Itziar de Rojas
Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
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; 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; Mart...
Authors
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
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
A. David Smith
Aldo Saenz
Alessandra Bizzarro
Alessandra Lauria
Alessandro Vacca
Alina Solomon
Anna Anastasiou
Anna Richardson
Anne Boland
Anne Koivisto
Antonio Daniele
Antonio Greco
Arnaoutoglou Marianthi
Bernadette McGuinness
Bertrand Fin
Camilla Ferrari
Carlo Custodero
Carlo Ferrarese
Carlos Ingino
Carlos Mangone
Carlos Reyes Toso
Carmen Martínez
Carolina Cuesta
Carolina Muchnik
Catharine Joachim
Cecilia Ortiz
Céline Besse
Charlotte Johansson
Chiara Paola Zoia
Christoph Laske
Costas Anastasiou
Dana Lis Palacio
Daniel G. Politis
Daniel Janowitz
David Craig
David M. Mann
David Neary
Deckert Jürgen
Delphine Daian
Diyana Belezhanska
Eduardo Kohler
Eduardo M. Castaño
Effrosyni Koutsouraki
Elena Chipi
Ellen De Roeck
Emanuele Costantini
Emma R. L. C. Vardy
Fabrizio Piras
Fausto Roveta
Federica Piras
Federico Ariel Prestia
Francesca Assogna
Francesca Salani
Gessica Sala
Giordano Lacidogna
Gisela Novack
Gordon Wilcock
Håkan Thonberg
Heike Kölsch
Heike Weber
Henning Boecker
Ignacio Etchepareborda
Irene Piaceri
Jaakko Tuomilehto
Jaana Lindström
Jan Laczo
Janet Johnston
Jean-François Deleuze
Jenny Harris
Jonathan M. Schott
Josef Priller
Juan Ignacio Bacha
Julie Snowden
Julieta Lisso
Kalina Yonkova Mihova
Latchezar Traykov
Laura Morelli
Luis Ignacio Brusco
Malik Rainer
Mari Takalo
Maria Bjerke
Maria Del Zompo
Maria Serpente
Mariana Sanchez Abalos
Mario Rios
Markku Peltonen
Martin J. Herrman
Mary H. Kosmidis
Matias Kohler
Matias Rojo
Matthew Jones
Michela Orsini
Nancy Medel
Natividad Olivar
Nick C. Fox
Nicola Salvadori
Nigel M. Hooper
Pablo Galeano
Patricia Solis
Patrizia Bastiani
Patrizia Mecocci
Peter Passmore
Reinhard Heun
Riitta Antikainen
Robert Olaso
Robert Perneczky
Sandra Germani
Sara López-García
Seth Love
Shima Mehrabian
Silvia Bagnoli
Silvia Kochen
Simona Andreoni
Stefan Teipel
Stephen Todd
Stuart Pickering-Brown
Teemu Natunen
Thomas Tegos
Tiina Laatikainen
Timo Strandberg
Tuomo M. Polvikoski
Vaclav Matoska
Valentina Ciullo
Valeria Cores
Vincenzo Solfrizzi
Viviana Lisetti
Zulma Sevillano
C. Abdelnour
N. Aguilera
E. Alarcon
M. Alegret
A. Benaque
M. Boada
M. Buendia
P. Cañabate
A. Carracedo
A. Corbatón-Anchuelo
I. de Rojas
S. Diego
A. Espinosa
A. Gailhajenet
P. García-González
S. Gil
M. Guitart
A. González-Pérez
I. Hernández
M. Ibarria
A. Lafuente
J. Macias
O. Maroñas
E. Martín
M. T. Martínez
M. Marquié
A. Mauleón
L. Montrreal
S. Moreno-Grau
M. Moreno
A. Orellana
G. Ortega
A. Pancho
E. Pelejá
A. Pérez-Cordon
J. A. Pineda
S. Preckler
I. Quintela
L. M. Real
M. Rosende-Roca
A. Ruiz
M. E. Sáez
A. Sanabria
M. Serrano-Rios
O. Sotolongo-Grau
L. Tárraga
S. Valero
L. Vargas
A. D. Adarmes-Gómez
E. Alarcón-Martín
M. D. Alonso
I. Álvarez
V. Álvarez
G. Amer-Ferrer
M. Antequera
C. Antúnez
M. Baquero
M. Bernal
R. Blesa
M. Boada
D. Buiza-Rueda
M. J. Bullido
J. A. Burguera
M. Calero
F. Carrillo
M. Carrión-Claro
M. J. Casajeros
J. Clarimón
J. M. Cruz-Gamero
M. M. de Pancorbo
I. de Rojas
T. del Ser
M. Diez-Fairen
R. Escuela
L. Garrote-Espina
J. Fortea
E. Franco-Macías
A. Frank-García
J. M. García-Alberca
S. Garcia Madrona
G. Garcia-Ribas
P. Gómez-Garre
I. Hernández
S. Hevilla
S. Jesús
M. A. Labrador Espinosa
C. Lage
A. Legaz
A. Lleó
A. Lopez de Munain
S. López-García
D. Macias-García
S. Manzanares
M. Marín
J. Marín-Muñoz
T. Marín
M. Marquié
A. Martín Montes
B. Martínez
C. Martínez
V. Martínez
P. Martínez-Lage Álvarez
M. Medina
M. Mendioroz Iriarte
M. Menéndez-González
P. Mir
J. L. Molinuevo
P. Pastor
J. Pérez Tur
T. Periñán-Tocino
R. Pineda-Sanchez
G. Piñol-Ripoll
A. Rábano
D. Real de Asúa
S. Rodrigo
E. Rodríguez-Rodríguez
J. L. Royo
A. Ruiz
R. Sanchez del Valle Díaz
P. Sánchez-Juan
I. Sastre
S. Valero
M. P. Vicente
R. Vigo-Ortega
L. Vivancos
C. Macleod
C. McCracken
Carol Brayne
Catherine Bresner
Detelina Grozeva
Eftychia Bellou
Ewen W. Sommerville
F. Matthews
Ganna Leonenko
Georgina Menzies
Gill Windle
Janet Harwood
Judith Phillips
K. Bennett
Lauren Luckuck
Linda Clare
Robert Woods
Salha Saad
Vanessa Burholt
Iris E. Jansen
Arvid Rongve
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
Agustín Ruiz
EADB contributors
The GR@ACE study group
DEGESCO consortium
IGAP (ADGC, CHARGE, EADI, GERAD)
PGC-ALZ consortia
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.
Citation
de Rojas, I., Moreno-Grau, S., Tesi, N., Grenier-Boley, B., Andrade, V., Jansen, I. E., …PGC-ALZ consortia. (2021). Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores. Nature Communications, 12(1), Article 3417. https://doi.org/10.1038/s41467-021-22491-8
Journal Article Type | Article |
---|---|
Acceptance Date | Mar 17, 2021 |
Online Publication Date | Jun 7, 2021 |
Publication Date | Jun 7, 2021 |
Deposit Date | Jun 14, 2021 |
Publicly Available Date | Jun 14, 2021 |
Journal | Nature Communications |
Electronic ISSN | 2041-1723 |
Publisher | Nature Publishing Group |
Peer Reviewed | Peer Reviewed |
Volume | 12 |
Issue | 1 |
Article Number | 3417 |
DOI | https://doi.org/10.1038/s41467-021-22491-8 |
Keywords | General Biochemistry, Genetics and Molecular Biology; General Physics and Astronomy; General Chemistry |
Public URL | https://nottingham-repository.worktribe.com/output/5670496 |
Publisher URL | https://www.nature.com/articles/s41467-021-22491-8 |
Files
Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
(4.5 Mb)
PDF
Publisher Licence URL
https://creativecommons.org/licenses/by/4.0/
Downloadable Citations
About Repository@Nottingham
Administrator e-mail: discovery-access-systems@nottingham.ac.uk
This application uses the following open-source libraries:
SheetJS Community Edition
Apache License Version 2.0 (http://www.apache.org/licenses/)
PDF.js
Apache License Version 2.0 (http://www.apache.org/licenses/)
Font Awesome
SIL OFL 1.1 (http://scripts.sil.org/OFL)
MIT License (http://opensource.org/licenses/mit-license.html)
CC BY 3.0 ( http://creativecommons.org/licenses/by/3.0/)
Powered by Worktribe © 2024
Advanced Search