Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.

Ruth Chia,Marya S Sabir,Sara Bandres-Ciga,Sara Saez-Atienzar,Regina H Reynolds,Emil Gustavsson,Ronald L Walton,Sarah Ahmed,Coralie Viollet,Jinhui Ding,Mary B Makarious,Monica Diez-Fairen,Makayla K Portley,Zalak Shah,Yevgeniya Abramzon,Dena G Hernandez,Cornelis Blauwendraat,David J Stone,John Eicher,Laura Parkkinen,Olaf Ansorge,Lorraine Clark,Lawrence S Honig,Karen Marder,Afina Lemstra,Peter St George-Hyslop,Elisabet Londos,Kevin Morgan,Tammaryn Lashley,Thomas T Warner,Zane Jaunmuktane,Douglas Galasko,Isabel Santana,Pentti J Tienari,Liisa Myllykangas,Minna Oinas,Nigel J Cairns,John C Morris,Glenda M Halliday,Vivianna M Van Deerlin,John Q Trojanowski,Maurizio Grassano,Andrea Calvo,Gabriele Mora,Antonio Canosa,Gianluca Floris,Ryan C Bohannan,Francesca Brett,Ziv Gan-Or,Joshua T Geiger,Anni Moore,Patrick May,Rejko Krüger,David S Goldstein,Grisel Lopez,Nahid Tayebi,Ellen Sidransky, American Genome Center,Lucy Norcliffe-Kaufmann,Jose-Alberto Palma,Horacio Kaufmann,Vikram G Shakkottai,Matthew Perkins,Kathy L Newell,Thomas Gasser,Claudia Schulte,Francesco Landi,Erika Salvi,Daniele Cusi,Eliezer Masliah,Ronald C Kim,Chad A Caraway,Edwin S Monuki,Maura Brunetti,Ted M Dawson,Liana S Rosenthal,Marilyn S Albert,Olga Pletnikova,Juan C Troncoso,Margaret E Flanagan,Qinwen Mao,Eileen H Bigio,Eloy Rodríguez-Rodríguez,Jon Infante,Carmen Lage,Isabel González-Aramburu,Pascual Sanchez-Juan,Bernardino Ghetti,Julia Keith,Sandra E Black,Mario Masellis,Ekaterina Rogaeva,Charles Duyckaerts,Alexis Brice,Suzanne Lesage,Georgia Xiromerisiou,Matthew J Barrett,Bension S Tilley,Steve Gentleman,Giancarlo Logroscino,Geidy E Serrano,Thomas G Beach,Ian G McKeith,Alan J Thomas,Johannes Attems,Christopher M Morris,Laura Palmer,Seth Love,Claire Troakes,Safa Al-Sarraj,Angela K Hodges,Dag Aarsland,Gregory Klein,Scott M Kaiser,Randy Woltjer,Pau Pastor,Lynn M Bekris,James B Leverenz,Lilah M Besser,Amanda Kuzma,Alan E Renton,Alison Goate,David A Bennett,Clemens R Scherzer,Huw R Morris,Raffaele Ferrari,Diego Albani,Stuart Pickering-Brown,Kelley Faber,Walter A Kukull,Estrella Morenas-Rodriguez,Alberto Lleó,Juan Fortea,Daniel Alcolea,Jordi Clarimon,Mike A Nalls,Luigi Ferrucci,Susan M Resnick,Toshiko Tanaka,Tatiana M Foroud,Neill R Graff-Radford,Zbigniew K Wszolek,Tanis Ferman,Bradley F Boeve,John A Hardy,Eric J Topol,Ali Torkamani,Andrew B Singleton,Mina Ryten,Dennis W Dickson,Adriano Chiò,Owen A Ross,J Raphael Gibbs,Clifton L Dalgard,Bryan J Traynor,Sonja W Scholz

Nature genetics(2021)

Cited 149|Views48
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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.
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