| Literature DB >> 33589841 |
Ruth Chia1, Marya S Sabir2, Sara Bandres-Ciga3, Sara Saez-Atienzar1, Regina H Reynolds4,5,6, Emil Gustavsson5,6, Ronald L Walton7, Sarah Ahmed2, Coralie Viollet8,9, Jinhui Ding10, Mary B Makarious2, Monica Diez-Fairen11, Makayla K Portley2, Zalak Shah2, Yevgeniya Abramzon1,12, Dena G Hernandez3, Cornelis Blauwendraat3, David J Stone13, John Eicher14, Laura Parkkinen15, Olaf Ansorge15, Lorraine Clark16, Lawrence S Honig17, Karen Marder17, Afina Lemstra18, Peter St George-Hyslop19,20, Elisabet Londos21, Kevin Morgan22, Tammaryn Lashley4,23, Thomas T Warner12,23, Zane Jaunmuktane23, Douglas Galasko24,25, Isabel Santana26,27,28,29, Pentti J Tienari30,31, Liisa Myllykangas32,33, Minna Oinas34, Nigel J Cairns35, John C Morris35, Glenda M Halliday36,37,38, Vivianna M Van Deerlin39, John Q Trojanowski39, Maurizio Grassano1,40, Andrea Calvo40,41, Gabriele Mora42, Antonio Canosa40,41, Gianluca Floris43, Ryan C Bohannan44, Francesca Brett45, Ziv Gan-Or46, Joshua T Geiger2, Anni Moore10, Patrick May47, Rejko Krüger47,48,49, David S Goldstein50, Grisel Lopez51, Nahid Tayebi51, Ellen Sidransky51, Lucy Norcliffe-Kaufmann52, Jose-Alberto Palma52, Horacio Kaufmann52, Vikram G Shakkottai53, Matthew Perkins54, Kathy L Newell55, Thomas Gasser56, Claudia Schulte56, Francesco Landi57, Erika Salvi58, Daniele Cusi59, Eliezer Masliah60, Ronald C Kim61, Chad A Caraway62, Edwin S Monuki63, Maura Brunetti40, Ted M Dawson64,65,66,67, Liana S Rosenthal64, Marilyn S Albert64, Olga Pletnikova68,69, Juan C Troncoso68, Margaret E Flanagan70,71, Qinwen Mao70,71, Eileen H Bigio70,71, Eloy Rodríguez-Rodríguez72, Jon Infante72, Carmen Lage72, Isabel González-Aramburu72, Pascual Sanchez-Juan72, Bernardino Ghetti55, Julia Keith73, Sandra E Black74,75,76,77,78, Mario Masellis77,78,79,80, Ekaterina Rogaeva81, Charles Duyckaerts82,83, Alexis Brice83, Suzanne Lesage83, Georgia Xiromerisiou84, Matthew J Barrett85, Bension S Tilley86, Steve Gentleman86, Giancarlo Logroscino87,88, Geidy E Serrano89, Thomas G Beach89, Ian G McKeith90, Alan J Thomas90, Johannes Attems90, Christopher M Morris90, Laura Palmer91, Seth Love92, Claire Troakes93, Safa Al-Sarraj94, Angela K Hodges93, Dag Aarsland93,95, Gregory Klein96, Scott M Kaiser97, Randy Woltjer98, Pau Pastor11, Lynn M Bekris99, James B Leverenz100, Lilah M Besser101, Amanda Kuzma102, Alan E Renton103, Alison Goate104, David A Bennett96, Clemens R Scherzer105, Huw R Morris106, Raffaele Ferrari4, Diego Albani107, Stuart Pickering-Brown108, Kelley Faber109, Walter A Kukull110, Estrella Morenas-Rodriguez111,112,113, Alberto Lleó112,113, Juan Fortea112,113, Daniel Alcolea112,113, Jordi Clarimon112,113, Mike A Nalls114,115,116, Luigi Ferrucci117, Susan M Resnick118, Toshiko Tanaka117, Tatiana M Foroud109, Neill R Graff-Radford119, Zbigniew K Wszolek119, Tanis Ferman120, Bradley F Boeve121, John A Hardy4,12,122,123,124, Eric J Topol125, Ali Torkamani125, Andrew B Singleton3,116, Mina Ryten5,6, Dennis W Dickson7, Adriano Chiò40,41,126, Owen A Ross7,127, J Raphael Gibbs10, Clifton L Dalgard128,129, Bryan J Traynor1,12,64, Sonja W Scholz130,131.
Abstract
The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer's disease and Parkinson's disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition.Entities:
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Year: 2021 PMID： 33589841 PMCID： PMC7946812 DOI： 10.1038/s41588-021-00785-3
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330