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Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
Itziar de 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,
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),
Vanessa Burholt
,
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),
Vanessa Burholt
Nature Communications, Volume: 12, Issue: 1
Swansea University Author:
Vanessa Burholt
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DOI (Published version): 10.1038/s41467-021-22491-8
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 avai...
| Published in: | Nature Communications |
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| ISSN: | 2041-1723 |
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Springer Science and Business Media LLC
2021
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| URI: | https://cronfa.swan.ac.uk/Record/cronfa60591 |
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<?xml version="1.0"?><rfc1807><datestamp>2022-10-27T15:25:38.1468073</datestamp><bib-version>v2</bib-version><id>60591</id><entry>2022-07-22</entry><title>Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores</title><swanseaauthors><author><sid>cf7fe9863906cd54df5b0a99904d535e</sid><ORCID>0000-0002-6789-127X</ORCID><firstname>Vanessa</firstname><surname>Burholt</surname><name>Vanessa Burholt</name><active>true</active><ethesisStudent>false</ethesisStudent></author></swanseaauthors><date>2022-07-22</date><deptcode>PHAC</deptcode><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.</abstract><type>Journal Article</type><journal>Nature Communications</journal><volume>12</volume><journalNumber>1</journalNumber><paginationStart/><paginationEnd/><publisher>Springer Science and Business Media LLC</publisher><placeOfPublication/><isbnPrint/><isbnElectronic/><issnPrint/><issnElectronic>2041-1723</issnElectronic><keywords/><publishedDay>7</publishedDay><publishedMonth>6</publishedMonth><publishedYear>2021</publishedYear><publishedDate>2021-06-07</publishedDate><doi>10.1038/s41467-021-22491-8</doi><url/><notes/><college>COLLEGE NANME</college><department>Public Health</department><CollegeCode>COLLEGE CODE</CollegeCode><DepartmentCode>PHAC</DepartmentCode><institution>Swansea University</institution><apcterm>Another institution paid the OA fee</apcterm><funders>The present work has been performed as part of the doctoral program of I. de Rojas at the Universitat de Barcelona (Barcelona, Spain) supported by national grant from the Instituto de Salud Carlos III FI20/00215. The Genome Research @ Fundació ACE project (GR@ACE) is supported by Grifols SA, Fundación bancaria “La Caixa”, Fundació ACE, and CIBERNED. A.R. and M.B. receive support from the European Union/EFPIA Innovative Medicines Initiative Joint undertaking ADAPTED and MOPEAD projects (grant numbers 115975 and 115985, respectively). M.B. and A.R. are also supported by national grants PI13/02434, PI16/01861, PI17/01474, PI19/01240 and PI19/01301. This work was supported by Stichting Alzheimer Nederland (WE09.2014-03), Stichting Diorapthe, horstingstuit foundation, Memorabel (ZonMW project number 733050814, 733050512) and Stichting VUmc Fonds. This work was supported by a grant (European Alzheimer DNA BioBank, EADB) from the EU Joint Program—Neurodegenerative Disease Research (JPND) and also funded by Inserm, Institut Pasteur de Lille, the Lille Métropole Communauté Urbaine, the French government’s LABEX DISTALZ program (development of innovative strategies for a transdisciplinary approach to AD). EADI was supported by the LABEX (laboratory of excellence program investment for the future) DISTALZ grant, Inserm, Institut Pasteur de Lille, Université de Lille 2 and the Lille University Hospital. GERAD was supported by the Medical Research Council (Grant n° 503480), Alzheimer’s Research UK (Grant n° 503176), the Wellcome Trust (Grant n° 082604/2/07/Z) and German Federal Ministry of Education and Research (BMBF): Competence Network Dementia (CND) grant n° 01GI0102, 01GI0711, 01GI0420. CHARGE was partly supported by the NIA/NHLBI grants AG049505, AG058589, HL105756 and AGES contract N01–AG–12100, the Icelandic Heart Association, and the Erasmus Medical Center and Erasmus University. ADGC was supported by the NIH/NIA grants: U01 AG032984, U24 AG021886, U01 AG016976, and the Alzheimer’s Association grant ADGC–10–196728.</funders><projectreference/><lastEdited>2022-10-27T15:25:38.1468073</lastEdited><Created>2022-07-22T00:23:41.3543193</Created><path><level id="1">Faculty of Medicine, Health and Life Sciences</level><level id="2">The Centre for Innovative Ageing</level></path><authors><author><firstname>Itziar de</firstname><surname>Rojas</surname><orcid>0000-0002-2148-381x</orcid><order>1</order></author><author><firstname>Sonia</firstname><surname>Moreno-Grau</surname><order>2</order></author><author><firstname>Niccolo</firstname><surname>Tesi</surname><order>3</order></author><author><firstname>Benjamin</firstname><surname>Grenier-Boley</surname><order>4</order></author><author><firstname>Victor</firstname><surname>Andrade</surname><order>5</order></author><author><firstname>Iris E.</firstname><surname>Jansen</surname><order>6</order></author><author><firstname>Nancy L.</firstname><surname>Pedersen</surname><order>7</order></author><author><firstname>Najada</firstname><surname>Stringa</surname><orcid>0000-0001-6350-452x</orcid><order>8</order></author><author><firstname>Anna</firstname><surname>Zettergren</surname><orcid>0000-0002-7182-8417</orcid><order>9</order></author><author><firstname>Isabel</firstname><surname>Hernández</surname><order>10</order></author><author><firstname>Laura</firstname><surname>Montrreal</surname><order>11</order></author><author><firstname>Carmen</firstname><surname>Antúnez</surname><order>12</order></author><author><firstname>Anna</firstname><surname>Antonell</surname><order>13</order></author><author><firstname>Rick M.</firstname><surname>Tankard</surname><orcid>0000-0002-8847-9401</orcid><order>14</order></author><author><firstname>Joshua 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Carolina</firstname><surname>Dalmasso</surname><order>173</order></author><author><firstname>María Teresa</firstname><surname>Martínez-Larrad</surname><order>174</order></author><author><firstname>Marina</firstname><surname>Arcaro</surname><order>175</order></author><author><firstname>Markus M.</firstname><surname>Nöthen</surname><order>176</order></author><author><firstname>Marta</firstname><surname>Fernández-Fuertes</surname><order>177</order></author><author><firstname>Martin</firstname><surname>Dichgans</surname><orcid>0000-0002-0654-387x</orcid><order>178</order></author><author><firstname>Martin</firstname><surname>Ingelsson</surname><order>179</order></author><author><firstname>Martin J.</firstname><surname>Herrmann</surname><order>180</order></author><author><firstname>Martin</firstname><surname>Scherer</surname><order>181</order></author><author><firstname>Martin</firstname><surname>Vyhnalek</surname><order>182</order></author><author><firstname>Mary H.</firstname><surname>Kosmidis</surname><order>183</order></author><author><firstname>Mary</firstname><surname>Yannakoulia</surname><order>184</order></author><author><firstname>Matthias</firstname><surname>Schmid</surname><order>185</order></author><author><firstname>Michael</firstname><surname>Ewers</surname><orcid>0000-0001-5231-1714</orcid><order>186</order></author><author><firstname>Michael 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M.</firstname><surname>Seidu</surname><order>197</order></author><author><firstname>Nerisa</firstname><surname>Banaj</surname><order>198</order></author><author><firstname>Nicola J.</firstname><surname>Armstrong</surname><order>199</order></author><author><firstname>Nikolaos</firstname><surname>Scarmeas</surname><order>200</order></author><author><firstname>Norbert</firstname><surname>Scherbaum</surname><order>201</order></author><author><firstname>Oliver</firstname><surname>Goldhardt</surname><order>202</order></author><author><firstname>Oliver</firstname><surname>Hanon</surname><order>203</order></author><author><firstname>Oliver</firstname><surname>Peters</surname><order>204</order></author><author><firstname>Olivia Anna</firstname><surname>Skrobot</surname><order>205</order></author><author><firstname>Olivier</firstname><surname>Quenez</surname><orcid>0000-0002-8273-8505</orcid><order>206</order></author><author><firstname>Ondrej</firstname><surname>Lerch</surname><order>207</order></author><author><firstname>Paola</firstname><surname>Bossù</surname><orcid>0000-0002-1432-0078</orcid><order>208</order></author><author><firstname>Paolo</firstname><surname>Caffarra</surname><order>209</order></author><author><firstname>Paolo Dionigi</firstname><surname>Rossi</surname><order>210</order></author><author><firstname>Paraskevi</firstname><surname>Sakka</surname><order>211</order></author><author><firstname>Per</firstname><surname>Hoffmann</surname><order>212</order></author><author><firstname>Peter A.</firstname><surname>Holmans</surname><orcid>0000-0003-0870-9412</orcid><order>213</order></author><author><firstname>Peter</firstname><surname>Fischer</surname><order>214</order></author><author><firstname>Peter</firstname><surname>Riederer</surname><order>215</order></author><author><firstname>Qiong</firstname><surname>Yang</surname><orcid>0000-0002-2442-2094</orcid><order>216</order></author><author><firstname>Rachel</firstname><surname>Marshall</surname><order>217</order></author><author><firstname>Rajesh N.</firstname><surname>Kalaria</surname><order>218</order></author><author><firstname>Richard</firstname><surname>Mayeux</surname><order>219</order></author><author><firstname>Rik</firstname><surname>Vandenberghe</surname><order>220</order></author><author><firstname>Roberta</firstname><surname>Cecchetti</surname><order>221</order></author><author><firstname>Roberta</firstname><surname>Ghidoni</surname><order>222</order></author><author><firstname>Ruth</firstname><surname>Frikke-Schmidt</surname><order>223</order></author><author><firstname>Sandro</firstname><surname>Sorbi</surname><order>224</order></author><author><firstname>Sara</firstname><surname>Hägg</surname><orcid>0000-0002-2452-1500</orcid><order>225</order></author><author><firstname>Sebastiaan</firstname><surname>Engelborghs</surname><order>226</order></author><author><firstname>Seppo</firstname><surname>Helisalmi</surname><order>227</order></author><author><firstname>Sigrid Botne</firstname><surname>Sando</surname><order>228</order></author><author><firstname>Silke</firstname><surname>Kern</surname><order>229</order></author><author><firstname>Silvana</firstname><surname>Archetti</surname><order>230</order></author><author><firstname>Silvia</firstname><surname>Boschi</surname><order>231</order></author><author><firstname>Silvia</firstname><surname>Fostinelli</surname><order>232</order></author><author><firstname>Silvia</firstname><surname>Gil</surname><order>233</order></author><author><firstname>Silvia</firstname><surname>Mendoza</surname><order>234</order></author><author><firstname>Simon</firstname><surname>Mead</surname><order>235</order></author><author><firstname>Simona</firstname><surname>Ciccone</surname><order>236</order></author><author><firstname>Srdjan</firstname><surname>Djurovic</surname><orcid>0000-0002-8140-8061</orcid><order>237</order></author><author><firstname>Stefanie</firstname><surname>Heilmann-Heimbach</surname><order>238</order></author><author><firstname>Steffi</firstname><surname>Riedel-Heller</surname><order>239</order></author><author><firstname>Teemu</firstname><surname>Kuulasmaa</surname><order>240</order></author><author><firstname>Teodoro del</firstname><surname>Ser</surname><order>241</order></author><author><firstname>Thibaud</firstname><surname>Lebouvier</surname><order>242</order></author><author><firstname>Thomas</firstname><surname>Polak</surname><order>243</order></author><author><firstname>Tiia</firstname><surname>Ngandu</surname><order>244</order></author><author><firstname>Timo</firstname><surname>Grimmer</surname><order>245</order></author><author><firstname>Valentina</firstname><surname>Bessi</surname><orcid>0000-0002-6176-3584</orcid><order>246</order></author><author><firstname>Valentina</firstname><surname>Escott-Price</surname><orcid>0000-0003-1784-5483</orcid><order>247</order></author><author><firstname>Vilmantas</firstname><surname>Giedraitis</surname><orcid>0000-0003-3423-2021</orcid><order>248</order></author><author><firstname>Vincent</firstname><surname>Deramecourt</surname><order>249</order></author><author><firstname>Wolfgang</firstname><surname>Maier</surname><order>250</order></author><author><firstname>Xueqiu</firstname><surname>Jian</surname><orcid>0000-0002-0313-6494</orcid><order>251</order></author><author><firstname>Yolande A. 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David</firstname><surname>Smith</surname><order>253</order></author><author><firstname>Aldo</firstname><surname>Saenz</surname><order>254</order></author><author><firstname>Alessandra</firstname><surname>Bizzarro</surname><order>255</order></author><author><firstname>Alessandra</firstname><surname>Lauria</surname><order>256</order></author><author><firstname>Alessandro</firstname><surname>Vacca</surname><order>257</order></author><author><firstname>Alina</firstname><surname>Solomon</surname><order>258</order></author><author><firstname>Anna</firstname><surname>Anastasiou</surname><order>259</order></author><author><firstname>Anna</firstname><surname>Richardson</surname><order>260</order></author><author><firstname>Anne</firstname><surname>Boland</surname><order>261</order></author><author><firstname>Anne</firstname><surname>Koivisto</surname><order>262</order></author><author><firstname>Antonio</firstname><surname>Daniele</surname><order>263</order></author><author><firstname>Antonio</firstname><surname>Greco</surname><order>264</order></author><author><firstname>Arnaoutoglou</firstname><surname>Marianthi</surname><order>265</order></author><author><firstname>Bernadette</firstname><surname>McGuinness</surname><order>266</order></author><author><firstname>Bertrand</firstname><surname>Fin</surname><order>267</order></author><author><firstname>Camilla</firstname><surname>Ferrari</surname><order>268</order></author><author><firstname>Carlo</firstname><surname>Custodero</surname><order>269</order></author><author><firstname>Carlo</firstname><surname>Ferrarese</surname><order>270</order></author><author><firstname>Carlos</firstname><surname>Ingino</surname><order>271</order></author><author><firstname>Carlos</firstname><surname>Mangone</surname><order>272</order></author><author><firstname>Carlos Reyes</firstname><surname>Toso</surname><order>273</order></author><author><firstname>Carmen</firstname><surname>Martínez</surname><order>274</order></author><author><firstname>Carolina</firstname><surname>Cuesta</surname><order>275</order></author><author><firstname>Carolina</firstname><surname>Muchnik</surname><order>276</order></author><author><firstname>Catharine</firstname><surname>Joachim</surname><order>277</order></author><author><firstname>Cecilia</firstname><surname>Ortiz</surname><order>278</order></author><author><firstname>Céline</firstname><surname>Besse</surname><order>279</order></author><author><firstname>Charlotte</firstname><surname>Johansson</surname><order>280</order></author><author><firstname>Chiara Paola</firstname><surname>Zoia</surname><order>281</order></author><author><firstname>Christoph</firstname><surname>Laske</surname><order>282</order></author><author><firstname>Costas</firstname><surname>Anastasiou</surname><order>283</order></author><author><firstname>Dana Lis</firstname><surname>Palacio</surname><order>284</order></author><author><firstname>Daniel G.</firstname><surname>Politis</surname><order>285</order></author><author><firstname>Daniel</firstname><surname>Janowitz</surname><order>286</order></author><author><firstname>David</firstname><surname>Craig</surname><order>287</order></author><author><firstname>David M.</firstname><surname>Mann</surname><order>288</order></author><author><firstname>David</firstname><surname>Neary</surname><order>289</order></author><author><firstname>Deckert</firstname><surname>Jürgen</surname><order>290</order></author><author><firstname>Delphine</firstname><surname>Daian</surname><order>291</order></author><author><firstname>Diyana</firstname><surname>Belezhanska</surname><order>292</order></author><author><firstname>Eduardo</firstname><surname>Kohler</surname><order>293</order></author><author><firstname>Eduardo M.</firstname><surname>Castaño</surname><order>294</order></author><author><firstname>Effrosyni</firstname><surname>Koutsouraki</surname><order>295</order></author><author><firstname>Elena</firstname><surname>Chipi</surname><order>296</order></author><author><firstname>Ellen De</firstname><surname>Roeck</surname><order>297</order></author><author><firstname>Emanuele</firstname><surname>Costantini</surname><order>298</order></author><author><firstname>Emma R. L. 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Ariel</firstname><surname>Prestia</surname><order>303</order></author><author><firstname>Francesca</firstname><surname>Assogna</surname><order>304</order></author><author><firstname>Francesca</firstname><surname>Salani</surname><order>305</order></author><author><firstname>Gessica</firstname><surname>Sala</surname><order>306</order></author><author><firstname>Giordano</firstname><surname>Lacidogna</surname><order>307</order></author><author><firstname>Gisela</firstname><surname>Novack</surname><order>308</order></author><author><firstname>Gordon</firstname><surname>Wilcock</surname><order>309</order></author><author><firstname>Håkan</firstname><surname>Thonberg</surname><order>310</order></author><author><firstname>Heike</firstname><surname>Kölsch</surname><order>311</order></author><author><firstname>Heike</firstname><surname>Weber</surname><order>312</order></author><author><firstname>Henning</firstname><surname>Boecker</surname><order>313</order></author><author><firstname>Ignacio</firstname><surname>Etchepareborda</surname><order>314</order></author><author><firstname>Irene</firstname><surname>Piaceri</surname><order>315</order></author><author><firstname>Jaakko</firstname><surname>Tuomilehto</surname><order>316</order></author><author><firstname>Jaana</firstname><surname>Lindström</surname><order>317</order></author><author><firstname>Jan</firstname><surname>Laczo</surname><order>318</order></author><author><firstname>Janet</firstname><surname>Johnston</surname><order>319</order></author><author><firstname>Jean-François</firstname><surname>Deleuze</surname><order>320</order></author><author><firstname>Jenny</firstname><surname>Harris</surname><order>321</order></author><author><firstname>Jonathan 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Ignacio</firstname><surname>Brusco</surname><order>330</order></author><author><firstname>Malik</firstname><surname>Rainer</surname><order>331</order></author><author><firstname>Mari</firstname><surname>Takalo</surname><order>332</order></author><author><firstname>Maria</firstname><surname>Bjerke</surname><order>333</order></author><author><firstname>Maria Del</firstname><surname>Zompo</surname><order>334</order></author><author><firstname>Maria</firstname><surname>Serpente</surname><order>335</order></author><author><firstname>Mariana Sanchez</firstname><surname>Abalos</surname><orcid>0000-0001-9299-2534</orcid><order>336</order></author><author><firstname>Mario</firstname><surname>Rios</surname><order>337</order></author><author><firstname>Markku</firstname><surname>Peltonen</surname><order>338</order></author><author><firstname>Martin J.</firstname><surname>Herrman</surname><order>339</order></author><author><firstname>Mary 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A.</firstname><surname>Mather</surname><orcid>0000-0003-4143-8941</orcid><order>550</order></author><author><firstname>Raquel</firstname><surname>Sánchez-Valle</surname><order>551</order></author><author><firstname>Manuel</firstname><surname>Serrano-Ríos</surname><order>552</order></author><author><firstname>Adelina</firstname><surname>Orellana</surname><order>553</order></author><author><firstname>Lluís</firstname><surname>Tárraga</surname><order>554</order></author><author><firstname>Kaj</firstname><surname>Blennow</surname><orcid>0000-0002-1890-4193</orcid><order>555</order></author><author><firstname>Martijn</firstname><surname>Huisman</surname><order>556</order></author><author><firstname>Ole 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2022-10-27T15:25:38.1468073 v2 60591 2022-07-22 Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores cf7fe9863906cd54df5b0a99904d535e 0000-0002-6789-127X Vanessa Burholt Vanessa Burholt true false 2022-07-22 PHAC 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. Journal Article Nature Communications 12 1 Springer Science and Business Media LLC 2041-1723 7 6 2021 2021-06-07 10.1038/s41467-021-22491-8 COLLEGE NANME Public Health COLLEGE CODE PHAC Swansea University Another institution paid the OA fee The present work has been performed as part of the doctoral program of I. de Rojas at the Universitat de Barcelona (Barcelona, Spain) supported by national grant from the Instituto de Salud Carlos III FI20/00215. The Genome Research @ Fundació ACE project (GR@ACE) is supported by Grifols SA, Fundación bancaria “La Caixa”, Fundació ACE, and CIBERNED. A.R. and M.B. receive support from the European Union/EFPIA Innovative Medicines Initiative Joint undertaking ADAPTED and MOPEAD projects (grant numbers 115975 and 115985, respectively). M.B. and A.R. are also supported by national grants PI13/02434, PI16/01861, PI17/01474, PI19/01240 and PI19/01301. This work was supported by Stichting Alzheimer Nederland (WE09.2014-03), Stichting Diorapthe, horstingstuit foundation, Memorabel (ZonMW project number 733050814, 733050512) and Stichting VUmc Fonds. This work was supported by a grant (European Alzheimer DNA BioBank, EADB) from the EU Joint Program—Neurodegenerative Disease Research (JPND) and also funded by Inserm, Institut Pasteur de Lille, the Lille Métropole Communauté Urbaine, the French government’s LABEX DISTALZ program (development of innovative strategies for a transdisciplinary approach to AD). EADI was supported by the LABEX (laboratory of excellence program investment for the future) DISTALZ grant, Inserm, Institut Pasteur de Lille, Université de Lille 2 and the Lille University Hospital. GERAD was supported by the Medical Research Council (Grant n° 503480), Alzheimer’s Research UK (Grant n° 503176), the Wellcome Trust (Grant n° 082604/2/07/Z) and German Federal Ministry of Education and Research (BMBF): Competence Network Dementia (CND) grant n° 01GI0102, 01GI0711, 01GI0420. CHARGE was partly supported by the NIA/NHLBI grants AG049505, AG058589, HL105756 and AGES contract N01–AG–12100, the Icelandic Heart Association, and the Erasmus Medical Center and Erasmus University. ADGC was supported by the NIH/NIA grants: U01 AG032984, U24 AG021886, U01 AG016976, and the Alzheimer’s Association grant ADGC–10–196728. 2022-10-27T15:25:38.1468073 2022-07-22T00:23:41.3543193 Faculty of Medicine, Health and Life Sciences The Centre for Innovative Ageing Itziar de Rojas 0000-0002-2148-381x 1 Sonia Moreno-Grau 2 Niccolo Tesi 3 Benjamin Grenier-Boley 4 Victor Andrade 5 Iris E. Jansen 6 Nancy L. Pedersen 7 Najada Stringa 0000-0001-6350-452x 8 Anna Zettergren 0000-0002-7182-8417 9 Isabel Hernández 10 Laura Montrreal 11 Carmen Antúnez 12 Anna Antonell 13 Rick M. Tankard 0000-0002-8847-9401 14 Joshua C. Bis 15 Rebecca Sims 0000-0002-3885-1199 16 Céline Bellenguez 0000-0002-1240-7874 17 Inés Quintela 18 Antonio González-Perez 19 Miguel Calero 0000-0001-5366-3324 20 Emilio Franco-Macías 21 Juan Macías 22 Rafael Blesa 23 Laura Cervera-Carles 0000-0003-2286-200x 24 Manuel Menéndez-González 0000-0002-5218-0774 25 Ana Frank-García 26 Jose Luís Royo 27 Fermin Moreno 28 Raquel Huerto Vilas 29 Miquel Baquero 30 Mónica Diez-Fairen 0000-0003-1882-0309 31 Carmen Lage 0000-0003-1703-121x 32 Sebastián García-Madrona 33 Pablo García-González 0000-0003-0125-5403 34 Emilio Alarcón-Martín 35 Sergi Valero 36 Oscar Sotolongo-Grau 37 Abbe Ullgren 38 Adam C. Naj 39 Afina W. Lemstra 40 Alba Benaque 41 Alba Pérez-Cordón 0000-0002-6028-0791 42 Alberto Benussi 0000-0002-8703-6940 43 Alberto Rábano 44 Alessandro Padovani 45 Alessio Squassina 0000-0001-7415-7607 46 Alexandre de Mendonça 47 Alfonso Arias Pastor 48 Almar A. L. Kok 49 Alun Meggy 50 Ana Belén Pastor 0000-0001-9637-4688 51 Ana Espinosa 52 Anaïs Corma-Gómez 53 Angel Martín Montes 0000-0002-1694-786x 54 Ángela Sanabria 55 Anita L. DeStefano 56 Anja Schneider 57 Annakaisa Haapasalo 0000-0003-0959-2957 58 Anne Kinhult Ståhlbom 59 Anne Tybjærg-Hansen 60 Annette M. Hartmann 61 Annika Spottke 62 Arturo Corbatón-Anchuelo 63 Arvid Rongve 0000-0002-0476-4134 64 Barbara Borroni 65 Beatrice Arosio 66 Benedetta Nacmias 0000-0001-9338-9040 67 Børge G. Nordestgaard 0000-0002-1954-7220 68 Brian W. Kunkle 69 Camille Charbonnier 70 Carla Abdelnour 71 Carlo Masullo 72 Carmen Martínez Rodríguez 73 Carmen Muñoz-Fernandez 74 Carole Dufouil 75 Caroline Graff 76 Catarina B. Ferreira 77 Caterina Chillotti 78 Chandra A. Reynolds 0000-0001-6502-7173 79 Chiara Fenoglio 80 Christine Van Broeckhoven 0000-0003-0183-7665 81 Christopher Clark 0000-0001-7210-7702 82 Claudia Pisanu 0000-0002-9151-4319 83 Claudia L. Satizabal 0000-0002-1115-4430 84 Clive Holmes 85 Dolores Buiza-Rueda 86 Dag Aarsland 0000-0001-6314-216x 87 Dan Rujescu 88 Daniel Alcolea 0000-0002-3819-3245 89 Daniela Galimberti 0000-0002-9284-5953 90 David Wallon 0000-0002-2634-7198 91 Davide Seripa 92 Edna Grünblatt 0000-0001-8505-7265 93 Efthimios Dardiotis 94 Emrah Düzel 95 Elio Scarpini 96 Elisa Conti 97 Elisa Rubino 98 Ellen Gelpi 99 Eloy Rodriguez-Rodriguez 0000-0001-7742-677x 100 Emmanuelle Duron 101 Eric Boerwinkle 102 Evelyn Ferri 103 Fabrizio Tagliavini 104 Fahri Küçükali 0000-0002-3835-9639 105 Florence Pasquier 0000-0001-9880-9788 106 Florentino Sanchez-Garcia 107 Francesca Mangialasche 108 Frank Jessen 109 Gaël Nicolas 0000-0001-9391-7800 110 Geir Selbæk 0000-0001-6511-8219 111 Gemma Ortega 112 Geneviève Chêne 113 Georgios Hadjigeorgiou 114 Giacomina Rossi 115 Gianfranco Spalletta 116 Giorgio Giaccone 117 Giulia Grande 118 Giuliano Binetti 119 Goran Papenberg 120 Harald Hampel 121 Henri Bailly 122 Henrik Zetterberg 0000-0003-3930-4354 123 Hilkka Soininen 0000-0002-2785-9937 124 Ida K. Karlsson 125 Ignacio Alvarez 0000-0002-8537-3935 126 Ildebrando Appollonio 127 Ina Giegling 128 Ingmar Skoog 129 Ingvild Saltvedt 0000-0002-7897-9808 130 Innocenzo Rainero 131 Irene Rosas Allende 132 Jakub Hort 133 Janine Diehl-Schmid 134 Jasper Van Dongen 0000-0001-5599-0046 135 Jean-Sebastien Vidal 0000-0001-6770-0720 136 Jenni Lehtisalo 137 Jens Wiltfang 138 Jesper Qvist Thomassen 139 Johannes Kornhuber 0000-0002-8096-3987 140 Jonathan L. Haines 0000-0002-4351-4728 141 Jonathan Vogelgsang 0000-0001-9326-8193 142 Juan A. Pineda 0000-0002-3751-0296 143 Juan Fortea 144 Julius Popp 145 Jürgen Deckert 146 Katharina Buerger 147 Kevin Morgan 0000-0002-8217-2396 148 Klaus Fließbach 149 Kristel Sleegers 0000-0002-0283-2332 150 Laura Molina-Porcel 151 Lena Kilander 152 Leonie Weinhold 153 Lindsay A. Farrer 0000-0001-5533-4225 154 Li-San Wang 155 Luca Kleineidam 156 Lucia Farotti 157 Lucilla Parnetti 158 Lucio Tremolizzo 159 Lucrezia Hausner 160 Luisa Benussi 161 Lutz Froelich 162 M. Arfan Ikram 0000-0003-0372-8585 163 M. Candida Deniz-Naranjo 164 Magda Tsolaki 0000-0002-2072-8010 165 Maitée Rosende-Roca 166 Malin Löwenmark 167 Marc Hulsman 168 Marco Spallazzi 169 Margaret A. Pericak-Vance 0000-0001-7283-8804 170 Margaret Esiri 171 María Bernal Sánchez-Arjona 172 Maria Carolina Dalmasso 173 María Teresa Martínez-Larrad 174 Marina Arcaro 175 Markus M. Nöthen 176 Marta Fernández-Fuertes 177 Martin Dichgans 0000-0002-0654-387x 178 Martin Ingelsson 179 Martin J. Herrmann 180 Martin Scherer 181 Martin Vyhnalek 182 Mary H. Kosmidis 183 Mary Yannakoulia 184 Matthias Schmid 185 Michael Ewers 0000-0001-5231-1714 186 Michael T. Heneka 187 Michael Wagner 0000-0003-2589-6440 188 Michela Scamosci 189 Miia Kivipelto 190 Mikko Hiltunen 191 Miren Zulaica 192 Montserrat Alegret 193 Myriam Fornage 194 Natalia Roberto 195 Natasja M. van Schoor 196 Nazib M. Seidu 197 Nerisa Banaj 198 Nicola J. Armstrong 199 Nikolaos Scarmeas 200 Norbert Scherbaum 201 Oliver Goldhardt 202 Oliver Hanon 203 Oliver Peters 204 Olivia Anna Skrobot 205 Olivier Quenez 0000-0002-8273-8505 206 Ondrej Lerch 207 Paola Bossù 0000-0002-1432-0078 208 Paolo Caffarra 209 Paolo Dionigi Rossi 210 Paraskevi Sakka 211 Per Hoffmann 212 Peter A. Holmans 0000-0003-0870-9412 213 Peter Fischer 214 Peter Riederer 215 Qiong Yang 0000-0002-2442-2094 216 Rachel Marshall 217 Rajesh N. Kalaria 218 Richard Mayeux 219 Rik Vandenberghe 220 Roberta Cecchetti 221 Roberta Ghidoni 222 Ruth Frikke-Schmidt 223 Sandro Sorbi 224 Sara Hägg 0000-0002-2452-1500 225 Sebastiaan Engelborghs 226 Seppo Helisalmi 227 Sigrid Botne Sando 228 Silke Kern 229 Silvana Archetti 230 Silvia Boschi 231 Silvia Fostinelli 232 Silvia Gil 233 Silvia Mendoza 234 Simon Mead 235 Simona Ciccone 236 Srdjan Djurovic 0000-0002-8140-8061 237 Stefanie Heilmann-Heimbach 238 Steffi Riedel-Heller 239 Teemu Kuulasmaa 240 Teodoro del Ser 241 Thibaud Lebouvier 242 Thomas Polak 243 Tiia Ngandu 244 Timo Grimmer 245 Valentina Bessi 0000-0002-6176-3584 246 Valentina Escott-Price 0000-0003-1784-5483 247 Vilmantas Giedraitis 0000-0003-3423-2021 248 Vincent Deramecourt 249 Wolfgang Maier 250 Xueqiu Jian 0000-0002-0313-6494 251 Yolande A. L. Pijnenburg 252 A. David Smith 253 Aldo Saenz 254 Alessandra Bizzarro 255 Alessandra Lauria 256 Alessandro Vacca 257 Alina Solomon 258 Anna Anastasiou 259 Anna Richardson 260 Anne Boland 261 Anne Koivisto 262 Antonio Daniele 263 Antonio Greco 264 Arnaoutoglou Marianthi 265 Bernadette McGuinness 266 Bertrand Fin 267 Camilla Ferrari 268 Carlo Custodero 269 Carlo Ferrarese 270 Carlos Ingino 271 Carlos Mangone 272 Carlos Reyes Toso 273 Carmen Martínez 274 Carolina Cuesta 275 Carolina Muchnik 276 Catharine Joachim 277 Cecilia Ortiz 278 Céline Besse 279 Charlotte Johansson 280 Chiara Paola Zoia 281 Christoph Laske 282 Costas Anastasiou 283 Dana Lis Palacio 284 Daniel G. Politis 285 Daniel Janowitz 286 David Craig 287 David M. Mann 288 David Neary 289 Deckert Jürgen 290 Delphine Daian 291 Diyana Belezhanska 292 Eduardo Kohler 293 Eduardo M. Castaño 294 Effrosyni Koutsouraki 295 Elena Chipi 296 Ellen De Roeck 297 Emanuele Costantini 298 Emma R. L. C. Vardy 299 Fabrizio Piras 300 Fausto Roveta 301 Federica Piras 302 Federico Ariel Prestia 303 Francesca Assogna 304 Francesca Salani 305 Gessica Sala 306 Giordano Lacidogna 307 Gisela Novack 308 Gordon Wilcock 309 Håkan Thonberg 310 Heike Kölsch 311 Heike Weber 312 Henning Boecker 313 Ignacio Etchepareborda 314 Irene Piaceri 315 Jaakko Tuomilehto 316 Jaana Lindström 317 Jan Laczo 318 Janet Johnston 319 Jean-François Deleuze 320 Jenny Harris 321 Jonathan M. Schott 322 Josef Priller 323 Juan Ignacio Bacha 324 Julie Snowden 325 Julieta Lisso 326 Kalina Yonkova Mihova 327 Latchezar Traykov 328 Laura Morelli 329 Luis Ignacio Brusco 330 Malik Rainer 331 Mari Takalo 332 Maria Bjerke 333 Maria Del Zompo 334 Maria Serpente 335 Mariana Sanchez Abalos 0000-0001-9299-2534 336 Mario Rios 337 Markku Peltonen 338 Martin J. Herrman 339 Mary H. Kosmidis 340 Matias Kohler 341 Matias Rojo 342 Matthew Jones 343 Michela Orsini 344 Nancy Medel 345 Natividad Olivar 346 Nick C. Fox 347 Nicola Salvadori 348 Nigel M. Hooper 349 Pablo Galeano 350 Patricia Solis 351 Patrizia Bastiani 352 Patrizia Mecocci 353 Peter Passmore 354 Reinhard Heun 355 Riitta Antikainen 356 Robert Olaso 357 Robert Perneczky 358 Sandra Germani 359 Sara López-García 360 Seth Love 361 Shima Mehrabian 362 Silvia Bagnoli 363 Silvia Kochen 364 Simona Andreoni 365 Stefan Teipel 366 Stephen Todd 367 Stuart Pickering-Brown 368 Teemu Natunen 369 Thomas Tegos 370 Tiina Laatikainen 371 Timo Strandberg 372 Tuomo M. Polvikoski 373 Vaclav Matoska 374 Valentina Ciullo 375 Valeria Cores 376 Vincenzo Solfrizzi 377 Viviana Lisetti 378 Zulma Sevillano 379 C. Abdelnour 380 N. Aguilera 381 E. Alarcon 382 M. Alegret 383 A. Benaque 384 M. Boada 385 M. Buendia 386 P. Cañabate 387 A. Carracedo 388 A. Corbatón-Anchuelo 389 I. de Rojas 390 S. Diego 391 A. Espinosa 392 A. Gailhajenet 393 P. García-González 394 S. Gil 395 M. Guitart 396 A. González-Pérez 397 I. Hernández 398 M. Ibarria 399 A. Lafuente 400 J. Macias 401 O. Maroñas 402 E. Martín 403 M. T. Martínez 404 M. Marquié 405 A. Mauleón 406 L. Montrreal 407 S. Moreno-Grau 408 M. Moreno 409 A. Orellana 410 G. Ortega 411 A. Pancho 412 E. Pelejá 413 A. Pérez-Cordon 414 J. A. Pineda 415 S. Preckler 416 I. Quintela 417 L. M. Real 418 M. Rosende-Roca 419 A. Ruiz 420 M. E. Sáez 421 A. Sanabria 422 M. Serrano-Rios 423 O. Sotolongo-Grau 424 L. Tárraga 425 S. Valero 426 L. Vargas 427 A. D. Adarmes-Gómez 428 E. Alarcón-Martín 429 M. D. Alonso 430 I. Álvarez 431 V. Álvarez 432 G. Amer-Ferrer 433 M. Antequera 434 C. Antúnez 435 M. Baquero 436 M. Bernal 437 R. Blesa 438 M. Boada 439 D. Buiza-Rueda 440 M. J. Bullido 441 J. A. Burguera 442 M. Calero 443 F. Carrillo 444 M. Carrión-Claro 445 M. J. Casajeros 446 J. Clarimón 447 J. M. Cruz-Gamero 448 M. M. de Pancorbo 449 I. de Rojas 450 T. del Ser 451 M. Diez-Fairen 452 R. Escuela 453 L. Garrote-Espina 454 J. Fortea 455 E. Franco-Macías 456 A. Frank-García 457 J. M. García-Alberca 458 S. Garcia Madrona 459 G. Garcia-Ribas 460 P. Gómez-Garre 461 I. Hernández 462 S. Hevilla 463 S. Jesús 464 M. A. Labrador Espinosa 465 C. Lage 466 A. Legaz 467 A. Lleó 468 A. Lopez de Munain 469 S. López-García 470 D. Macias-García 471 S. Manzanares 472 M. Marín 473 J. Marín-Muñoz 474 T. Marín 475 M. Marquié 476 A. Martín Montes 477 B. Martínez 478 C. Martínez 479 V. Martínez 480 P. Martínez-Lage Álvarez 481 M. Medina 482 M. Mendioroz Iriarte 483 M. Menéndez-González 484 P. Mir 485 J. L. Molinuevo 486 P. Pastor 487 J. Pérez Tur 488 T. Periñán-Tocino 489 R. Pineda-Sanchez 490 G. Piñol-Ripoll 491 A. Rábano 492 D. Real de Asúa 493 S. Rodrigo 494 E. Rodríguez-Rodríguez 495 J. L. Royo 496 A. Ruiz 497 R. Sanchez del Valle Díaz 498 P. Sánchez-Juan 499 I. Sastre 500 S. Valero 501 M. P. Vicente 502 R. Vigo-Ortega 503 L. Vivancos 504 C. Macleod 505 C. McCracken 506 Carol Brayne 507 Catherine Bresner 508 Detelina Grozeva 509 Eftychia Bellou 510 Ewen W. Sommerville 511 F. Matthews 512 Ganna Leonenko 513 Georgina Menzies 514 Gill Windle 515 Janet Harwood 516 Judith Phillips 517 K. Bennett 518 Lauren Luckuck 519 Linda Clare 520 Robert Woods 521 Salha Saad 522 Vanessa Burholt 523 Iris E. Jansen 524 Arvid Rongve 525 Patrick Gavin Kehoe 0000-0002-7542-1139 526 Guillermo Garcia-Ribas 527 Pascual Sánchez-Juan 0000-0002-6081-8037 528 Pau Pastor 0000-0002-7493-8777 529 Jordi Pérez-Tur 0000-0002-9111-1712 530 Gerard Piñol-Ripoll 531 Adolfo Lopez de Munain 0000-0002-9509-4032 532 Jose María García-Alberca 0000-0003-2951-6644 533 María J. Bullido 0000-0002-6477-1117 534 Victoria Álvarez 535 Alberto Lleó 0000-0002-2568-5478 536 Luis M. Real 0000-0003-4932-7429 537 Pablo Mir 538 Miguel Medina 0000-0002-7016-5340 539 Philip Scheltens 540 Henne Holstege 0000-0002-7688-3087 541 Marta Marquié 542 María Eugenia Sáez 0000-0001-9299-2534 543 Ángel Carracedo 544 Philippe Amouyel 0000-0001-9088-234x 545 Gerard D. Schellenberg 546 Julie Williams 0000-0002-4069-0259 547 Sudha Seshadri 0000-0001-6135-2622 548 Cornelia M. van Duijn 0000-0002-2374-9204 549 Karen A. Mather 0000-0003-4143-8941 550 Raquel Sánchez-Valle 551 Manuel Serrano-Ríos 552 Adelina Orellana 553 Lluís Tárraga 554 Kaj Blennow 0000-0002-1890-4193 555 Martijn Huisman 556 Ole A. Andreassen 0000-0002-4461-3568 557 Danielle Posthuma 558 Jordi Clarimón 559 Mercè Boada 0000-0003-2617-3009 560 Wiesje M. van der Flier 0000-0001-8766-6224 561 Alfredo Ramirez 0000-0003-4991-763x 562 Jean-Charles Lambert 0000-0003-0829-7817 563 Sven J. van der Lee 0000-0003-1606-8643 564 Agustín Ruiz 0000-0003-2633-2495 565 (EADB contributors) 566 (The GR@ACE study group) 567 (DEGESCO consortium) 568 (IGAP (ADGC, CHARGE, EADI, GERAD)) 569 (PGC-ALZ consortia) 570 Vanessa Burholt 0000-0002-6789-127X 571 60591__24700__7a3137e8688b46bb863d88bff82387a6.pdf Common variants in Alzhiemers disease and risk stratification by polygenic risk scores Nature Communications Jun 21 (Offprint).pdf 2022-07-22T00:28:04.4234960 Output 4494160 application/pdf Version of Record true This article is licensed under a Creative Commons Attribution 4.0 International License true eng http://creativecommons.org/licenses/by/4.0/ |
| title |
Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores |
| spellingShingle |
Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores Vanessa Burholt |
| title_short |
Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores |
| title_full |
Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores |
| title_fullStr |
Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores |
| title_full_unstemmed |
Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores |
| title_sort |
Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores |
| author_id_str_mv |
cf7fe9863906cd54df5b0a99904d535e |
| author_id_fullname_str_mv |
cf7fe9863906cd54df5b0a99904d535e_***_Vanessa Burholt |
| author |
Vanessa Burholt |
| author2 |
Itziar de 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 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) Vanessa Burholt |
| format |
Journal article |
| container_title |
Nature Communications |
| container_volume |
12 |
| container_issue |
1 |
| publishDate |
2021 |
| institution |
Swansea University |
| issn |
2041-1723 |
| doi_str_mv |
10.1038/s41467-021-22491-8 |
| publisher |
Springer Science and Business Media LLC |
| college_str |
Faculty of Medicine, Health and Life Sciences |
| hierarchytype |
|
| hierarchy_top_id |
facultyofmedicinehealthandlifesciences |
| hierarchy_top_title |
Faculty of Medicine, Health and Life Sciences |
| hierarchy_parent_id |
facultyofmedicinehealthandlifesciences |
| hierarchy_parent_title |
Faculty of Medicine, Health and Life Sciences |
| department_str |
The Centre for Innovative Ageing{{{_:::_}}}Faculty of Medicine, Health and Life Sciences{{{_:::_}}}The Centre for Innovative Ageing |
| document_store_str |
1 |
| active_str |
0 |
| description |
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. |
| published_date |
2021-06-07T04:18:50Z |
| _version_ |
1763754251456086016 |
| score |
11.013731 |