer-pd, 2015 (01/01/2015-30/11/2020) - Rejko Krüger

Funders :

FNR - Fonds National de la Recherche [LU]

Available on ORBilu :

since 07 June 2023

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