Please use this identifier to cite or link to this item:http://hdl.handle.net/20.500.12105/13491
Title
Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
Author(s)
de Rojas, Itziar | Moreno-Grau, Sonia | Tesi, Niccolo | Grenier-Boley, Benjamin | Andrade, Victor | Jansen, Iris E | Pedersen, Nancy L | Stringa, Najada | Zettergren, Anna | Hernández, Isabel | Montrreal, Laura | Antúnez, Carmen | Antonell, Anna | Tankard, Rick M | Bis, Joshua C | Sims, Rebecca | Bellenguez, Céline | Quintela, Inés | González-Perez, Antonio | Calero, Miguel ISCIII | Franco-Macías, Emilio | Macías, Juan | Blesa, Rafael | Cervera-Carles, Laura | Menéndez-González, Manuel | Frank-García, Ana | Royo, Jose Luís | Moreno, Fermin | Huerto Vilas, Raquel | Baquero, Miquel | Diez-Fairen, Mónica | Lage, Carmen | García-Madrona, Sebastián | García-González, Pablo | Alarcón-Martín, Emilio | Valero, Sergi | Sotolongo-Grau, Oscar | Ullgren, Abbe | Naj, Adam C | Lemstra, Afina W | Benaque, Alba | Pérez-Cordón, Alba | Benussi, Alberto | Rábano, Alberto | Padovani, Alessandro | Squassina, Alessio | de Mendonça, Alexandre | Arias Pastor, Alfonso | Kok, Almar A L | Meggy, Alun | Pastor, Ana Belén | Espinosa, Ana | Corma-Gómez, Anaïs | Martín Montes, Angel | Sanabria, Ángela | DeStefano, Anita L | Schneider, Anja | Haapasalo, Annakaisa | Kinhult Ståhlbom, Anne | Tybjærg-Hansen, Anne | Hartmann, Annette M | Spottke, Annika | Corbatón-Anchuelo, Arturo | Rongve, Arvid | Borroni, Barbara | Arosio, Beatrice | Nacmias, Benedetta | Nordestgaard, Børge G | Kunkle, Brian W | Charbonnier, Camille | Abdelnour, Carla | Masullo, Carlo | Martínez Rodríguez, Carmen | Muñoz-Fernandez, Carmen | Dufouil, Carole | Graff, Caroline | Ferreira, Catarina B | Chillotti, Caterina | Reynolds, Chandra A | Fenoglio, Chiara | Van Broeckhoven, Christine | Clark, Christopher | Pisanu, Claudia | Satizabal, Claudia L | Holmes, Clive | Buiza-Rueda, Dolores | Aarsland, Dag | Rujescu, Dan | Alcolea, Daniel | Galimberti, Daniela | Wallon, David | Seripa, Davide | Grünblatt, Edna | Dardiotis, Efthimios | Düzel, Emrah | Scarpini, Elio | Conti, Elisa | Rubino, Elisa | Gelpi, Ellen | Rodriguez-Rodriguez, Eloy | Duron, Emmanuelle | Boerwinkle, Eric | Ferri, Evelyn | Tagliavini, Fabrizio | Küçükali, Fahri | Pasquier, Florence | Sanchez-Garcia, Florentino | Mangialasche, Francesca | Jessen, Frank | Nicolas, Gaël | Selbæk, Geir | Ortega, Gemma | Chêne, Geneviève | Hadjigeorgiou, Georgios | Rossi, Giacomina | Spalletta, Gianfranco | Giaccone, Giorgio | Grande, Giulia | Binetti, Giuliano | Papenberg, Goran | Hampel, Harald | Bailly, Henri | Zetterberg, Henrik | Soininen, Hilkka | Karlsson, Ida K | Alvarez, Ignacio | Appollonio, Ildebrando | Giegling, Ina | Skoog, Ingmar | Saltvedt, Ingvild | Rainero, Innocenzo | Rosas Allende, Irene | Hort, Jakub | Diehl-Schmid, Janine | Van Dongen, Jasper | Vidal, Jean-Sebastien | Lehtisalo, Jenni | Wiltfang, Jens | Thomassen, Jesper Qvist | Kornhuber, Johannes | Haines, Jonathan L | Vogelgsang, Jonathan | Pineda, Juan A | Fortea, Juan | Popp, Julius | Deckert, Jürgen | Buerger, Katharina | Morgan, Kevin | Fließbach, Klaus | Sleegers, Kristel | Molina-Porcel, Laura | Kilander, Lena | Weinhold, Leonie | Farrer, Lindsay A | Wang, Li-San | Kleineidam, Luca | Farotti, Lucia | Parnetti, Lucilla | Tremolizzo, Lucio | Hausner, Lucrezia | Benussi, Luisa | Froelich, Lutz | Ikram, M Arfan | Deniz-Naranjo, M Candida | Tsolaki, Magda | Rosende-Roca, Maitée | Löwenmark, Malin | Hulsman, Marc | Spallazzi, Marco | Pericak-Vance, Margaret A | Esiri, Margaret | Bernal Sánchez-Arjona, María | Dalmasso, Maria Carolina | Martínez-Larrad, María Teresa | Arcaro, Marina | Nöthen, Markus M | Fernández-Fuertes, Marta | Dichgans, Martin | Ingelsson, Martin | Herrmann, Martin J | Scherer, Martin | Vyhnalek, Martin | Kosmidis, Mary H | Yannakoulia, Mary | Schmid, Matthias | Ewers, Michael | Heneka, Michael T | Wagner, Michael | Scamosci, Michela | Kivipelto, Miia | Hiltunen, Mikko | Zulaica, Miren | Alegret, Montserrat | Fornage, Myriam | Roberto, Natalia | van Schoor, Natasja M | Seidu, Nazib M | Banaj, Nerisa | Armstrong, Nicola J | Scarmeas, Nikolaos | Scherbaum, Norbert | Goldhardt, Oliver | Hanon, Oliver | Peters, Oliver | Skrobot, Olivia Anna | Quenez, Olivier | Lerch, Ondrej | Bossù, Paola | Caffarra, Paolo | Dionigi Rossi, Paolo | Sakka, Paraskevi | Hoffmann, Per | Holmans, Peter A | Fischer, Peter | Riederer, Peter | Yang, Qiong | Marshall, Rachel | Kalaria, Rajesh N | Mayeux, Richard | Vandenberghe, Rik | Cecchetti, Roberta | Ghidoni, Roberta | Frikke-Schmidt, Ruth | Sorbi, Sandro | Hägg, Sara | Engelborghs, Sebastiaan | Helisalmi, Seppo | Botne Sando, Sigrid | Kern, Silke | Archetti, Silvana | Boschi, Silvia | Fostinelli, Silvia | Gil, Silvia | Mendoza, Silvia | Mead, Simon | Ciccone, Simona | Djurovic, Srdjan | Heilmann-Heimbach, Stefanie | Riedel-Heller, Steffi | Kuulasmaa, Teemu | Del Ser, Teodoro | Lebouvier, Thibaud | Polak, Thomas | Ngandu, Tiia | Grimmer, Timo | Bessi, Valentina | Escott-Price, Valentina | Giedraitis, Vilmantas | Deramecourt, Vincent | Maier, Wolfgang | Jian, Xueqiu | Pijnenburg, Yolande A L | Kehoe, Patrick Gavin | Garcia-Ribas, Guillermo | Sánchez-Juan, Pascual | Pastor, Pau | Pérez-Tur, Jordi | Piñol-Ripoll, Gerard | Lopez de Munain, Adolfo | García-Alberca, Jose María | Bullido, María J | Álvarez, Victoria | Lleó, Alberto | Real, Luis M | Mir, Pablo | Medina, Miguel | Scheltens, Philip | Holstege, Henne | Marquié, Marta | Sáez, María Eugenia | Carracedo, Ángel | Amouyel, Philippe | Schellenberg, Gerard D | Williams, Julie | Seshadri, Sudha | van Duijn, Cornelia M | Mather, Karen A | Sánchez-Valle, Raquel | Serrano-Ríos, Manuel | Orellana, Adelina | Tárraga, Lluís | Blennow, Kaj | Huisman, Martijn | Andreassen, Ole A | Posthuma, Danielle | Clarimón, Jordi | Boada, Mercè | van der Flier, Wiesje M | Ramirez, Alfredo | Lambert, Jean-Charles | van der Lee, Sven J | Ruiz, Agustín
Date issued
2021-06-07
Citation
Nat Commun. 2021 Jun 7;12(1):3417.
Language
Inglés
Document type
journal article
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.
MESH
Multifactorial Inheritance | Age of Onset | Aged | Aged, 80 and over | Alzheimer Disease | Amyloid beta-Protein Precursor | Apolipoproteins E | Case-Control Studies | Cohort Studies | Datasets as Topic | Female | Follow-Up Studies | Genetic Predisposition to Disease | Genome-Wide Association Study | Heterozygote | Humans | Male | Middle Aged | Polymorphism, Single Nucleotide | Risk Assessment | Risk Factors
Description
Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nat Commun. 2023 Feb 9;14(1):716. doi: 10.1038/s41467-023-36192-x. PMID: 36759603
Online version
DOI
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- Investigación > IIS > ISPA - Instituto de Investigación Sanitaria del Principado de Asturias (Asturias)
- Investigación > IIS > IRYCIS - Instituto Ramón y Cajal de Investigación Sanitaria (Madrid)
- Investigación > IIS > IRB LÉRIDA - Instituto de Investigación Biomédica de Lérida (Cataluña)
- Investigación > IIS > IIS La Fe - Fundación para la Investigación del Hospital Universitario La Fe (C. Valenciana)
- Investigación > IIS > IIS BioGipuzkoa - Asociación Instituto de Investigación Sanitaria BioGipuzkoa (País Vasco)
- Investigación > IIS > IIB Sant Pau - Instituto de Investigación Sant Pau (Cataluña)
- Investigación > IIS > IDIVAL - Instituto de Investigación Marqués de Valdecilla (Cantabria)
- Investigación > IIS > IdISSC - Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (Madrid)
- Investigación > IIS > IdiPAZ - Instituto de Investigación Sanitaria Hospital La Paz (Madrid)
- Investigación > IIS > IDIBAPS - Instituto de Investigaciones Biomédicas August Pi i Sunyer (Cataluña)
- Investigación > IIS > IBIS - Instituto de Biomedicina de Sevilla (Andalucía)
- Investigación > ISCIII > Unidad Funcional de Investigación de Enfermedades Crónicas (UFIEC) > ISCIII - Artículos
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