@article{d8522c4c599344318fbdd3f19be8e167,
title = "Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture",
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{\textquoteright}s disease and Parkinson{\textquoteright}s disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition.",
author = "{The American Genome Center} and Ruth Chia and Sabir, {Marya S.} and Sara Bandres-Ciga and Sara Saez-Atienzar and Reynolds, {Regina H.} and Emil Gustavsson and Walton, {Ronald L.} and Sarah Ahmed and Coralie Viollet and Jinhui Ding and Makarious, {Mary B.} and Monica Diez-Fairen and Portley, {Makayla K.} and Zalak Shah and Yevgeniya Abramzon and Hernandez, {Dena G.} and Cornelis Blauwendraat and Stone, {David J.} and John Eicher and Laura Parkkinen and Olaf Ansorge and Lorraine Clark and Honig, {Lawrence S.} and Karen Marder and Afina Lemstra and {St George-Hyslop}, Peter and Elisabet Londos and Kevin Morgan and Tammaryn Lashley and Warner, {Thomas T.} and Zane Jaunmuktane and Douglas Galasko and Isabel Santana and Tienari, {Pentti J.} and Liisa Myllykangas and Minna Oinas and Cairns, {Nigel J.} and Morris, {John C.} and Halliday, {Glenda M.} and {van Deerlin}, {Vivianna M.} and Trojanowski, {John Q.} and Maurizio Grassano and Andrea Calvo and Gabriele Mora and Antonio Canosa and Gianluca Floris and Bohannan, {Ryan C.} and Francesca Brett and Ziv Gan-Or and Geiger, {Joshua T.}",
note = "Publisher Copyright: {\textcopyright} 2021, This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply. Copyright: Copyright 2021 Elsevier B.V., All rights reserved.",
year = "2021",
month = mar,
day = "1",
doi = "https://doi.org/10.1038/s41588-021-00785-3",
language = "English",
volume = "53",
pages = "294--303",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "3",
}