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@ARTICLE{Chia:156013,
author = {Chia, Ruth and Sabir, Marya S and Bandres-Ciga, Sara and
Saez-Atienzar, Sara and Reynolds, Regina H and Gustavsson,
Emil and Walton, Ronald L and Ahmed, Sarah and Viollet,
Coralie and Ding, Jinhui and Makarious, Mary B and
Diez-Fairen, Monica and Portley, Makayla K and Shah, Zalak
and Abramzon, Yevgeniya and Hernandez, Dena Michelle Godwin
and Blauwendraat, Cornelis and Stone, David J and Eicher,
John and Parkkinen, Laura and Ansorge, Olaf and Clark,
Lorraine and Honig, Lawrence S and Marder, Karen and
Lemstra, Afina and St George-Hyslop, Peter and Londos,
Elisabet and Morgan, Kevin and Lashley, Tammaryn and Warner,
Thomas T and Jaunmuktane, Zane and Galasko, Douglas and
Santana, Isabel and Tienari, Pentti J and Myllykangas, Liisa
and Oinas, Minna and Cairns, Nigel J and Morris, John C and
Halliday, Glenda M and Van Deerlin, Vivianna M and
Trojanowski, John Q and Grassano, Maurizio and Calvo, Andrea
and Mora, Gabriele and Canosa, Antonio and Floris, Gianluca
and Bohannan, Ryan C and Brett, Francesca and Gan-Or, Ziv
and Geiger, Joshua T and Moore, Anni and May, Patrick and
Krüger, Rejko and Goldstein, David S and Lopez, Grisel and
Tayebi, Nahid and Sidransky, Ellen and Norcliffe-Kaufmann,
Lucy and Palma, Jose-Alberto and Kaufmann, Horacio and
Shakkottai, Vikram G and Perkins, Matthew and Newell, Kathy
L and Gasser, Thomas and Schulte, Claudia and Landi,
Francesco and Salvi, Erika and Cusi, Daniele and Masliah,
Eliezer and Kim, Ronald C and Caraway, Chad A and Monuki,
Edwin S and Brunetti, Maura and Dawson, Ted M and Rosenthal,
Liana S and Albert, Marilyn S and Pletnikova, Olga and
Troncoso, Juan C and Flanagan, Margaret E and Mao, Qinwen
and Bigio, Eileen H and Rodríguez-Rodríguez, Eloy and
Infante, Jon and Lage, Carmen and González-Aramburu, Isabel
and Sanchez-Juan, Pascual and Ghetti, Bernardino and Keith,
Julia and Black, Sandra E and Masellis, Mario and Rogaeva,
Ekaterina and Duyckaerts, Charles and Brice, Alexis and
Lesage, Suzanne and Xiromerisiou, Georgia and Barrett,
Matthew J and Tilley, Bension S and Gentleman, Steve and
Logroscino, Giancarlo and Serrano, Geidy E and Beach, Thomas
G and McKeith, Ian G and Thomas, Alan J and Attems, Johannes
and Morris, Christopher M and Palmer, Laura and Love, Seth
and Troakes, Claire and Al-Sarraj, Safa and Hodges, Angela K
and Aarsland, Dag and Klein, Gregory and Kaiser, Scott M and
Woltjer, Randy and Pastor, Pau and Bekris, Lynn M and
Leverenz, James B and Besser, Lilah M and Kuzma, Amanda and
Renton, Alan E and Goate, Alison and Bennett, David A and
Scherzer, Clemens R and Morris, Huw R and Ferrari, Raffaele
and Albani, Diego and Pickering-Brown, Stuart and Faber,
Kelley and Kukull, Walter A and Morenas-Rodriguez, Estrella
and Lleó, Alberto and Fortea, Juan and Alcolea, Daniel and
Clarimon, Jordi and Nalls, Mike A and Ferrucci, Luigi and
Resnick, Susan M and Tanaka, Toshiko and Foroud, Tatiana M
and Graff-Radford, Neill R and Wszolek, Zbigniew K and
Ferman, Tanis and Boeve, Bradley F and Hardy, John A and
Topol, Eric J and Torkamani, Ali and Singleton, Andrew B and
Ryten, Mina and Dickson, Dennis W and Chiò, Adriano and
Ross, Owen A and Gibbs, J Raphael and Dalgard, Clifton L and
Traynor, Bryan J and Scholz, Sonja W and Sotis, Anthony R
and Sukumar, Gauthaman and Alba, Camille and Lott, Nathaniel
and Martinez, Elisa McGrath and Tuck, Meila and Singh,
Jatinder and Bacikova, Dagmar and Zhang, Xijun and Hupalo,
Daniel N and Adeleye, Adelani and Wilkerson, Matthew D and
Pollard, Harvey B},
collaboration = {Center, American Genome},
title = {{G}enome sequencing analysis identifies new loci associated
with {L}ewy body dementia and provides insights into its
genetic architecture.},
journal = {Nature genetics},
volume = {53},
number = {3},
issn = {1546-1718},
address = {London},
publisher = {Macmillan Publishers Limited, part of Springer Nature},
reportid = {DZNE-2021-01145},
pages = {294 - 303},
year = {2021},
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.},
keywords = {Adaptor Proteins, Signal Transducing: genetics / Alzheimer
Disease: genetics / Case-Control Studies / Gene Expression
Profiling / Genetic Predisposition to Disease / Genome,
Human / Genome-Wide Association Study / Glucosylceramidase:
genetics / Humans / Lewy Body Disease: genetics / Nuclear
Proteins: genetics / Parkinson Disease: genetics /
Polymorphism, Single Nucleotide / Tumor Suppressor Proteins:
genetics / alpha-Synuclein: genetics / Adaptor Proteins,
Signal Transducing (NLM Chemicals) / BIN1 protein, human
(NLM Chemicals) / Nuclear Proteins (NLM Chemicals) / SNCA
protein, human (NLM Chemicals) / Tumor Suppressor Proteins
(NLM Chemicals) / alpha-Synuclein (NLM Chemicals) / GBA
protein, human (NLM Chemicals) / Glucosylceramidase (NLM
Chemicals)},
cin = {AG Haass / AG Berg / AG Gasser},
ddc = {570},
cid = {I:(DE-2719)1110007 / I:(DE-2719)5000055 /
I:(DE-2719)1210000},
pnm = {353 - Clinical and Health Care Research (POF4-353) / 352 -
Disease Mechanisms (POF4-352)},
pid = {G:(DE-HGF)POF4-353 / G:(DE-HGF)POF4-352},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:33589841},
pmc = {pmc:PMC7946812},
doi = {10.1038/s41588-021-00785-3},
url = {https://pub.dzne.de/record/156013},
}
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