Karri Kaivola, Ruth Chia, Jinhui Ding, Memoona Rasheed, Masashi Fujita, Vilas Menon, Ronald L Walton, Ryan L Collins, Kimberley Billingsley, Harrison Brand, Michael Talkowski, Xuefang Zhao, Ramita Dewan, Ali Stark, Anindita Ray, Sultana Solaiman, Pilar Alvarez 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 Tienari, Tatiana M Foroud, Bernardino Ghetti, John E Landers, Mina Ryten, Huw R Morris, John A Hardy, Letizia Mazzini, Sandra D'Alfonso, Cristina Moglia, Andrea Calvo, Geidy E Serrano, Thomas G Beach, Tanis Ferman, Neill R Graff-Radford, Bradley F Boeve, Zbigniew K Wszolek, 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
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...
June 14, 2023: Cell Genom