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

2023; Elsevier BV; Volume: 3; Issue: 6 Linguagem: Inglês

10.1016/j.xgen.2023.100316

2666-979X

Karri Kaivola, Ruth Chia, Jinhui Ding, Memoona Rasheed, Masashi Fujita, Vilas Menon, Ronald L. Walton, Ryan L. Collins, Kimberley Billingsley, Harrison Brand, Michael E. Talkowski, Xuefang Zhao, Ramita Dewan, Ali Stark, Anindita Ray, Sultana Solaiman, Pilar Álvarez Jerez, Laksh Malik, Ted M. Dawson, Liana S. Rosenthal, Marilyn S. Albert, Olga Pletnikova, Juan C. Troncoso, Mario Masellis, Julia Keith, Sandra E. Black, Luigi Ferrucci, Susan M. Resnick, Toshiko Tanaka, Eric Topol, Ali Torkamani, Pentti J. Tienari, Tatiana Foroud, Bernardino Ghetti, John E. Landers, Mina Ryten, Huw R. Morris, John Hardy, Letizia Mazzini, Sandra D’Alfonso, Cristina Moglia, Andrea Calvo, Geidy E. Serrano, Thomas G. Beach, Tanis J. Ferman, Neill R. Graff‐Radford, Bradley F. Boeve, Zbigniew K. Wszołek, Dennis W. Dickson, Adriano Chiò, David A. Bennett, Philip L. De Jager, Owen A. Ross, Clifton L. Dalgard, J. Raphael Gibbs, Bryan J. Traynor, Sonja W. Scholz, Anthony R. Soltis, Coralie Viollet, Gauthaman Sukumar, Camille Alba, Nathaniel M. Lott, Elisa McGrath Martinez, Meila Tuck, Jatinder Singh, Dagmar Bačíková, Xijun Zhang, Daniel N. Hupalo, Adelani Adeleye, Matthew D. Wilkerson, Harvey B. Pollard, Clifton L. Dalgard, Sandra E. Black, Ziv Gan‐Or, Julia Keith, Mario Masellis, Ekaterina Rogaeva, Alexis Brice, Suzanne Lesage, Georgia Xiromerisiou, Andrea Calvo, Antonio Canosa, Adriano Chiò, Giancarlo Logroscino, Gabriele Mora, Reijko Krüger, Patrick May, Daniel Alcolea, Jordi Clarimón, Juan Fortea, Isabel González Aramburu, Jon Infante, Carmen Lage, Alberto Lleó, Pau Pástor, Pascual Sánchez‐Juan, Francesca Brett, Dag Aarsland, Safa Al‐Sarraj, Johannes Attems, Steve Gentleman, John Hardy, Angela Hodges, Seth Love, Ian G. McKeith, Christopher M. Morris, Huw R. Morris, Lyle J. Palmer, Stuart Pickering‐Brown, Mina Ryten, Alan Thomas, Claire Troakes, Marilyn S. Albert, Matthew J. Barrett, Thomas G. Beach, Lynn M. Bekris, David A. Bennett, Bradley F. Boeve, Clifton L. Dalgard, Ted M. Dawson, Dennis W. Dickson, Kelley Faber, Tanis J. Ferman, Luigi Ferrucci, Margaret E. Flanagan, Tatiana Foroud, Bernardino Ghetti, J. Raphael Gibbs, Alison Goate, David S. Goldstein, Neill R. Graff‐Radford, Horacio Kaufmann, Walter A. Kukull, James B. Leverenz, Grisel Lopez, Qinwen Mao, Eliezer Masliah, Edwin S. Monuki, Kathy L. Newell, Jose‐Alberto Palma, Matthew Perkins, Olga Pletnikova, Alan E. Renton, Susan M. Resnick, Liana S. Rosenthal, Owen A. Ross, Clemens R. Scherzer, Geidy E. Serrano, Vikram G. Shakkottai, Ellen Sidransky, Toshiko Tanaka, Nahid Tayebi, Eric Topol, Ali Torkamani, Juan C. Troncoso, Randy Woltjer, Zbigniew K. Wszołek, Sonja W. Scholz, Robert H. Baloh, Robert Bowser, Alexis Brice, James R. Broach, William Camu, Adriano Chiò, Johnathan Cooper‐Knock, Carsten Drepper, Vivian E. Drory, Travis Dunckley, Eva L. Feldman, Pietro Fratta, Glenn S. Gerhard, Summer Gibson, Jonathan D. Glass, John Hardy, Matthew B. Harms, Terry Heiman‐Patterson, Lilja Jansson, Janine Kirby, Justin Kwan, Hannu Laaksovirta, John E. Landers, Francesco Landi, Isabelle Le Ber, Serge Lumbroso, Daniel J. MacGowan, Nicholas J. Maragakis, Kevin Mouzat, Liisa Myllykangas, Richard W. Orrell, Lyle W. Ostrow, Roger Pamphlett, Erik P. Pioro, Stefan M. Pulst, John Ravits, Wim Robberecht, Ekaterina Rogaeva, Jeffrey D. Rothstein, Michael Sendtner, Pamela J. Shaw, Katie Sidle, Zachary Simmons, Thor D. Stein, David J. Stone, Pentti J. Tienari, Bryan J. Traynor, Juan C. Troncoso, Miko Valori, Philip Van Damme, Vivianna M. Van Deerlin, Ludo Van Den Bosch, Lorne Zinman,

Alzheimer's disease research and treatments

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