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dc.date.accessioned2022-01-24T19:36:17Z
dc.date.available2022-01-24T19:36:17Z
dc.date.created2021-12-20T13:58:17Z
dc.date.issued2021
dc.identifier.citationde Rojas, Itziar Moreno-Grau, Sonia Tesi, Niccolo Grenier-Boley, Benjamin Andrade, Victor Jansen, Iris E. Rongve, Arvid Aarsland, Dag Selbæk, Geir Saltvedt, Ingvild Sando, Sigrid Botne Djurovic, Srdjan Andreassen, Ole Pedersen, Nancy L. Stringa, Najada Zettergren, Anna Hernández, Isabel Montrreal, Laura Antunez, Carmen Antonell, Anna Tankard, Rick Bis, Joshua C. Sims, Rebecca Bellenguez, Celine Quintela, Inés González-Pérez, Antonio Calero, Miguel Franco-Macias, Emilio Macias, Juan Blesa, Rafael Cervera-Carles, Laura Menendez-Gonzalez, Manuel Frank-Garcia, Ana Royo, José Luis Moreno, Fermin Vilas, Raquel Huerto Baquero, Miquel Diez-Fairen, Monica Lage, Carmen García-Madrona, Sebastian Garcia-Gonzalez, Pablo Alarcón-Martín, Emilio Valero, Sergi Sotolongo-Grau, Oscar Ullgren, Abbe Naj, Adam C. Lemstra, Afina W. Benaque, Alba Perez-Cordon, Alba Benussi, Alberto Rabano, Alberto . Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores. Nature Communications. 2021, 12(3417)
dc.identifier.urihttp://hdl.handle.net/10852/90044
dc.description.abstractGenetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease.
dc.languageEN
dc.publisherNature Portfolio
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.titleCommon variants in Alzheimer’s disease and risk stratification by polygenic risk scores
dc.typeJournal article
dc.creator.authorde Rojas, Itziar
dc.creator.authorMoreno-Grau, Sonia
dc.creator.authorTesi, Niccolo
dc.creator.authorGrenier-Boley, Benjamin
dc.creator.authorAndrade, Victor
dc.creator.authorJansen, Iris E.
dc.creator.authorRongve, Arvid
dc.creator.authorAarsland, Dag
dc.creator.authorSelbæk, Geir
dc.creator.authorSaltvedt, Ingvild
dc.creator.authorSando, Sigrid Botne
dc.creator.authorDjurovic, Srdjan
dc.creator.authorAndreassen, Ole
dc.creator.authorPedersen, Nancy L.
dc.creator.authorStringa, Najada
dc.creator.authorZettergren, Anna
dc.creator.authorHernández, Isabel
dc.creator.authorMontrreal, Laura
dc.creator.authorAntunez, Carmen
dc.creator.authorAntonell, Anna
dc.creator.authorTankard, Rick
dc.creator.authorBis, Joshua C.
dc.creator.authorSims, Rebecca
dc.creator.authorBellenguez, Celine
dc.creator.authorQuintela, Inés
dc.creator.authorGonzález-Pérez, Antonio
dc.creator.authorCalero, Miguel
dc.creator.authorFranco-Macias, Emilio
dc.creator.authorMacias, Juan
dc.creator.authorBlesa, Rafael
dc.creator.authorCervera-Carles, Laura
dc.creator.authorMenendez-Gonzalez, Manuel
dc.creator.authorFrank-Garcia, Ana
dc.creator.authorRoyo, José Luis
dc.creator.authorMoreno, Fermin
dc.creator.authorVilas, Raquel Huerto
dc.creator.authorBaquero, Miquel
dc.creator.authorDiez-Fairen, Monica
dc.creator.authorLage, Carmen
dc.creator.authorGarcía-Madrona, Sebastian
dc.creator.authorGarcia-Gonzalez, Pablo
dc.creator.authorAlarcón-Martín, Emilio
dc.creator.authorValero, Sergi
dc.creator.authorSotolongo-Grau, Oscar
dc.creator.authorUllgren, Abbe
dc.creator.authorNaj, Adam C.
dc.creator.authorLemstra, Afina W.
dc.creator.authorBenaque, Alba
dc.creator.authorPerez-Cordon, Alba
dc.creator.authorBenussi, Alberto
dc.creator.authorRabano, Alberto
cristin.unitcode185,53,11,15
cristin.unitnameGeriatrisk avdeling
cristin.ispublishedtrue
cristin.fulltextoriginal
cristin.qualitycode2
dc.identifier.cristin1970580
dc.identifier.bibliographiccitationinfo:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Nature Communications&rft.volume=12&rft.spage=&rft.date=2021
dc.identifier.jtitleNature Communications
dc.identifier.volume12
dc.identifier.issue1
dc.identifier.doihttps://doi.org/10.1038/s41467-021-22491-8
dc.identifier.urnURN:NBN:no-92641
dc.type.documentTidsskriftartikkel
dc.type.peerreviewedPeer reviewed
dc.source.issn2041-1723
dc.identifier.fulltextFulltext https://www.duo.uio.no/bitstream/handle/10852/90044/1/de%2BRojas%2B2021%2Bs41467-021-22491-8.pdf
dc.type.versionPublishedVersion
cristin.articleid3417


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