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

dc.creatorChia R., Sabir M.S., Bandres-Ciga S., Saez-Atienzar S., Reynolds R.H., Gustavsson E., Walton R.L., Ahmed S., Viollet C., Ding J., Makarious M.B., Diez-Fairen M., Portley M.K., Shah Z., Abramzon Y., Hernandez D.G., Blauwendraat C., Stone D.J., Eicher J., Parkkinen L., Ansorge O., Clark L., Honig L.S., Marder K., Lemstra A., St George-Hyslop P., Londos E., Morgan K., Lashley T., Warner T.T., Jaunmuktane Z., Galasko D., Santana I., Tienari P.J., Myllykangas L., Oinas M., Cairns N.J., Morris J.C., Halliday G.M., Van Deerlin V.M., Trojanowski J.Q., Grassano M., Calvo A., Mora G., Canosa A., Floris G., Bohannan R.C., Brett F., Gan-Or Z., Geiger J.T., Moore A., May P., Krüger R., Goldstein D.S., Lopez G., Tayebi N., Sidransky E., Sotis A.R., Sukumar G., Alba C., Lott N., Martinez E.M.G., Tuck M., Singh J., Bacikova D., Zhang X., Hupalo D.N., Adeleye A., Wilkerson M.D., Pollard H.B., Norcliffe-Kaufmann L., Palma J.-A., Kaufmann H., Shakkottai V.G., Perkins M., Newell K.L., Gasser T., Schulte C., Landi F., Salvi E., Cusi D., Masliah E., Kim R.C., Caraway C.A., Monuki E.S., Brunetti M., Dawson T.M., Rosenthal L.S., Albert M.S., Pletnikova O., Troncoso J.C., Flanagan M.E., Mao Q., Bigio E.H., Rodríguez-Rodríguez E., Infante J., Lage C., González-Aramburu I., Sanchez-Juan P., Ghetti B., Keith J., Black S.E., Masellis M., Rogaeva E., Duyckaerts C., Brice A., Lesage S., Xiromerisiou G., Barrett M.J., Tilley B.S., Gentleman S., Logroscino G., Serrano G.E., Beach T.G., McKeith I.G., Thomas A.J., Attems J., Morris C.M., Palmer L., Love S., Troakes C., Al-Sarraj S., Hodges A.K., Aarsland D., Klein G., Kaiser S.M., Woltjer R., Pastor P., Bekris L.M., Leverenz J.B., Besser L.M., Kuzma A., Renton A.E., Goate A., Bennett D.A., Scherzer C.R., Morris H.R., Ferrari R., Albani D., Pickering-Brown S., Faber K., Kukull W.A., Morenas-Rodriguez E., Lleó A., Fortea J., Alcolea D., Clarimon J., Nalls M.A., Ferrucci L., Resnick S.M., Tanaka T., Foroud T.M., Graff-Radford N.R., Wszolek Z.K., Ferman T., Boeve B.F., Hardy J.A., Topol E.J., Torkamani A., Singleton A.B., Ryten M., Dickson D.W., Chiò A., Ross O.A., Gibbs J.R., Dalgard C.L., Traynor B.J., Scholz S.W., The American Genome Centeren
dc.date.accessioned2023-01-31T07:45:26Z
dc.date.available2023-01-31T07:45:26Z
dc.date.issued2021
dc.identifier10.1038/s41588-021-00785-3
dc.identifier.issn10614036
dc.identifier.urihttp://hdl.handle.net/11615/72797
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. © 2021, This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply.en
dc.language.isoenen
dc.sourceNature Geneticsen
dc.source.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85101937262&doi=10.1038%2fs41588-021-00785-3&partnerID=40&md5=5a679c258f554487c1813fd3e8da6429
dc.subjectAlzheimer diseaseen
dc.subjectArticleen
dc.subjectdiffuse Lewy body diseaseen
dc.subjectgene locusen
dc.subjectgene mutationen
dc.subjectgene sequenceen
dc.subjectgenetic risk scoreen
dc.subjectgenetic susceptibilityen
dc.subjectgenome analysisen
dc.subjectgenome-wide association studyen
dc.subjecthumanen
dc.subjectParkinson diseaseen
dc.subjectpriority journalen
dc.subjectwhole genome sequencingen
dc.subjectcase control studyen
dc.subjectclinical trialen
dc.subjectdiffuse Lewy body diseaseen
dc.subjectgene expression profilingen
dc.subjectgenetic predispositionen
dc.subjectgeneticsen
dc.subjectgenome-wide association studyen
dc.subjecthuman genomeen
dc.subjectmulticenter studyen
dc.subjectsingle nucleotide polymorphismen
dc.subjectalpha synucleinen
dc.subjectBIN1 protein, humanen
dc.subjectGBA protein, humanen
dc.subjectglucosylceramidaseen
dc.subjectnuclear proteinen
dc.subjectsignal transducing adaptor proteinen
dc.subjectSNCA protein, humanen
dc.subjecttumor suppressor proteinen
dc.subjectAdaptor Proteins, Signal Transducingen
dc.subjectalpha-Synucleinen
dc.subjectAlzheimer Diseaseen
dc.subjectCase-Control Studiesen
dc.subjectGene Expression Profilingen
dc.subjectGenetic Predisposition to Diseaseen
dc.subjectGenome, Humanen
dc.subjectGenome-Wide Association Studyen
dc.subjectGlucosylceramidaseen
dc.subjectHumansen
dc.subjectLewy Body Diseaseen
dc.subjectNuclear Proteinsen
dc.subjectParkinson Diseaseen
dc.subjectPolymorphism, Single Nucleotideen
dc.subjectTumor Suppressor Proteinsen
dc.subjectNature Researchen
dc.titleGenome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architectureen
dc.typejournalArticleen


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