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Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

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dc.contributor.author de-Rojas, Itziar
dc.contributor.author Moreno-Grau, Sonia
dc.contributor.author Tesi, Niccolo
dc.contributor.author Grenier-Boley, Benjamin
dc.contributor.author Andrade, Victor
dc.contributor.author Jansen, Iris-E
dc.contributor.author Pedersen, Nancy-L
dc.contributor.author Stringa, Najada
dc.contributor.author Zettergren, Anna
dc.contributor.author Hernández, Isabel
dc.contributor.author Montrreal, Laura
dc.contributor.author Antúnez-Almagro, Carmen
dc.contributor.author Antonell, Anna
dc.contributor.author Tankard, Rick-M
dc.contributor.author Bis, Joshua-C
dc.contributor.author Sims, Rebecca
dc.contributor.author Bellenguez, Celine
dc.contributor.author Quintela, Inés
dc.contributor.author González-Pérez, Antonio
dc.contributor.author Calero, Miguel
dc.contributor.author Franco-Macías, Emilio
dc.contributor.author Macías, Juan
dc.contributor.author Blesa, Rafael
dc.contributor.author Cervera-Carles, Laura
dc.contributor.author Menéndez-González, Manuel
dc.contributor.author Frank-García, Ana
dc.contributor.author Luis-Royo, José
dc.contributor.author Moreno, Fermin
dc.contributor.author Huerto-Vilas, Raquel
dc.contributor.author Baquero, Miquel
dc.contributor.author Diez-Fairen, Mónica
dc.contributor.author Lage, Carmen
dc.contributor.author García-Madrona, Sebastián
dc.contributor.author García-González, Pablo
dc.contributor.author Alarcón-Martín, Emilio
dc.contributor.author Valero, Sergi
dc.contributor.author Sotolongo-Grau, Óscar
dc.contributor.author Ullgren, Abbe
dc.contributor.author Naj, Adam-C
dc.contributor.author Lemstra, Afina-W
dc.contributor.author Benaque, Alba
dc.contributor.author Pérez-Cordon, Alba
dc.contributor.author Benussi, Alberto
dc.contributor.author Rabano, Alberto
dc.contributor.author Padovani, Alessandro
dc.contributor.author Squassina, Alessio
dc.contributor.author de-Mendonca, Alexandre
dc.contributor.author Arias-Pastor, Alfonso
dc.contributor.author Kok, Almar-AL
dc.contributor.author Meggy, Alun
dc.contributor.author Belén-Pastor, Ana
dc.contributor.author Espinosa, Ana
dc.contributor.author Corma-Gómez, Anais
dc.contributor.author Martín-Montes, Ángel
dc.contributor.author Sanabria, Ángela
dc.contributor.author DeStefano, Anita-L
dc.contributor.author Schneider, Anja
dc.contributor.author Haapasalo, Annakaisa
dc.contributor.author Stahlbom, Anne-Kinhult
dc.contributor.author Tybjaerg-Hansen, Anne
dc.contributor.author Hartmann, Annette-M
dc.contributor.author Spottke, Annika
dc.contributor.author Corbaton-Anchuelo, Arturo
dc.contributor.author Rongve, Arvid
dc.contributor.author Borroni, Barbara
dc.contributor.author Arosio, Beatrice
dc.contributor.author Nacmias, Benedetta
dc.contributor.author Nordestgaard, Borge-G
dc.contributor.author Kunkle, Brian-W
dc.contributor.author Charbonnier, Camille
dc.contributor.author Abdelnour, Carla
dc.contributor.author Masullo, Carlo
dc.contributor.author Martínez-Rodríguez, Carmen
dc.contributor.author Muñoz-Fernández, Carmen
dc.contributor.author Dufouil, Carole
dc.contributor.author Graff, Caroline
dc.contributor.author Ferreira, Catarina-B
dc.contributor.author Chillotti, Caterina
dc.contributor.author Reynolds, Chandra-A
dc.contributor.author Fenoglio, Chiara
dc.contributor.author Van-Broeckhoven, Christine
dc.contributor.author Clark, Christopher
dc.contributor.author Pisanu, Claudia
dc.contributor.author Satizabal, Claudia-L
dc.contributor.author Holmes, Clive
dc.contributor.author Buiza-Rueda, Dolores
dc.contributor.author Aarsland, Dag
dc.contributor.author Rujescu, Dan
dc.contributor.author Alcolea, Daniel
dc.contributor.author Galimberti, Daniela
dc.contributor.author Wallon, David
dc.contributor.author Seripa, Davide
dc.contributor.author Gruenblatt, Edna
dc.contributor.author Dardiotis, Efthimios
dc.contributor.author Duezel, Emrah
dc.contributor.author Scarpini, Elio
dc.contributor.author Conti, Elisa
dc.contributor.author Rubino, Elisa
dc.contributor.author Gelpi, Ellen
dc.contributor.author Rodríguez-Rodríguez, Eloy
dc.contributor.author Duron, Emmanuelle
dc.contributor.author Boerwinkle, Eric
dc.contributor.author Ferri, Evelyn
dc.contributor.author Tagliavini, Fabrizio
dc.contributor.author Kucukali, Fahri
dc.contributor.author Pasquier, Florence
dc.contributor.author Sánchez-García, Florentino
dc.contributor.author Mangialasche, Francesca
dc.contributor.author Jessen, Frank
dc.contributor.author Nicolás, Gael
dc.contributor.author Selbaek, Geir
dc.contributor.author Ortega, Gemma
dc.contributor.author Chene, Genevieve
dc.contributor.author Hadjigeorgiou, Georgios
dc.contributor.author Rossi, Giacomina
dc.contributor.author Spalletta, Gianfranco
dc.contributor.author Giaccone, Giorgio
dc.contributor.author Grande, Giulia
dc.contributor.author Binetti, Giuliano
dc.contributor.author Papenberg, Goran
dc.contributor.author Hampel, Harald
dc.contributor.author Bailly, Henri
dc.contributor.author Zetterberg, Henrik
dc.contributor.author Soininen, Hilkka
dc.contributor.author Karlsson, Ida-K
dc.contributor.author Álvarez, Ignacio
dc.contributor.author Appollonio, Ildebrando
dc.contributor.author Giegling, Ina
dc.contributor.author Skoog, Ingmar
dc.contributor.author Saltvedt, Ingvild
dc.contributor.author Rainero, Innocenzo
dc.contributor.author Allende, Irene-Rosas
dc.contributor.author Hort, Jakub
dc.contributor.author Diehl-Schmid, Janine
dc.contributor.author Van-Dongen, Jasper
dc.contributor.author Vidal, Jean-Sebastien
dc.contributor.author Lehtisalo, Jenni
dc.contributor.author Wiltfang, Jens
dc.contributor.author Thomassen, Jesper-Qvist
dc.contributor.author Kornhuber, Johannes
dc.contributor.author Haines, Jonathan-L
dc.contributor.author Vogelgsang, Jonathan
dc.contributor.author Pineda, Juan-A
dc.contributor.author Fortea, Juan
dc.contributor.author Popp, Julius
dc.contributor.author Deckert, Juergen
dc.contributor.author Buerger, Katharina
dc.contributor.author Morgan, Kevin
dc.contributor.author Fliessbach, Klaus
dc.contributor.author Sleegers, Kristel
dc.contributor.author Molina-Porcel, Laura
dc.contributor.author Kilander, Lena
dc.contributor.author Weinhold, Leónie
dc.contributor.author Farrer, Lindsay-A
dc.contributor.author Wang, Li-San
dc.contributor.author Kleineidam, Luca
dc.contributor.author Farotti, Lucía
dc.contributor.author Parnetti, Lucilla
dc.contributor.author Tremolizzo, Lucio
dc.contributor.author Hausner, Lucrezia
dc.contributor.author Benussi, Luisa
dc.contributor.author Froelich, Lutz
dc.contributor.author Ikram, MArfan
dc.contributor.author Deniz-Naranjo, MCandida
dc.contributor.author Tsolaki, Magda
dc.contributor.author Rosende-Roca, Maitee
dc.contributor.author Lowenmark, Malin
dc.contributor.author Hulsman, Marc
dc.contributor.author Spallazzi, Marco
dc.contributor.author Pericak-Vance, Margaret-A
dc.contributor.author Esiri, Margaret
dc.contributor.author Sánchez-Arjona, María-Bernal
dc.contributor.author Carolina-Dalmasso, María
dc.contributor.author Teresa-Martínez-Larrad, María
dc.contributor.author Arcaro, Marina
dc.contributor.author Noethen, Markus-M
dc.contributor.author Fernández-Fuertes, Marta
dc.contributor.author Dichgans, Martín
dc.contributor.author Ingelsson, Martín
dc.contributor.author Herrmann, Martín-J
dc.contributor.author Scherer, Martín
dc.contributor.author Vyhnalek, Martín
dc.contributor.author Kosmidis, Mary-H
dc.contributor.author Yannakoulia, Mary
dc.contributor.author Schmid, Matthias
dc.contributor.author Ewers, Michael
dc.contributor.author Heneka, Michael-T
dc.contributor.author Wagner, Michael
dc.contributor.author Scamosci, Michela
dc.contributor.author Kivipelto, Miia
dc.contributor.author Hiltunen, Mikko
dc.contributor.author Zulaica, Miren
dc.contributor.author Alegret, Montserrat
dc.contributor.author Fornage, Myriam
dc.contributor.author Roberto, Natalia
dc.contributor.author van-Schoor, Natasja-M
dc.contributor.author Seidu, Nazib-M
dc.contributor.author Banaj, Nerisa
dc.contributor.author Armstrong, Nicola-J
dc.contributor.author Scarmeas, Nikolaos
dc.contributor.author Scherbaum, Norbert
dc.contributor.author Goldhardt, Oliver
dc.contributor.author Hanon, Oliver
dc.contributor.author Peters, Oliver
dc.contributor.author Skrobot, Olivia-Anna
dc.contributor.author Quenez, Olivier
dc.contributor.author Lerch, Ondrej
dc.contributor.author Bossu, Paola
dc.contributor.author Caffarra, Paolo
dc.contributor.author Rossi, Paolo-Dionigi
dc.contributor.author Sakka, Paraskevi
dc.contributor.author Hoffmann, Per
dc.contributor.author Holmans, Peter-A
dc.contributor.author Fischer, Peter
dc.contributor.author Riederer, Peter
dc.contributor.author Yang, Qiong
dc.contributor.author Marshall, Rachel
dc.contributor.author Kalaria, Rajesh-N
dc.contributor.author Mayeux, Richard
dc.contributor.author Vandenberghe, Rik
dc.contributor.author Cecchetti, Roberta
dc.contributor.author Ghidoni, Roberta
dc.contributor.author Frikke-Schmidt, Ruth
dc.contributor.author Sorbi, Sandro
dc.contributor.author Hagg, Sara
dc.contributor.author Engelborghs, Sebastiaan
dc.contributor.author Helisalmi, Seppo
dc.contributor.author Sando, Sigrid-Botne
dc.contributor.author Kern, Silke
dc.contributor.author Archetti, Silvana
dc.contributor.author Boschi, Silvia
dc.contributor.author Fostinelli, Silvia
dc.contributor.author Gil, Silvia
dc.contributor.author Mendoza, Silvia
dc.contributor.author Mead, Simon
dc.contributor.author Ciccone, Simona
dc.contributor.author Djurovic, Srdjan
dc.contributor.author Heilmann-Heimbach, Stefanie
dc.contributor.author Riedel-Heller, Steffi
dc.contributor.author Kuulasmaa, Teemu
dc.contributor.author del-Ser, Teodoro
dc.contributor.author Lebouvier, Thibaud
dc.contributor.author Polak, Thomas
dc.contributor.author Ngandu, Tiia
dc.contributor.author Grimmer, Timo
dc.contributor.author Bessi, Valentina
dc.contributor.author Escott-Price, Valentina
dc.contributor.author Giedraitis, Vilmantas
dc.contributor.author Deramecourt, Vincent
dc.contributor.author Maier, Wolfgang
dc.contributor.author Jian, Xueqiu
dc.contributor.author Pijnenburg, Yolande-AL
dc.contributor.author Smith, ADavid
dc.contributor.author Abdelnour, C
dc.contributor.author Adarmes-Gómez, AD
dc.contributor.author Macleod, C
dc.contributor.author Jansen, Iris-E
dc.contributor.author Kehoe, Patrick-Gavin
dc.contributor.author García-Ribas, Guillermo
dc.contributor.author Sánchez-Juan, Pascual
dc.contributor.author Pastor, Pau
dc.contributor.author Pérez-Tur, Jordi
dc.contributor.author Piñol-Ripoll, Gerard
dc.contributor.author de-Munain, Adolfo-López
dc.contributor.author María-García-Alberca, José
dc.contributor.author Bullido, María-J
dc.contributor.author Álvarez, Victoria
dc.contributor.author Lleo, Alberto
dc.contributor.author Real, Luis-M
dc.contributor.author Mir, Pablo
dc.contributor.author Medina, Miguel
dc.contributor.author Scheltens, Philip
dc.contributor.author Holstege, Henne
dc.contributor.author Marquie, Marta
dc.contributor.author Eugenia-Saez, María
dc.contributor.author Carracedo, Ángel
dc.contributor.author Amouyel, Philippe
dc.contributor.author Schellenberg, Gerard-D
dc.contributor.author Williams, Julie
dc.contributor.author Seshadri, Sudha
dc.contributor.author van-Duijn, Cornelia-M
dc.contributor.author Mather, Karen-A
dc.contributor.author Sánchez-Valle, Raquel
dc.contributor.author Serrano-Rios, Manuel
dc.contributor.author Orellana, Adelina
dc.contributor.author Tárraga, Lluis
dc.contributor.author Blennow, Kaj
dc.contributor.author Huisman, Martijn
dc.contributor.author Andreassen, Ole-A
dc.contributor.author Posthuma, Danielle
dc.contributor.author Clarimon, Jordi
dc.contributor.author Boada, Merce
dc.contributor.author van-der-Flier, Wiesje-M
dc.contributor.author Ramirez, Alfredo
dc.contributor.author Lambert, Jean-Charles
dc.contributor.author van-der-Lee, Sven-J
dc.contributor.author Ruiz, Agustín
dc.date.accessioned 2025-11-27T09:28:35Z
dc.date.available 2025-11-27T09:28:35Z
dc.date.issued 2021-06
dc.identifier.citation De Rojas I, Moreno-Grau S, Tesi N, Grenier-Boley B, Andrade V, Jansen IE, et al. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nat Commun. 7 de junio de 2021;12(1):3417.
dc.identifier.uri https://sms.carm.es/ricsmur/handle/123456789/22760
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 ?4 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.iso eng
dc.publisher NATURE PORTFOLIO
dc.rights Atribución/Reconocimiento-NoComercial-SinDerivados 4.0 Internacional
dc.rights.uri http://creativecommons.org/licenses/by-nc-nd/4.0/ *
dc.subject.mesh Age of Onset
dc.subject.mesh Aged
dc.subject.mesh Aged, 80 and over
dc.subject.mesh Alzheimer Disease/epidemiology/genetics/pathology
dc.subject.mesh Amyloid beta-Protein Precursor/genetics/metabolism
dc.subject.mesh Apolipoproteins E/genetics
dc.subject.mesh Case-Control Studies
dc.subject.mesh Cohort Studies
dc.subject.mesh Datasets as Topic
dc.subject.mesh Female
dc.subject.mesh Follow-Up Studies
dc.subject.mesh Genetic Predisposition to Disease
dc.subject.mesh Genome-Wide Association Study
dc.subject.mesh Heterozygote
dc.subject.mesh Humans
dc.subject.mesh Male
dc.subject.mesh Middle Aged
dc.subject.mesh Multifactorial Inheritance
dc.subject.mesh Polymorphism, Single Nucleotide
dc.subject.mesh Risk Assessment/methods
dc.subject.mesh Risk Factors
dc.title Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
dc.type info:eu-repo/semantics/article
dc.identifier.pmid 34099642
dc.relation.publisherversion https://www.nature.com/articles/s41467-021-22491-8
dc.identifier.doi 10.1038/s41467-021-22491-8
dc.journal.title Nature Communications
dc.identifier.essn 2041-1723


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Atribución/Reconocimiento-NoComercial-SinDerivados 4.0 Internacional Excepto si se señala otra cosa, la licencia del ítem se describe como Atribución/Reconocimiento-NoComercial-SinDerivados 4.0 Internacional

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