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Repisalud author de Rojas, Itziar author Moreno-Grau, Sonia author Tesi, Niccolo author Grenier-Boley, Benjamin author Andrade, Victor author Jansen, Iris E author Pedersen, Nancy L author Stringa, Najada author Zettergren, Anna author Hernández, Isabel author Montrreal, Laura author Antúnez, Carmen author Antonell, Anna author Tankard, Rick M author Bis, Joshua C author Sims, Rebecca author Bellenguez, Céline author Quintela, Inés author González-Peréz, Antonio author Calero, Miguel author Franco-Macías, Emilio author Macías, Juan author Blesa, Rafael author Cervera-Carles, Laura author Menéndez-González, Manuel author Frank-García, Ana author Royo, José Luis author Moreno, Fermin author Huerto Vilas, Raquel author Baquero, Miquel author Diez-Fairen, Mónica author Lage, Carmen author García-Madrona, Sebastián author García-González, Pablo author Alarcón-Martín, Emilio author Valero, Sergi author Sotolongo-Grau, Oscar author Ullgren, Abbe author Naj, Adam C author Lemstra, Afina W author Benaque, Alba author Pérez-Cordón, Alba author Benussi, Alberto author Rábano, Alberto author Padovani, Alessandro author Squassina, Alessio author de Mendonça, Alexandre author Arias Pastor, Alfonso author Kok, Almar A L author Meggy, Alun author Pastor, Ana Belén author Espinosa, Ana author Corma-Gómez, Anaïs author Martín Montes, Angel author Sanabria, Ángela author DeStefano, Anita L author Schneider, Anja author Haapasalo, Annakaisa author Kinhult Ståhlbom, Anne author Tybjærg-Hansen, Anne author Hartmann, Annette M author Spottke, Annika author Corbatón-Anchuelo, Arturo author Rongve, Arvid author Borroni, Barbara author Arosio, Beatrice author Nacmias, Benedetta author Nordestgaard, Børge G author Kunkle, Brian W author Charbonnier, Camille author Abdelnour, Carla author Masullo, Carlo author Martínez Rodríguez, Carmen author Muñoz-Fernandez, Carmen author Dufouil, Carole author Graff, Caroline author Ferreira, Catarina B author Chillotti, Caterina author Reynolds, Chandra A author Fenoglio, Chiara author Van Broeckhoven, Christine author Clark, Christopher author Pisanu, Claudia author Satizabal, Claudia L author Holmes, Clive author Buiza-Rueda, Dolores author Aarsland, Dag author Rujescu, Dan author Alcolea, Daniel author Galimberti, Daniela author Wallon, David author Seripa, Davide author Grünblatt, Edna author Dardiotis, Efthimios author Düzel, Emrah author Scarpini, Elio author Conti, Elisa author Rubino, Elisa author Gelpi, Ellen author Rodriguez-Rodriguez, Eloy author Duron, Emmanuelle author Boerwinkle, Eric author Ferri, Evelyn author Tagliavini, Fabrizio author Küçükali, Fahri author Pasquier, Florence author Sanchez-Garcia, Florentino author Mangialasche, Francesca author Jessen, Frank author Nicolas, Gaël author Selbæk, Geir author Ortega, Gemma author Chêne, Geneviève author Hadjigeorgiou, Georgios author Rossi, Giacomina author Spalletta, Gianfranco author Giaccone, Giorgio author Grande, Giulia author Binetti, Giuliano author Papenberg, Goran author Hampel, Harald author Bailly, Henri author Zetterberg, Henrik author Soininen, Hilkka author Karlsson, Ida K author Alvarez, Ignacio author Appollonio, Ildebrando author Giegling, Ina author Skoog, Ingmar author Saltvedt, Ingvild author Rainero, Innocenzo author Rosas Allende, Irene author Hort, Jakub author Diehl-Schmid, Janine author Van Dongen, Jasper author Vidal, Jean-Sébastien author Lehtisalo, Jenni author Wiltfang, Jens author Thomassen, Jesper Qvist author Kornhuber, Johannes author Haines, Jonathan L author Vogelgsang, Jonathan author Pineda, Juan A author Fortea, Juan author Popp, Julius author Deckert, Jürgen author Buerger, Katharina author Morgan, Kevin author Fließbach, Klaus author Sleegers, Kristel author Molina-Porcel, Laura author Kilander, Lena author Weinhold, Leonie author Farrer, Lindsay A author Wang, Li-San author Kleineidam, Luca author Farotti, Lucia author Parnetti, Lucilla author Tremolizzo, Lucio author Hausner, Lucrezia author Benussi, Luisa author Froelich, Lutz author Ikram, M Arfan author Deniz-Naranjo, M Candida author Tsolaki, Magda author Rosende-Roca, Maitée author Löwenmark, Malin author Hulsman, Marc author Spallazzi, Marco author Pericak-Vance, Margaret A author Esiri, Margaret author Bernal Sánchez-Arjona, María author Dalmasso, Maria Carolina author Martínez-Larrad, María Teresa author Arcaro, Marina author Nöthen, Markus M author Fernández-Fuertes, Marta author Dichgans, Martin author Ingelsson, Martin author Herrmann, Martin J author Scherer, Martin author Vyhnalek, Martin author Kosmidis, Mary H author Yannakoulia, Mary author Schmid, Matthias author Ewers, Michael author Heneka, Michael T author Wagner, Michael author Scamosci, Michela author Kivipelto, Miia author Hiltunen, Mikko author Zulaica, Miren author Alegret, Montserrat author Fornage, Myriam author Roberto, Natalia author van Schoor, Natasja M author Seidu, Nazib M author Banaj, Nerisa author Armstrong, Nicola J author Scarmeas, Nikolaos author Scherbaum, Norbert author Goldhardt, Oliver author Hanon, Oliver author Peters, Oliver author Skrobot, Olivia Anna author Quenez, Olivier author Lerch, Ondrej author Bossù, Paola author Caffarra, Paolo author Dionigi Rossi, Paolo author Sakka, Paraskevi author Hoffmann, Per author Holmans, Peter A author Fischer, Peter author Riederer, Peter author Yang, Qiong author Marshall, Rachel author Kalaria, Rajesh N author Mayeux, Richard author Vandenberghe, Rik author Cecchetti, Roberta author Ghidoni, Roberta author Frikke-Schmidt, Ruth author Sorbi, Sandro author Hägg, Sara author Engelborghs, Sebastiaan author Helisalmi, Seppo author Botne Sando, Sigrid author Kern, Silke author Archetti, Silvana author Boschi, Silvia author Fostinelli, Silvia author Gil, Silvia author Mendoza, Silvia author Mead, Simon author Ciccone, Simona author Djurovic, Srdjan author Heilmann-Heimbach, Stefanie author Riedel-Heller, Steffi author Kuulasmaa, Teemu author Del Ser, Teodoro author Lebouvier, Thibaud author Polak, Thomas author Ngandu, Tiia author Grimmer, Timo author Bessi, Valentina author Escott-Price, Valentina author Giedraitis, Vilmantas author Deramecourt, Vincent author Maier, Wolfgang author Jian, Xueqiu author Pijnenburg, Yolande A L author Kehoe, Patrick Gavin author Garcia-Ribas, Guillermo author Sánchez-Juan, Pascual author Pastor, Pau author Pérez-Tur, Jordi author Piñol-Ripoll, Gerard author Lopez de Munain, Adolfo author García-Alberca, Jose María author Bullido, María Jesús author Álvarez, Victoria author Lleó, Alberto author Real, Luis M author Mir, Pablo author Medina, Miguel author Scheltens, Philip author Holstege, Henne author Marquié, Marta author Sáez, María Eugenia author Carracedo, Ángel author Amouyel, Philippe author Schellenberg, Gerard D author Williams, Julie author Seshadri, Sudha author van Duijn, Cornelia M author Mather, Karen A author Sánchez-Valle, Raquel author Serrano-Ríos, Manuel author Orellana, Adelina author Tárraga, Lluís author Blennow, Kaj author Huisman, Martijn author Andreassen, Ole A author Posthuma, Danielle author Clarimón, Jordi author Boada, Mercè author van der Flier, Wiesje M author Ramirez, Alfredo author Lambert, Jean-Charles author van der Lee, Sven J author Ruiz, Agustín funder Instituto de Salud Carlos III funder Unión Europea. Comisión Europea funder Fundació ACE funder Fundación La Caixa funder Grifols (Spain) funder Centro de Investigación Biomedica en Red - CIBER funder Stichting Alzheimer Nederland funder Stichting Diorapthe 2021-12-13T18:42:31Z 2021-12-13T18:42:31Z 2021-06-07 Nat Commun. 2021 Jun 7;12(1):3417. 10.1038/s41467-021-22491-8 2041-1723 Nature Communications 34099642 http://hdl.handle.net/20.500.12105/13491 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. eng Common variants in Alzheimer's disease and risk stratification by polygenic risk scores research article 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 URL https://repisalud.isciii.es/bitstreams/9d9427f2-9a98-46b4-af65-1e15b9bd5841/download File MD5 1b77d4d1e227c96728cee4ab65af78d1 4494160 application/pdf CommonVariantsInAlzheimer_2021.pdf URL https://repisalud.isciii.es/bitstreams/282a2ab5-23ec-47ed-9c32-5c386c99fadf/download File MD5 9f95c8c982debca4e2d10223d103fc50 2135709 application/pdf Correction_CommonVariantsAlzheimersDisease_2023.pdf URL https://repisalud.isciii.es/bitstreams/ba42a941-c000-43fd-aef9-dba5ce977b40/download File MD5 b64a99ad0b983d88b097c7749b171638 104758 text/plain CommonVariantsInAlzheimer_2021.pdf.txt URL https://repisalud.isciii.es/bitstreams/f1a80db3-d723-467d-9cf9-7cd41356edc1/download File MD5 6b586d72d459d99d29795c718a2057a6 7736 text/plain Correction_CommonVariantsAlzheimersDisease_2023.pdf.txt