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

Itziar Rojas, Sonia Moreno-Grau, Niccolo Tesi, Benjamin Grenier-Boley, Victor Andrade, Iris E. Jansen, Nancy L. Pedersen, Najada Stringa, Anna Zettergren, Isabel Hernández, Laura Montrreal, Carmen Antúnez, Anna Antonell, Rick M. Tankard, Joshua C. Bis, Rebecca Sims, Céline Bellenguez, Inés Quintela, Antonio González-Perez, Miguel Calero, Emilio Franco-Macías, Juan Macías, Rafael Blesa, Laura Cervera-Carles, Manuel Menéndez-González, Ana Frank-García, Jose Luís Royo, Fermin Moreno, Raquel Huerto Vilas, Miquel Baquero, Mónica Diez-Fairen, Carmen Lage, Sebastián García-Madrona, Pablo García-González, Emilio Alarcón-Martín, Sergi Valero, Oscar Sotolongo-Grau, Abbe Ullgren, Adam C. Naj, Afina W. Lemstra, Alba Benaque, Alba Pérez-Cordón, Alberto Benussi, Alberto Rábano, Alessandro Padovani, Alessio Squassina, Alexandre de Mendonça, Alfonso Arias Pastor, Almar A. L. Kok, Alun Meggy, Ana Belén Pastor, Ana Espinosa, Anaïs Corma-Gómez, Angel Martín Montes, Ángela Sanabria, Anita L. DeStefano, Anja Schneider, Annakaisa Haapasalo, Anne Kinhult Ståhlbom, Anne Tybjærg-Hansen, Annette M. Hartmann, Annika Spottke, Arturo Corbatón-Anchuelo, Arvid Rongve, Barbara Borroni, Beatrice Arosio, Benedetta Nacmias, Børge G. Nordestgaard, Brian W. Kunkle, Camille Charbonnier, Carla Abdelnour, Carlo Masullo, Carmen Martínez Rodríguez, Carmen Muñoz-Fernandez, Carole Dufouil, Caroline Graff, Catarina B. Ferreira, Caterina Chillotti, Chandra A. Reynolds, Chiara Fenoglio, Christine Van Broeckhoven, Christopher Clark, Claudia Pisanu, Claudia L. Satizabal, Clive Holmes, Dolores Buiza-Rueda, Dag Aarsland, Dan Rujescu, Daniel Alcolea, Daniela Galimberti, David Wallon, Davide Seripa, Edna Grünblatt, Efthimios Dardiotis, Emrah Düzel, Elio Scarpini, Elisa Conti, Elisa Rubino, Ellen Gelpi, Eloy Rodriguez-Rodriguez, Emmanuelle Duron, Eric Boerwinkle, Evelyn Ferri, Fabrizio Tagliavini, Fahri Küçükali, Florence Pasquier, Florentino Sanchez-Garcia, Francesca Mangialasche, Frank Jessen, Gaël Nicolas, Geir Selbæk, Gemma Ortega, Geneviève Chêne, Georgios Hadjigeorgiou, Giacomina Rossi, Gianfranco Spalletta, Giorgio Giaccone, Giulia Grande, Giuliano Binetti, Goran Papenberg, Harald Hampel, Henri Bailly, Henrik Zetterberg, Hilkka Soininen, Ida K. Karlsson, Ignacio Alvarez, Ildebrando Appollonio, Ina Giegling, Ingmar Skoog, Ingvild Saltvedt, Innocenzo Rainero, Irene Rosas Allende, Jakub Hort, Janine Diehl-Schmid, Jasper Van Dongen, Jean-Sebastien Vidal, Jenni Lehtisalo, Jens Wiltfang, Jesper Qvist Thomassen, Johannes Kornhuber, Jonathan L. Haines, Jonathan Vogelgsang, Juan A. Pineda, Juan Fortea, Julius Popp, Jürgen Deckert, Katharina Buerger, Kevin Morgan, Klaus Fließbach, Kristel Sleegers, Laura Molina-Porcel, Lena Kilander, Leonie Weinhold, Lindsay A. Farrer, Li-San Wang, Luca Kleineidam, Lucia Farotti, Lucilla Parnetti, Lucio Tremolizzo, Lucrezia Hausner, Luisa Benussi, Lutz Froelich, M. Arfan Ikram, M. Candida Deniz-Naranjo, Magda Tsolaki, Maitée Rosende-Roca, Malin Löwenmark, Marc Hulsman, Marco Spallazzi, Margaret A. Pericak-Vance, Margaret Esiri, María Bernal Sánchez-Arjona, Maria Carolina Dalmasso, María Teresa Martínez-Larrad, Marina Arcaro, Markus M. Nöthen, Marta Fernández-Fuertes, Martin Dichgans, Martin Ingelsson, Martin J. Herrmann, Martin Scherer, Martin Vyhnalek, Mary H. Kosmidis, Mary Yannakoulia, Matthias Schmid, Michael Ewers, Michael T. Heneka, Michael Wagner, Michela Scamosci, Miia Kivipelto, Mikko Hiltunen, Miren Zulaica, Montserrat Alegret, Myriam Fornage, Natalia Roberto, Natasja M. van Schoor, Nazib M. Seidu, Nerisa Banaj, Nicola J. Armstrong, Nikolaos Scarmeas, Norbert Scherbaum, Oliver Goldhardt, Oliver Hanon, Oliver Peters, Olivia Anna Skrobot, Olivier Quenez, Ondrej Lerch, Paola Bossù, Paolo Caffarra, Paolo Dionigi Rossi, Paraskevi Sakka, Patrizia Mecocci, Per Hoffmann, Peter A. Holmans, Peter Fischer, Peter Riederer, Qiong Yang, Rachel Marshall, Rajesh N. Kalaria, Richard Mayeux, Rik Vandenberghe, Roberta Cecchetti, Roberta Ghidoni, Ruth Frikke-Schmidt, Sandro Sorbi, Sara Hägg, Sebastiaan Engelborghs, Seppo Helisalmi, Sigrid Botne Sando, Silke Kern, Silvana Archetti, Silvia Boschi, Silvia Fostinelli, Silvia Gil, Silvia Mendoza, Simon Mead, Simona Ciccone, Srdjan Djurovic, Stefanie Heilmann-Heimbach, Steffi Riedel-Heller, Teemu Kuulasmaa, Teodoro del Ser, Thibaud Lebouvier, Thomas Polak, Tiia Ngandu, Timo Grimmer, Valentina Bessi, Valentina Escott-Price, Vilmantas Giedraitis, Vincent Deramecourt, Wolfgang Maier, Xueqiu Jian, Yolande A. L. Pijnenburg, Patrick Gavin Kehoe, Guillermo Garcia-Ribas, Pascual Sánchez-Juan, Pau Pastor, Jordi Pérez-Tur, Gerard Piñol-Ripoll, Adolfo Lopez de Munain, Jose María García-Alberca, María J. Bullido, Victoria Álvarez, Alberto Lleó, Luis M. Real, Pablo Mir, Miguel Medina, Philip Scheltens, Henne Holstege, Marta Marquié, María Eugenia Sáez, Ángel Carracedo, Philippe Amouyel, Gerard D. Schellenberg, Julie Williams, Sudha Seshadri, Cornelia M. van Duijn, Karen A. Mather, Raquel Sánchez-Valle, Manuel Serrano-Ríos, Adelina Orellana, Lluís Tárraga, Kaj Blennow, Martijn Huisman, Ole A. Andreassen, Danielle Posthuma, Jordi Clarimón, Mercè Boada, Wiesje M. van der Flier, Alfredo Ramirez, Jean-Charles Lambert, Sven J. van der Lee () and Agustín Ruiz ()
Additional contact information
Itziar Rojas: Universitat Internacional de Catalunya
Sonia Moreno-Grau: Universitat Internacional de Catalunya
Niccolo Tesi: Vrije Universiteit Amsterdam, Amsterdam UMC
Benjamin Grenier-Boley: U1167-Labex DISTALZ-RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases
Victor Andrade: Medical Faculty
Iris E. Jansen: Vrije Universiteit Amsterdam, Amsterdam UMC
Nancy L. Pedersen: Karolinska Institutet
Najada Stringa: Amsterdam Public Health Research Institute
Anna Zettergren: University of Gothenburg
Isabel Hernández: Universitat Internacional de Catalunya
Laura Montrreal: Universitat Internacional de Catalunya
Carmen Antúnez: Hospital Clínico Universitario Virgen de la Arrixaca
Anna Antonell: University of Barcelona
Rick M. Tankard: Murdoch University
Joshua C. Bis: University of Washington
Rebecca Sims: Cardiff University
Céline Bellenguez: U1167-Labex DISTALZ-RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases
Inés Quintela: Universidade de Santiago de Compostela
Antonio González-Perez: CAEBI, Centro Andaluz de Estudios Bioinformáticos
Miguel Calero: National Institute of Health Carlos III
Emilio Franco-Macías: Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla
Juan Macías: Hospital Universitario de Valme
Rafael Blesa: National Institute of Health Carlos III
Laura Cervera-Carles: National Institute of Health Carlos III
Manuel Menéndez-González: Hospital Universitario Central de Asturias
Ana Frank-García: National Institute of Health Carlos III
Jose Luís Royo: University of Málaga
Fermin Moreno: National Institute of Health Carlos III
Raquel Huerto Vilas: Hospital Universitari Santa Maria de Lleida
Miquel Baquero: Hospital Universitari i Politècnic La Fe
Mónica Diez-Fairen: Fundació Docència i Recerca MútuaTerrassa, Terrassa
Carmen Lage: National Institute of Health Carlos III
Sebastián García-Madrona: Hospital Universitario Ramon y Cajal, IRYCIS
Pablo García-González: Universitat Internacional de Catalunya
Emilio Alarcón-Martín: Universitat Internacional de Catalunya
Sergi Valero: Universitat Internacional de Catalunya
Oscar Sotolongo-Grau: Universitat Internacional de Catalunya
Abbe Ullgren: Division of Neurogeriatrics
Adam C. Naj: University of Pennsylvania Perelman School of Medicine
Afina W. Lemstra: Vrije Universiteit Amsterdam, Amsterdam UMC
Alba Benaque: Universitat Internacional de Catalunya
Alba Pérez-Cordón: Universitat Internacional de Catalunya
Alberto Benussi: University of Brescia
Alberto Rábano: National Institute of Health Carlos III
Alessandro Padovani: University of Brescia
Alessio Squassina: University of Cagliari
Alexandre de Mendonça: University of Lisbon
Alfonso Arias Pastor: Hospital Universitari Santa Maria de Lleida
Almar A. L. Kok: Amsterdam Public Health Research Institute
Alun Meggy: Cardiff University
Ana Belén Pastor: CIEN Foundation/Queen Sofia Foundation Alzheimer Center
Ana Espinosa: Universitat Internacional de Catalunya
Anaïs Corma-Gómez: Hospital Universitario de Valme
Angel Martín Montes: National Institute of Health Carlos III
Ángela Sanabria: Universitat Internacional de Catalunya
Anita L. DeStefano: Boston University School of Medicine
Anja Schneider: University Clinic Bonn
Annakaisa Haapasalo: University of Eastern Finland
Anne Kinhult Ståhlbom: Division of Neurogeriatrics
Anne Tybjærg-Hansen: Rigshospitalet
Annette M. Hartmann: University Clinic and Outpatient Clinic for Psychiatry, Psychotherapy and Psychosomatics
Annika Spottke: German Center for Neurodegenerative Diseases (DZNE)
Arturo Corbatón-Anchuelo: Hospital Clínico San Carlos (IdISSC)
Arvid Rongve: Helse Fonna, Department of Research and Innovation
Barbara Borroni: University of Brescia
Beatrice Arosio: University of Milan
Benedetta Nacmias: Drug Research and Child Health University of Florence
Børge G. Nordestgaard: University of Copenhagen
Brian W. Kunkle: University of Miami Miller School of Medicine
Camille Charbonnier: FHU G4 Génomique
Carla Abdelnour: Universitat Internacional de Catalunya
Carlo Masullo: School of Medicine
Carmen Martínez Rodríguez: Instituto de Investigación Sanitaria del Principado de Asturias (ISPA)
Carmen Muñoz-Fernandez: Hospital Universitario de Gran Canaria Dr.Negrín
Carole Dufouil: Univ Bordeaux
Caroline Graff: Division of Neurogeriatrics
Catarina B. Ferreira: Universidade de Lisboa
Caterina Chillotti: University Hospital of Cagliari
Chandra A. Reynolds: University of California—Riverside
Chiara Fenoglio: Dino Ferrari Center
Christine Van Broeckhoven: VIB Center for Molecular Neurology
Christopher Clark: University of Zürich
Claudia Pisanu: University of Cagliari
Claudia L. Satizabal: Boston University School of Medicine
Clive Holmes: University of Southampton
Dolores Buiza-Rueda: National Institute of Health Carlos III
Dag Aarsland: King’s College London
Dan Rujescu: University Clinic and Outpatient Clinic for Psychiatry, Psychotherapy and Psychosomatics
Daniel Alcolea: National Institute of Health Carlos III
Daniela Galimberti: Dino Ferrari Center
David Wallon: Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Neurology and CNR-MAJ, FHU G4 Génomique
Davide Seripa: Complex Structure of Geriatrics, Department of Medical Sciences Fondazione IRCCS Casa Sollievo della Sofferenza
Edna Grünblatt: University of Zurich
Efthimios Dardiotis: University of Thessaly
Emrah Düzel: German Center for Neurodegenerative Diseases (DZNE)
Elio Scarpini: Dino Ferrari Center
Elisa Conti: University of Milano-Bicocca and Milan Center for Neuroscience
Elisa Rubino: AOU Città della Salute e della Scienza di Torino
Ellen Gelpi: Institut d’Investigacions Biomèdiques August Pi i Sunyer
Eloy Rodriguez-Rodriguez: National Institute of Health Carlos III
Emmanuelle Duron: APHP, Hôpital Brousse, equipe INSERM 1178, MOODS
Eric Boerwinkle: University of Texas Health Science Center at Houston
Evelyn Ferri: IRCCS Ospedale Maggiore Policlinico
Fabrizio Tagliavini: Fondazione IRCCS Istituto Neurologico Carlo Besta
Fahri Küçükali: VIB Center for Molecular Neurology
Florence Pasquier: Univ Lille
Florentino Sanchez-Garcia: Hospital Universitario de Gran Canaria Dr. Negrín
Francesca Mangialasche: Karolinska Institutet
Frank Jessen: German Center for Neurodegenerative Diseases (DZNE)
Gaël Nicolas: Hospital de Cabueñes
Geir Selbæk: Vestfold Hospital Trust
Gemma Ortega: Universitat Internacional de Catalunya
Geneviève Chêne: Univ Bordeaux
Georgios Hadjigeorgiou: University of Cyprus
Giacomina Rossi: Fondazione IRCCS Istituto Neurologico Carlo Besta
Gianfranco Spalletta: IRCCS Santa Lucia Foundation
Giorgio Giaccone: Fondazione IRCCS Istituto Neurologico Carlo Besta
Giulia Grande: Karolinska Institutet and Stockholm University
Giuliano Binetti: IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli
Goran Papenberg: Karolinska Institutet and Stockholm University
Harald Hampel: Pitié-Salpêtrière Hospital
Henri Bailly: APHP, Hôpital Broca
Henrik Zetterberg: Sahlgrenska University Hospital
Hilkka Soininen: University of Eastern Finland
Ida K. Karlsson: Karolinska Institutet
Ignacio Alvarez: Fundació Docència i Recerca MútuaTerrassa, Terrassa
Ildebrando Appollonio: University of Milano-Bicocca and Milan Center for Neuroscience
Ina Giegling: University Clinic and Outpatient Clinic for Psychiatry, Psychotherapy and Psychosomatics
Ingmar Skoog: University of Gothenburg
Ingvild Saltvedt: University Hospital of Trondheim
Innocenzo Rainero: University of Torino
Irene Rosas Allende: Instituto de Investigación Sanitaria del Principado de Asturias (ISPA)
Jakub Hort: Charles University
Janine Diehl-Schmid: Technical University of Munich
Jasper Van Dongen: VIB Center for Molecular Neurology
Jean-Sebastien Vidal: APHP, Hôpital Broca
Jenni Lehtisalo: University of Eastern Finland
Jens Wiltfang: University Medical Center Goettingen
Jesper Qvist Thomassen: Rigshospitalet
Johannes Kornhuber: Friedrich-Alexander Universität Erlangen-Nürnberg
Jonathan L. Haines: Case Western Reserve University
Jonathan Vogelgsang: University Medical Center Goettingen
Juan A. Pineda: Hospital Universitario de Valme
Juan Fortea: National Institute of Health Carlos III
Julius Popp: University Hospital of Psychiatry Zürich
Jürgen Deckert: University Hospital
Katharina Buerger: Ludwig-Maximilians-Universität LMU
Kevin Morgan: University of Nottingham
Klaus Fließbach: University Clinic Bonn
Kristel Sleegers: VIB Center for Molecular Neurology
Laura Molina-Porcel: University of Barcelona
Lena Kilander: Department of Public Health and Caring Sciences/Geriatrics
Leonie Weinhold: University Hospital of Bonn
Lindsay A. Farrer: Boston University Schools of Medicine and Public Health
Li-San Wang: University of Pennsylvania Perelman School of Medicine
Luca Kleineidam: Medical Faculty
Lucia Farotti: University of Perugia
Lucilla Parnetti: University of Perugia
Lucio Tremolizzo: University of Milano-Bicocca and Milan Center for Neuroscience
Lucrezia Hausner: University of Heidelberg
Luisa Benussi: IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli
Lutz Froelich: University of Heidelberg
M. Arfan Ikram: Erasmus Medical Center
M. Candida Deniz-Naranjo: Hospital Universitario de Gran Canaria Dr. Negrín
Magda Tsolaki: 1st Department of Neurology Aristotle University of Thessaloniki
Maitée Rosende-Roca: Universitat Internacional de Catalunya
Malin Löwenmark: Department of Public Health and Caring Sciences/Geriatrics
Marc Hulsman: Vrije Universiteit Amsterdam, Amsterdam UMC
Marco Spallazzi: Azienda Ospedaliero-Universitaria
Margaret A. Pericak-Vance: University of Miami Miller School of Medicine
Margaret Esiri: Nuffield Department of Clinical Neurosciences
María Bernal Sánchez-Arjona: Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla
Maria Carolina Dalmasso: Medical Faculty
María Teresa Martínez-Larrad: Hospital Clínico San Carlos (IdISSC)
Marina Arcaro: Fondazione IRCCS Ca’ Granda, Ospedale Policlinico
Markus M. Nöthen: School of Medicine & University Hospital Bonn
Marta Fernández-Fuertes: Hospital Universitario de Valme
Martin Dichgans: Ludwig-Maximilians-Universität LMU
Martin Ingelsson: Department of Public Health and Caring Sciences/Geriatrics
Martin J. Herrmann: University Hospital
Martin Scherer: University Medical Centre Hamburg-Eppendorf
Martin Vyhnalek: Charles University
Mary H. Kosmidis: Aristotle University of Thessaloniki
Mary Yannakoulia: Harokopio University
Matthias Schmid: German Center for Neurodegenerative Diseases (DZNE)
Michael Ewers: Ludwig-Maximilians-Universität LMU
Michael T. Heneka: University Clinic Bonn
Michael Wagner: University Clinic Bonn
Michela Scamosci: University of Perugia
Miia Kivipelto: Karolinska Institutet
Mikko Hiltunen: University of Eastern Finland
Miren Zulaica: National Institute of Health Carlos III
Montserrat Alegret: Universitat Internacional de Catalunya
Myriam Fornage: University of Texas Health Sciences Center at Houston
Natalia Roberto: Universitat Internacional de Catalunya
Natasja M. van Schoor: Amsterdam Public Health Research Institute
Nazib M. Seidu: University of Gothenburg
Nerisa Banaj: IRCCS Santa Lucia Foundation
Nicola J. Armstrong: Murdoch University
Nikolaos Scarmeas: National and Kapodistrian University of Athens, Medical School
Norbert Scherbaum: University of Duisburg-Essen
Oliver Goldhardt: Technical University of Munich
Oliver Hanon: APHP, Hôpital Broca
Oliver Peters: Charité-Universitätsmedizin Berlin
Olivia Anna Skrobot: Southmead Hospital
Olivier Quenez: FHU G4 Génomique
Ondrej Lerch: Charles University
Paola Bossù: IRCCS Santa Lucia Foundation
Paolo Caffarra: University of Parma
Paolo Dionigi Rossi: IRCCS Ospedale Maggiore Policlinico
Paraskevi Sakka: Athens Association of Alzheimer’s disease and Related Disorders
Patrizia Mecocci: University of Perugia
Per Hoffmann: School of Medicine & University Hospital Bonn
Peter A. Holmans: Cardiff University
Peter Fischer: Social Medicine Center East- Donauspital
Peter Riederer: University Hospital of Würzburg
Qiong Yang: Boston University School of Public Health
Rachel Marshall: Cardiff University
Rajesh N. Kalaria: Newcastle University
Richard Mayeux: Columbia University
Rik Vandenberghe: University of Leuven
Roberta Cecchetti: University of Perugia
Roberta Ghidoni: IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli
Ruth Frikke-Schmidt: Rigshospitalet
Sandro Sorbi: Drug Research and Child Health University of Florence
Sara Hägg: Karolinska Institutet
Sebastiaan Engelborghs: Vrije Universiteit Brussel (VUB)
Seppo Helisalmi: University of Eastern Finland
Sigrid Botne Sando: University Hospital of Trondheim
Silke Kern: University of Gothenburg
Silvana Archetti: Brescia Hospital
Silvia Boschi: University of Torino
Silvia Fostinelli: IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli
Silvia Gil: Universitat Internacional de Catalunya
Silvia Mendoza: Andalusian Institute for Neuroscience
Simon Mead: Institute of Prion Diseases
Simona Ciccone: IRCCS Ospedale Maggiore Policlinico
Srdjan Djurovic: Oslo University Hospital
Stefanie Heilmann-Heimbach: School of Medicine & University Hospital Bonn
Steffi Riedel-Heller: University of Leipzig
Teemu Kuulasmaa: University of Eastern Finland
Teodoro del Ser: Department of Neurology/CIEN Foundation/Queen Sofia Foundation Alzheimer Center
Thibaud Lebouvier: Univ Lille
Thomas Polak: University Hospital
Tiia Ngandu: Karolinska Institutet
Timo Grimmer: Technical University of Munich
Valentina Bessi: Drug Research and Child Health University of Florence
Valentina Escott-Price: Cardiff University
Vilmantas Giedraitis: Department of Public Health and Caring Sciences/Geriatrics
Vincent Deramecourt: Univ Lille
Wolfgang Maier: University Clinic Bonn
Xueqiu Jian: Glenn Biggs Institute for Alzheimer’s and Neurodegenerative Diseases
Yolande A. L. Pijnenburg: Vrije Universiteit Amsterdam, Amsterdam UMC
Patrick Gavin Kehoe: Southmead Hospital
Guillermo Garcia-Ribas: Hospital Universitario Ramon y Cajal, IRYCIS
Pascual Sánchez-Juan: National Institute of Health Carlos III
Pau Pastor: Fundació Docència i Recerca MútuaTerrassa, Terrassa
Jordi Pérez-Tur: National Institute of Health Carlos III
Gerard Piñol-Ripoll: Hospital Universitari Santa Maria de Lleida
Adolfo Lopez de Munain: National Institute of Health Carlos III
Jose María García-Alberca: National Institute of Health Carlos III
María J. Bullido: National Institute of Health Carlos III
Victoria Álvarez: Instituto de Investigación Sanitaria del Principado de Asturias (ISPA)
Alberto Lleó: National Institute of Health Carlos III
Luis M. Real: Hospital Universitario de Valme
Pablo Mir: National Institute of Health Carlos III
Miguel Medina: National Institute of Health Carlos III
Philip Scheltens: Vrije Universiteit Amsterdam, Amsterdam UMC
Henne Holstege: Vrije Universiteit Amsterdam, Amsterdam UMC
Marta Marquié: Universitat Internacional de Catalunya
María Eugenia Sáez: CAEBI, Centro Andaluz de Estudios Bioinformáticos
Ángel Carracedo: Universidade de Santiago de Compostela
Philippe Amouyel: U1167-Labex DISTALZ-RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases
Gerard D. Schellenberg: University of Pennsylvania Perelman School of Medicine
Julie Williams: Cardiff University
Sudha Seshadri: Boston University School of Medicine
Cornelia M. van Duijn: Erasmus Medical Center
Karen A. Mather: University of New South Wales
Raquel Sánchez-Valle: University of Barcelona
Manuel Serrano-Ríos: Hospital Clínico San Carlos (IdISSC)
Adelina Orellana: Universitat Internacional de Catalunya
Lluís Tárraga: Universitat Internacional de Catalunya
Kaj Blennow: Sahlgrenska University Hospital
Martijn Huisman: Amsterdam Public Health Research Institute
Ole A. Andreassen: University of Oslo
Danielle Posthuma: VU University
Jordi Clarimón: National Institute of Health Carlos III
Mercè Boada: Universitat Internacional de Catalunya
Wiesje M. van der Flier: Vrije Universiteit Amsterdam, Amsterdam UMC
Alfredo Ramirez: Medical Faculty
Jean-Charles Lambert: U1167-Labex DISTALZ-RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases
Sven J. van der Lee: Vrije Universiteit Amsterdam, Amsterdam UMC
Agustín Ruiz: Universitat Internacional de Catalunya

Nature Communications, 2021, vol. 12, issue 1, 1-16

Abstract: 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.

Date: 2021
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DOI: 10.1038/s41467-021-22491-8

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