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

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dc.contributor.authorChia, Ruth
dc.contributor.authorSabir, Marya S.
dc.contributor.authorBandres-Ciga, Sara
dc.contributor.authorSaez-Atienzar, Sara
dc.contributor.authorReynolds, Regina H.
dc.contributor.authorGustavsson, Emil
dc.contributor.authorWalton, Ronald L.
dc.contributor.authorAhmed, Sarah
dc.contributor.authorViollet, Coralie
dc.contributor.authorDing, Jinhui
dc.contributor.authorMakarious, Mary B.
dc.contributor.authorDiez-Fairen, Monica
dc.contributor.authorPortley, Makayla K.
dc.contributor.authorShah, Zalak
dc.contributor.authorAbramzon, Yevgeniya
dc.contributor.authorHernandez, Dena G.
dc.contributor.authorBlauwendraat, Cornelis
dc.contributor.authorStone, David J.
dc.contributor.authorEicher, John
dc.contributor.authorParkkinen, Laura
dc.contributor.authorAnsorge, Olaf
dc.contributor.authorClark, Lorraine
dc.contributor.authorHonig, Lawrence S.
dc.contributor.authorMarder, Karen
dc.contributor.authorLemstra, Afina
dc.contributor.authorSt. George-Hyslop, Peter
dc.contributor.authorLondos, Elisabet
dc.contributor.authorMorgan, Kevin
dc.contributor.authorLashley, Tammaryn
dc.contributor.authorWarner, Thomas T.
dc.contributor.authorJaunmuktane, Zane
dc.contributor.authorGalasko, Douglas
dc.contributor.authorSantana, Isabel
dc.contributor.authorTienari, Pentti J.
dc.contributor.authorMyllykangas, Liisa
dc.contributor.authorOinas, Minna
dc.contributor.authorCairns, Nigel J.
dc.contributor.authorMorris, John C.
dc.contributor.authorHalliday, Glenda M.
dc.contributor.authorVan Deerlin, Vivianna M.
dc.contributor.authorTrojanowski, John Q.
dc.contributor.authorGrassano, Maurizio
dc.contributor.authorCalvo, Andrea
dc.contributor.authorMora, Gabriele
dc.contributor.authorCanosa, Antonio
dc.contributor.authorFloris, Gianluca
dc.contributor.authorBohannan, Ryan C.
dc.contributor.authorBrett, Francesca
dc.contributor.authorGan-Or, Ziv
dc.contributor.authorGeiger, Joshua T.
dc.contributor.authorMoore, Anni
dc.contributor.authorMay, Patrick
dc.contributor.authorKrüger, Rejko
dc.contributor.authorGoldstein, David S.
dc.contributor.authorLopez, Grisel
dc.contributor.authorTayebi, Nahid
dc.contributor.authorSidransky, Ellen
dc.contributor.authorNorcliffe-Kaufmann, Lucy
dc.contributor.authorPalma, Jose-Alberto
dc.contributor.authorKaufmann, Horacio
dc.contributor.authorShakkottai, Vikram G.
dc.contributor.authorPerkins, Matthew
dc.contributor.authorNewell, Kathy L.
dc.contributor.authorGasser, Thomas
dc.contributor.authorSchulte, Claudia
dc.contributor.authorLandi, Francesco
dc.contributor.authorSalvi, Erika
dc.contributor.authorCusi, Daniele
dc.contributor.authorMasliah, Eliezer
dc.contributor.authorKim, Ronald C.
dc.contributor.authorCaraway, Chad A.
dc.contributor.authorMonuki, Edwin S.
dc.contributor.authorBrunetti, Maura
dc.contributor.authorDawson, Ted M.
dc.contributor.authorRosenthal, Liana S.
dc.contributor.authorAlbert, Marilyn S.
dc.contributor.authorPletnikova, Olga
dc.contributor.authorTroncoso, Juan C.
dc.contributor.authorFlanagan, Margaret E.
dc.contributor.authorMao, Qinwen
dc.contributor.authorBigio, Eileen H.
dc.contributor.authorRodríguez-Rodríguez, Eloy
dc.contributor.authorInfante, Jon
dc.contributor.authorLage, Carmen
dc.contributor.authorGonzález-Aramburu, Isabel
dc.contributor.authorSanchez-Juan, Pascual
dc.contributor.authorGhetti, Bernardino
dc.contributor.authorKeith, Julia
dc.contributor.authorBlack, Sandra E.
dc.contributor.authorMasellis, Mario
dc.contributor.authorRogaeva, Ekaterina
dc.contributor.authorDuyckaerts, Charles
dc.contributor.authorBrice, Alexis
dc.contributor.authorLesage, Suzanne
dc.contributor.authorXiromerisiou, Georgia
dc.contributor.authorBarrett, Matthew J.
dc.contributor.authorTilley, Bension S.
dc.contributor.authorGentleman, Steve
dc.contributor.authorLogroscino, Giancarlo
dc.contributor.authorSerrano, Geidy E.
dc.contributor.authorBeach, Thomas G.
dc.contributor.authorMcKeith, Ian G.
dc.contributor.authorThomas, Alan J.
dc.contributor.authorAttems, Johannes
dc.contributor.authorMorris, Christopher M.
dc.contributor.authorPalmer, Laura
dc.contributor.authorLove, Seth
dc.contributor.authorTroakes, Claire
dc.contributor.authorAl-Sarraj, Safa
dc.contributor.authorHodges, Angela K.
dc.contributor.authorAarsland, Dag
dc.contributor.authorKlein, Gregory
dc.contributor.authorKaiser, Scott M.
dc.contributor.authorWoltjer, Randy
dc.contributor.authorPastor, Pau
dc.contributor.authorBekris, Lynn M.
dc.contributor.authorLeverenz, James B.
dc.contributor.authorBesser, Lilah M.
dc.contributor.authorKuzma, Amanda
dc.contributor.authorRenton, Alan E.
dc.contributor.authorGoate, Alison
dc.contributor.authorBennett, David A.
dc.contributor.authorScherzer, Clemens R.
dc.contributor.authorMorris, Huw R.
dc.contributor.authorFerrari, Raffaele
dc.contributor.authorAlbani, Diego
dc.contributor.authorPickering-Brown, Stuart
dc.contributor.authorFaber, Kelley
dc.contributor.authorKukull, Walter A.
dc.contributor.authorMorenas-Rodriguez, Estrella
dc.contributor.authorLleó, Alberto
dc.contributor.authorFortea, Juan
dc.contributor.authorAlcolea, Daniel
dc.contributor.authorClarimon, Jordi
dc.contributor.authorNalls, Mike A.
dc.contributor.authorFerrucci, Luigi
dc.contributor.authorResnick, Susan M.
dc.contributor.authorTanaka, Toshiko
dc.contributor.authorForoud, Tatiana M.
dc.contributor.authorGraff-Radford, Neill R.
dc.contributor.authorWszolek, Zbigniew K.
dc.contributor.authorFerman, Tanis
dc.contributor.authorBoeve, Bradley F.
dc.contributor.authorHardy, John A.
dc.contributor.authorTopol, Eric J.
dc.contributor.authorTorkamani, Ali
dc.contributor.authorSingleton, Andrew B.
dc.contributor.authorRyten, Mina
dc.contributor.authorDickson, Dennis W.
dc.contributor.authorChiò, Adriano
dc.contributor.authorRoss, Owen A.
dc.contributor.authorGibbs, J. Raphael
dc.contributor.authorDalgard, Clifton L.
dc.contributor.authorTraynor, Bryan J.
dc.contributor.authorScholz, Sonja W.
dc.contributor.departmentPathology and Laboratory Medicine, School of Medicineen_US
dc.date.accessioned2023-02-22T13:56:07Z
dc.date.available2023-02-22T13:56:07Z
dc.date.issued2021-03
dc.description.abstractThe 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.en_US
dc.eprint.versionAuthor's manuscripten_US
dc.identifier.citationChia R, Sabir MS, Bandres-Ciga S, et al. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. Nat Genet. 2021;53(3):294-303. doi:10.1038/s41588-021-00785-3en_US
dc.identifier.urihttps://hdl.handle.net/1805/31374
dc.language.isoen_USen_US
dc.publisherSpringer Natureen_US
dc.relation.isversionof10.1038/s41588-021-00785-3en_US
dc.relation.journalNature Geneticsen_US
dc.rightsPublisher Policyen_US
dc.sourcePMCen_US
dc.subjectAlzheimer Diseaseen_US
dc.subjectGene expression profilingen_US
dc.subjectNuclear proteinsen_US
dc.subjectGlucosylceramidaseen_US
dc.subjectParkinson Diseaseen_US
dc.subjectTumor suppressor proteinsen_US
dc.subjectLewy Body Diseaseen_US
dc.titleGenome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architectureen_US
dc.typeArticleen_US
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