Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
dc.date.accessioned | 2022-01-24T19:36:17Z | |
dc.date.available | 2022-01-24T19:36:17Z | |
dc.date.created | 2021-12-20T13:58:17Z | |
dc.date.issued | 2021 | |
dc.identifier.citation | de 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.uri | http://hdl.handle.net/10852/90044 | |
dc.description.abstract | Genetic 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.language | EN | |
dc.publisher | Nature Portfolio | |
dc.rights | Attribution 4.0 International | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | |
dc.title | Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores | |
dc.type | Journal article | |
dc.creator.author | de Rojas, Itziar | |
dc.creator.author | Moreno-Grau, Sonia | |
dc.creator.author | Tesi, Niccolo | |
dc.creator.author | Grenier-Boley, Benjamin | |
dc.creator.author | Andrade, Victor | |
dc.creator.author | Jansen, Iris E. | |
dc.creator.author | Rongve, Arvid | |
dc.creator.author | Aarsland, Dag | |
dc.creator.author | Selbæk, Geir | |
dc.creator.author | Saltvedt, Ingvild | |
dc.creator.author | Sando, Sigrid Botne | |
dc.creator.author | Djurovic, Srdjan | |
dc.creator.author | Andreassen, Ole | |
dc.creator.author | Pedersen, Nancy L. | |
dc.creator.author | Stringa, Najada | |
dc.creator.author | Zettergren, Anna | |
dc.creator.author | Hernández, Isabel | |
dc.creator.author | Montrreal, Laura | |
dc.creator.author | Antunez, Carmen | |
dc.creator.author | Antonell, Anna | |
dc.creator.author | Tankard, Rick | |
dc.creator.author | Bis, Joshua C. | |
dc.creator.author | Sims, Rebecca | |
dc.creator.author | Bellenguez, Celine | |
dc.creator.author | Quintela, Inés | |
dc.creator.author | González-Pérez, Antonio | |
dc.creator.author | Calero, Miguel | |
dc.creator.author | Franco-Macias, Emilio | |
dc.creator.author | Macias, Juan | |
dc.creator.author | Blesa, Rafael | |
dc.creator.author | Cervera-Carles, Laura | |
dc.creator.author | Menendez-Gonzalez, Manuel | |
dc.creator.author | Frank-Garcia, Ana | |
dc.creator.author | Royo, José Luis | |
dc.creator.author | Moreno, Fermin | |
dc.creator.author | Vilas, Raquel Huerto | |
dc.creator.author | Baquero, Miquel | |
dc.creator.author | Diez-Fairen, Monica | |
dc.creator.author | Lage, Carmen | |
dc.creator.author | García-Madrona, Sebastian | |
dc.creator.author | Garcia-Gonzalez, Pablo | |
dc.creator.author | Alarcón-Martín, Emilio | |
dc.creator.author | Valero, Sergi | |
dc.creator.author | Sotolongo-Grau, Oscar | |
dc.creator.author | Ullgren, Abbe | |
dc.creator.author | Naj, Adam C. | |
dc.creator.author | Lemstra, Afina W. | |
dc.creator.author | Benaque, Alba | |
dc.creator.author | Perez-Cordon, Alba | |
dc.creator.author | Benussi, Alberto | |
dc.creator.author | Rabano, Alberto | |
cristin.unitcode | 185,53,11,15 | |
cristin.unitname | Geriatrisk avdeling | |
cristin.ispublished | true | |
cristin.fulltext | original | |
cristin.qualitycode | 2 | |
dc.identifier.cristin | 1970580 | |
dc.identifier.bibliographiccitation | info: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.jtitle | Nature Communications | |
dc.identifier.volume | 12 | |
dc.identifier.issue | 1 | |
dc.identifier.doi | https://doi.org/10.1038/s41467-021-22491-8 | |
dc.identifier.urn | URN:NBN:no-92641 | |
dc.type.document | Tidsskriftartikkel | |
dc.type.peerreviewed | Peer reviewed | |
dc.source.issn | 2041-1723 | |
dc.identifier.fulltext | Fulltext https://www.duo.uio.no/bitstream/handle/10852/90044/1/de%2BRojas%2B2021%2Bs41467-021-22491-8.pdf | |
dc.type.version | PublishedVersion | |
cristin.articleid | 3417 |
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