Sven J. van der Lee

ORCID: 0000-0003-1606-8643
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Research Areas
  • Genetic Associations and Epidemiology
  • Alzheimer's disease research and treatments
  • Bioinformatics and Genomic Networks
  • Dementia and Cognitive Impairment Research
  • Genetics and Neurodevelopmental Disorders
  • Genomics and Rare Diseases
  • Neuroinflammation and Neurodegeneration Mechanisms
  • Nutrition, Genetics, and Disease
  • Metabolomics and Mass Spectrometry Studies
  • Health, Environment, Cognitive Aging
  • Epigenetics and DNA Methylation
  • Folate and B Vitamins Research
  • Neurological diseases and metabolism
  • Prion Diseases and Protein Misfolding
  • Diet and metabolism studies
  • Machine Learning in Bioinformatics
  • Amyotrophic Lateral Sclerosis Research
  • Biological Research and Disease Studies
  • Genetics, Aging, and Longevity in Model Organisms
  • Tryptophan and brain disorders
  • Genomics and Phylogenetic Studies
  • Genomic variations and chromosomal abnormalities
  • Liver Disease Diagnosis and Treatment
  • Mitochondrial Function and Pathology
  • Functional Brain Connectivity Studies

Vrije Universiteit Amsterdam
2017-2025

Amsterdam University Medical Centers
2017-2025

Amsterdam Neuroscience
2017-2025

Delft University of Technology
2020-2024

University of Amsterdam
2019-2024

Trimbos Institute
2024

's Heeren Loo
2024

Erasmus MC
2013-2022

Amsterdam UMC Location Vrije Universiteit Amsterdam
2018-2022

Medical University of Graz
2022

Verneri Anttila Brendan Bulik‐Sullivan Hilary K. Finucane Raymond K. Walters José Brás and 95 more Laramie E. Duncan Valentina Escott‐Price Guido J. Falcone Padhraig Gormley Rainer Malik Nikolaos A. Patsopoulos Stephan Ripke Zhi Wei Dongmei Yu Phil H. Lee Patrick Turley Benjamin Grenier‐Boley Vincent Chouraki Yoichiro Kamatani Claudine Berr Luc Letenneur Didier Hannequin Philippe Amouyel Anne Boland Jean‐François Deleuze Emmanuelle Duron Badri N. Vardarajan Christiane Reitz Alison Goate Matthew J. Huentelman M. Ilyas Kamboh Eric B. Larson Ekaterina Rogaeva Peter St George‐Hyslop Hákon Hákonarson Walter A. Kukull Lindsay A. Farrer Lisa L. Barnes Thomas G. Beach F. Yesim Demirci Elizabeth Head Christine M. Hulette Gregory A. Jicha John S.K. Kauwe Jonathan Kaye James B. Leverenz Allan I. Levey Andrew P. Lieberman V. Shane Pankratz Wayne W. Poon Joseph F. Quinn Andrew J. Saykin Lon S. Schneider Amanda Smith Joshua A. Sonnen Robert A. Stern Vivianna M. Van Deerlin Linda J. Van Eldik Denise Harold Giancarlo Russo David C. Rubinsztein Antony Bayer Magda Tsolaki Petroula Proitsi Nick C. Fox Harald Hampel Michael J. Owen Simon Mead Peter Passmore Kevin Morgan Markus M. Nöthen Jonathan M. Schott Martin N. Rossor Michelle K. Lupton Per Hoffmann Johannes Kornhuber Brian Lawlor Andrew McQuillin Ammar Al‐Chalabi Joshua C. Bis Agustı́n Ruiz Merçé Boada Sudha Seshadri Alexa S. Beiser Kenneth Rice Sven J. van der Lee Philip L. De Jager Daniel H. Geschwind Markus J. Riemenschneider Steffi G. Riedel‐Heller Jerome I. Rotter Gerhard Ransmayr Bradley T. Hyman Carlos Cruchaga Montserrat Alegret Bendik S. Winsvold Priit Palta Kai-How Farh Ester Cuenca-León Nicholas A. Furlotte

Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified genetic sharing 25 disorders from genome-wide association studies 265,218 patients 784,643 control participants assessed relationship to 17 phenotypes 1,191,588 individuals. Psychiatric common variant risk, whereas neurological appear more distinct one another psychiatric disorders. also identified significant between a number...

10.1126/science.aap8757 article EN Science 2018-06-21
Céline Bellenguez Fahri Küçükali Iris E. Jansen Luca Kleineidam Sonia Moreno‐Grau and 95 more Najaf Amin Adam C. Naj Rafael Campos‐Martin Benjamin Grenier‐Boley Víctor Andrade Peter Holmans Anne Boland Vincent Damotte Sven J. van der Lee Marcos R. Costa Teemu Kuulasmaa Qiong Yang Itziar de Rojas Joshua C. Bis Amber Yaqub Ivana Nedeljković Julien Chapuis Shahzad Ahmad Vilmantas Giedraitis Dag Aarsland Pablo García‐González Carla Abdelnour Emilio Alarcón‐Martín Daniel Alcolea Montserrat Alegret Ignacio Álvarez Victoria Álvarez Nicola J. Armstrong Anthoula Tsolaki Carmen Antúnez Ildebrando Appollonio Marina Arcaro Silvana Archetti Alfonso Arias Pastor Beatrice Arosio Lavinia Athanasiu Henri Bailly Nerisa Banaj Miquel Baquero Sandra Barral Alexa S. Beiser Ana Belén Pastor Jennifer E. Below Penelope Benchek Luisa Benussi Claudine Berr Céline Besse Valentina Bessi Giuliano Binetti Alessandra Bizarro Rafael Blesa Merçé Boada Eric Boerwinkle Barbara Borroni Silvia Boschi Paola Bossù Geir Bråthen Jan Bressler Catherine Bresner Henry Brodaty Keeley J. Brookes Luis I. Brusco Dolores Buiza‐Rueda Katharina Bürger Vanessa Burholt William S. Bush Miguel Calero Laura B. Cantwell Geneviève Chêne Jaeyoon Chung Michael L. Cuccaro Ángel Carracedo Roberta Cecchetti Laura Cervera‐Carles Camille Charbonnier Hung‐Hsin Chen Caterina Chillotti Simona Ciccone Jurgen A.H.R. Claassen Christopher Clark Elisa Conti Anaïs Corma‐Gómez Emanuele Maria Costantini Carlo Custodero Delphine Daian Carolina Dalmasso Antonio Daniele Efthimios Dardiotis Jean‐François Dartigues Peter Paul De Deyn Kátia de Paiva Lopes Lot D. de Witte Stéphanie Debette Jürgen Deckert Teodoro del Ser

Abstract Characterization of the genetic landscape Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for better understanding associated pathophysiological processes. We performed two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases 677,663 controls. found 75 risk loci, which 42 were new at time analysis. Pathway enrichment analyses confirmed involvement amyloid/tau pathways highlighted microglia implication. Gene...

10.1038/s41588-022-01024-z article EN cc-by Nature Genetics 2022-04-01
Aysu Okbay Jonathan Beauchamp Mark Alan Fontana James J. Lee Tune H. Pers and 95 more Cornelius A. Rietveld Patrick Turley Guo‐Bo Chen Valur Emilsson S. Fleur W. Meddens Sven Oskarsson Joseph K. Pickrell Kevin Thom Pascal Timshel Ronald de Vlaming Abdel Abdellaoui Tarunveer S. Ahluwalia Jonas Bacelis Clemens Baumbach Gyða Björnsdóttir J Brandsma Maria Pina Concas Jaime Derringer Nicholas A. Furlotte Tessel E. Galesloot Giorgia Girotto Richa Gupta Leanne M. Hall Sarah E. Harris Edith Hofer Momoko Horikoshi Jennifer E. Huffman Kadri Kaasik Ioanna Panagiota Kalafati Robert Karlsson Augustine Kong Jari Lahti Sven J. van der Lee C. deLeeuw Penelope A. Lind Karl‐Oskar Lindgren Tian Liu Massimo Mangino Jonathan Marten Evelin Mihailov Michael B. Miller Peter J. van der Most Christopher Oldmeadow Antony Payton Natalia Pervjakova Wouter J. Peyrot Yong Qian Olli Raitakari Rico Rueedi Erika Salvi Börge Schmidt Katharina E. Schraut Jianxin Shi Albert V. Smith Raymond A. Poot Beaté St Pourcain Alexander Teumer Gudmar Thorleifsson Niek Verweij Dragana Vuckovic Juergen Wellmann Harm-Jan Westra Jingyun Yang Wei Zhao Zhihong Zhu Behrooz Z. Alizadeh Najaf Amin Andrew Bakshi Sebastian E. Baumeister Ginevra Biino Klaus Bønnelykke Patricia A. Boyle Harry Campbell Francesco P. Cappuccio Gail Davies Jan-Emmanuel De Neve Panos Deloukas Ilja Demuth Jun Ding Peter Eibich Lewin Eisele Niina Eklund David M. Evans Jessica D. Faul Mary F. Feitosa Andreas J. Forstner Ilaria Gandin Bjarni Gunnarsson Bjarni V. Halldórsson Tamara B. Harris Andrew C. Heath Lynne J. Hocking Elizabeth G. Holliday Georg Homuth Michael A. Horan

10.1038/nature17671 article EN Nature 2016-05-10
Aysu Okbay Bart M. L. Baselmans Jan-Emmanuel De Neve Patrick Turley Michel G. Nivard and 95 more Mark Alan Fontana S Fleur W Meddens Richard Karlsson Linnér Cornelius A. Rietveld Jaime Derringer Jacob Gratten James J. Lee Jimmy Z. Liu Ronald de Vlaming Tarunveer S. Ahluwalia Jadwiga Buchwald Alana Cavadino Alexis C. Wood Nicholas A. Furlotte Victoria Garfield Marie Henrike Geisel Juan R Gonzalez Saskia Haitjema Robert Karlsson Sander W. van der Laan Karl-Heinz Ladwig Jari Lahti Sven J. van der Lee Penelope A. Lind Tian Liu Lindsay Matteson Evelin Mihailov Michael Miller Camelia C. Minică Ilja M. Nolte Dennis O. Mook‐Kanamori Peter J. van der Most Christopher Oldmeadow Yong Qian Olli Raitakari Rajesh Rawal Anu Realo Rico Rueedi Börge Schmidt Albert V. Smith Evie Stergiakouli Toshiko Tanaka Kent D. Taylor Gudmar Thorleifsson Juho Wedenoja Juergen Wellmann Harm-Jan Westra Sara M. Willems Wei Zhao Najaf Amin Andrew Bakshi Sven Bergmann Gyða Björnsdóttir Patricia A. Boyle Samantha Cherney Simon R. Cox Gail Davies Oliver S. P. Davis Jun Ding Neşe Direk Peter Eibich Rebecca T. Emeny Ghazaleh Fatemifar Jessica D. Faul Luigi Ferrucci Andreas J. Forstner Christian Gieger Richa Gupta Tamara B Harris Juliette Harris Elizabeth G. Holliday Jouke-Jan Hottenga Philip L De Jager Marika Kaakinen Eero Kajantie Ville Karhunen Ivana Kolčić Meena Kumari Lenore J Launer Lude Franke Ruifang Li‐Gao David C. Liewald Marisa Koini Anu Loukola Pedro Marques‐Vidal Grant W. Montgomery Miriam A. Mosing Lavinia Paternoster Alison Pattie Katja Petrovic Laura Pulkki-Råback Lydia Quaye Katri Räikkönen Igor Rudan Rodney J. Scott

10.1038/ng.3552 article EN Nature Genetics 2016-04-18
Rebecca Sims Sven J. van der Lee Adam C. Naj Céline Bellenguez Nandini Badarinarayan and 95 more Jóhanna Jakobsdóttir Brian W. Kunkle Anne Boland Rachel Raybould Joshua C. Bis Eden R. Martin Benjamin Grenier‐Boley Stefanie Heilmann‐Heimbach Vincent Chouraki Amanda Kuzma Kristel Sleegers Maria Vronskaya Agustı́n Ruiz Robert Graham Robert Olaso Per Hoffmann Megan L. Grove Badri N. Vardarajan Mikko Hiltunen Markus M. Nöthen Charles C. White Kara L. Hamilton‐Nelson Jacques Epelbaum Wolfgang Maier Seung-Hoan Choi Gary W. Beecham Cécile Dulary Stefan Herms Albert V. Smith Cory C. Funk Céline Derbois Andreas J. Forstner Shahzad Ahmad Hong‐Dong Li Delphine Bacq Denise Harold Claudia L. Satizábal Otto Valladares Alessio Squassina Rhodri Thomas Jennifer A. Brody Liming Qu Pascual Sánchez‐Juan Taniesha Morgan Frank J. Wolters Yi Zhao Florentino Sanchez‐García Nicola Denning Myriam Fornage John Malamon María Cándida Déniz Naranjo Elisa Majounie Thomas H. Mosley Beth A. Dombroski David Wallon Michelle K. Lupton Josée Dupuis Patrice L. Whitehead Laura Fratiglioni Christopher Medway Xueqiu Jian Shubhabrata Mukherjee Lina Keller Kristelle Brown Honghuang Lin Laura B. Cantwell Francesco Panza Bernadette McGuinness Sonia Moreno‐Grau Jeremy D. Burgess Vincenzo Solfrizzi Petroula Proitsi Hieab H.H. Adams Mariet Allen Davide Seripa Pau Pástor L. Adrienne Cupples Nathan D. Price Didier Hannequin Ana Frank Daniel Levy Paramita Chakrabarty Paolo Caffarra Ina Giegling Alexa S. Beiser Vilmantas Giedraitis Harald Hampel Melissa E. Garcia Xue Wang Lars Lannfelt Patrizia Mecocci Gudny Eiriksdottir Paul K. Crane Florence Pasquier Virginia Boccardi

10.1038/ng.3916 article EN Nature Genetics 2017-07-17
Aysu Okbay Yeda Wu Nancy Wang Hariharan Jayashankar Michael Bennett and 95 more Seyed Moeen Nehzati Julia Sidorenko Hyeokmoon Kweon Grant Goldman Tamara Gjorgjieva Yunxuan Jiang Barry Hicks Chao Tian David A. Hinds Rafael Ahlskog Patrik K. E. Magnusson Sven Oskarsson Caroline Hayward Archie Campbell David J. Porteous Jeremy Freese Pamela Herd Michelle Agee Babak Alipanahi Adam Auton Robert K. Bell Katarzyna Bryc Sarah L. Elson Pierre Fontanillas Nicholas A. Furlotte David A. Hinds Karen E. Huber Aaron Kleinman Nadia K. Litterman Jennifer C. McCreight Matthew H. McIntyre Joanna L. Mountain Carrie A. M. Northover Steven J. Pitts J. Fah Sathirapongsasuti Olga V. Sazonova Janie F. Shelton Suyash Shringarpure Joyce Y. Tung Vladimir Vacic Catherine H. Wilson Mark Alan Fontana Tune H. Pers Cornelius A. Rietveld Guo‐Bo Chen Valur Emilsson S. Fleur W. Meddens Joseph K. Pickrell Kevin Thom Pascal Timshel Ronald de Vlaming Abdel Abdellaoui Tarunveer S. Ahluwalia Jonas Bacelis Clemens Baumbach Gyða Björnsdóttir J Brandsma Maria Pina Concas Jaime Derringer Tessel E. Galesloot Giorgia Girotto Richa Gupta Leanne M. Hall Sarah E. Harris Edith Hofer Momoko Horikoshi Jennifer E. Huffman Kadri Kaasik Ioanna Panagiota Kalafati Robert Karlsson Jari Lahti Sven J. van der Lee Christiaan de Leeuw Penelope A. Lind Karl‐Oskar Lindgren Tian Liu Massimo Mangino Jonathan Marten Evelin Mihailov Michael Miller Peter J. van der Most Christopher Oldmeadow Antony Payton Natalia Pervjakova Wouter J. Peyrot Yong Qian Olli T. Raitakari Rico Rueedi Erika Salvi Börge Schmidt Katharina E. Schraut Jianxin Shi Albert V. Smith Raymond A. Poot Beaté St Pourcain

Abstract We conduct a genome-wide association study (GWAS) of educational attainment (EA) in sample ~3 million individuals and identify 3,952 approximately uncorrelated genome-wide-significant single-nucleotide polymorphisms (SNPs). A polygenic predictor, or index (PGI), explains 12–16% EA variance contributes to risk prediction for ten diseases. Direct effects (i.e., controlling parental PGIs) explain roughly half the PGI’s magnitude with other phenotypes. The correlation between mate-pair...

10.1038/s41588-022-01016-z article EN cc-by Nature Genetics 2022-03-31

Abstract Introduction The Alzheimer's Disease Research Summits of 2012 and 2015 incorporated experts from academia, industry, nonprofit organizations to develop new research directions transform our understanding disease (AD) propel the development critically needed therapies. In response their recommendations, big data at multiple levels are being generated integrated study network failures in disease. We used metabolomics as a global biochemical approach identify peripheral metabolic...

10.1016/j.jalz.2017.01.020 article EN publisher-specific-oa Alzheimer s & Dementia 2017-03-21
Gyungah Jun Carla A. Ibrahim‐Verbaas Maria Vronskaya Jean‐Charles Lambert Jaeyoon Chung and 95 more Adam C. Naj Brian W. Kunkle Li‐Shun Wang Joshua C. Bis Céline Bellenguez Denise Harold Kathryn L. Lunetta Anita L. DeStefano Benjamin Grenier‐Boley Rebecca Sims Gary W. Beecham Albert V. Smith Vincent Chouraki Kara L. Hamilton‐Nelson M. Arfan Ikram Nathalie Fiévet Nicola Denning Eden R. Martin Helena Schmidt Yoichiro Kamatani Melanie Dunstan Otto Valladares Agustín Ruiz Laza Diana Zélénika Alfredo Ramı́rez Tatiana Foroud Sung‐Hyuk Choi Anne Boland Tim Becker Walter A. Kukull Sven J. van der Lee Florence Pasquier Carlos Cruchaga Duane Beekly Annette L. Fitzpatrick Olivier Hanon Michael Gill Robert C. Barber Vilmundur Guðnason Dominique Campion Seth Love David A. Bennett Najaf Amin Claudine Berr Magda Tsolaki Joseph D. Buxbaum Oscar L. López Vincent Deramecourt Nick C. Fox Laura B. Cantwell Lluís Tárraga Carole Dufouil John Hardy Paul K. Crane Gudny Eiriksdottir Didier Hannequin Robert Clarke Denis A. Evans Thomas H. Mosley Luc Letenneur Carol Brayne Wolfgang Maier Philip L. De Jager Valur Emilsson Dartigues Jf Harald Hampel M. Ilyas Kamboh Renée F.A.G. de Bruijn Christophe Tzourio Pau Pástor Eric B. Larson Jerome I. Rotter Michael O’Donovan Thomas J. Montine Michael A. Nalls Simon Mead Eric M. Reiman Pálmi V. Jónsson Clive Holmes Peter St George‐Hyslop Merçé Boada Peter Passmore Jens R. Wendland R. Schmidt Kevin Morgan Ashley R. Winslow John Powell M Carasquillo Steven G. Younkin Jóhanna Jakobsdóttir John Kauwe Kirk C. Wilhelmsen Dan Rujescu Markus M. Nöthen Albert Hofman

10.1038/mp.2015.23 article EN Molecular Psychiatry 2015-03-17
Claudia L. Satizábal Hieab H.H. Adams Derrek P. Hibar Charles C. White Maria J. Knol and 95 more Jason L. Stein Markus Scholz Muralidharan Sargurupremraj Neda Jahanshad Gennady V. Roshchupkin Albert V. Smith Joshua C. Bis Xueqiu Jian Michelle Luciano Edith Hofer Alexander Teumer Sven J. van der Lee Jingyun Yang Lisa R. Yanek Tom V. Lee Shuo Li Yanhui Hu Jia Yu Koh John D. Eicher Sylvane Desrivières Alejandro Arias Väsquez Ganesh Chauhan Lavinia Athanasiu Miguel E. Rentería Sung Eun Kim David Hoehn Nicola J. Armstrong Qiang Chen Avram J. Holmes Anouk den Braber Iwona Kłoszewska Micael Andersson Thomas Espeseth O. Grimm Lucija Abramovic Saud Alhusaini Yuri Milaneschi Martina Papmeyer Tomas Axelsson Stefan Ehrlich Roberto Roiz‐Santiáñez Bernd Kraemer Asta K. Håberg Hannah Jones G. Bruce Pike Dan J. Stein Allison Stevens Janita Bralten Meike W. Vernooij Tamara B. Harris Irina Filippi A. Veronica Witte Tulio Guadalupe Katharina Wittfeld Thomas H. Mosley James T. Becker Nhat Trung Doan Saskia P. Hagenaars Yasaman Saba Gabriel Cuéllar-Partida Najaf Amin Saima Hilal Kwangsik Nho Nazanin Mirza‐Schreiber Konstantinos Arfanakis Diane M. Becker David Ames Aaron L. Goldman Phil Hyu Lee Dorret I. Boomsma Simon Lovestone Sudheer Giddaluru Stéphanie Le Hellard Manuel Mattheisen Marc M. Bohlken Dalia Kasperavičiūtė Lianne Schmaal Stephen M. Lawrie Ingrid Agartz Esther Walton Diana Tordesillas‐Gutiérrez Gareth E. Davies Jean Shin Jonathan Ipser Louis Vinke Martine Hoogman Tianye Jia Ralph Burkhardt Marieke Klein Fabrice Crivello Deborah Janowitz Owen Carmichael Unn K. Haukvik Benjamin S. Aribisala Helena Schmidt

10.1038/s41588-019-0511-y article EN Nature Genetics 2019-10-21
Hieab H.H. Adams Derrek P. Hibar Vincent Chouraki Jason L. Stein Paul Nyquist and 95 more Miguel E. Rentería Stella Trompet Alejandro Arias Väsquez Sudha Seshadri Sylvane Desrivières Ashley Beecham Neda Jahanshad Katharina Wittfeld Sven J. van der Lee Lucija Abramovic Saud Alhusaini Najaf Amin Micael Andersson Konstantinos Arfanakis Benjamin S. Aribisala Nicola J. Armstrong Lavinia Athanasiu Tomas Axelsson Alexa S. Beiser Manon Bernard Joshua C. Bis Laura M. E. Blanken Susan H. Blanton Marc M. Bohlken Marco P. Boks Janita Bralten Adam M. Brickman Owen Carmichael M. Mallar Chakravarty Ganesh Chauhan Qiang Chen Christopher R. K. Ching Gabriel Cuéllar-Partida Anouk den Braber Nhat Trung Doan Stefan Ehrlich Irina Filippi Tian Ge Sudheer Giddaluru Aaron L. Goldman Rebecca F. Gottesman Corina U. Greven O. Grimm Michael Griswold Tulio Guadalupe Johanna Haß Unn K. Haukvik Saima Hilal Edith Hofer David Hoehn Avram J. Holmes Martine Hoogman Deborah Janowitz Tianye Jia Dalia Kasperavičiūtė Sung Eun Kim Marieke Klein Bernd Kraemer Phil H. Lee Jiemin Liao David C. Liewald Lorna M. Lopez Michelle Luciano Christine Macare André F. Marquand Mar Matarín Karen A. Mather Manuel Mattheisen Bernard Mazoyer David R. McKay Rebekah McWhirter Yuri Milaneschi Nazanin Mirza‐Schreiber Ryan L. Muetzel Susana Muñoz Maniega Kwangsik Nho Allison C. Nugent Loes M. Olde Loohuis Jaap Oosterlaan Martina Papmeyer Irene Pappa Lukas Pirpamer Sara Pudas Benno Pütz Kumar B. Rajan Adaikalavan Ramasamy Jennifer S. Richards Shannon L. Risacher Roberto Roiz‐Santiáñez Nanda Rommelse Emma J. Rose Natalie A. Royle Tatjana Rundek Philipp G. Sämann Claudia L. Satizábal

10.1038/nn.4398 article EN Nature Neuroscience 2016-10-03
Joshua C. Bis Xueqiu Jian Brian W. Kunkle Yuning Chen Kara L. Hamilton‐Nelson and 95 more William S. Bush William Salerno Daniel Lancour Yiyi Ma Alan E. Renton Edoardo Marcora John Farrell Yi Zhao Liming Qu Shahzad Ahmad Najaf Amin Philippe Amouyel Gary W. Beecham Jennifer E. Below Dominique Campion Laura Cantwell Camille Charbonnier Jaeyoon Chung Paul K. Crane Carlos Cruchaga L. Adrienne Cupples Jean‐François Dartigues Stéphanie Debette Jean‐François Deleuze Lucinda A. Fulton Stacey Gabriel Emmanuelle Génin Richard A. Gibbs Alison Goate Benjamin Grenier‐Boley Namrata Gupta Jonathan L. Haines Aki S. Havulinna Seppo Helisalmi Mikko Hiltunen Daniel P. Howrigan M. Arfan Ikram Jaakko Kaprio Jan Konrad Amanda Kuzma Eric S. Lander Mark Lathrop Terho Lehtimäki Honghuang Lin Kari Mattila Richard Mayeux Donna M. Muzny Waleed Nasser Benjamin M. Neale Kwangsik Nho Gaël Nicolas Devanshi Patel Margaret A. Pericak‐Vance Markus Perola Bruce M. Psaty Olivier Quenez Farid Rajabli Richard Redon Christiane Reitz Anne M. Remes Veikko Salomaa Chloé Sarnowski Helena Schmidt Michael A. Schmidt Reinhold Schmidt Hilkka Soininen Timothy Thornton Giuseppe Tosto Christophe Tzourio Sven J. van der Lee Cornelia M. van Duijn Otto Valladares Badri N. Vardarajan Li-San Wang Weixin Wang Ellen M. Wijsman Richard K. Wilson Daniela Witten Kim C. Worley Xiaoling Zhang Céline Bellenguez Jean‐Charles Lambert Mitja I. Kurki Aarno Palotie Mark J. Daly Eric Boerwinkle Kathryn L. Lunetta Anita L. DeStefano Josée Dupuis Eden R. Martin Gerard D. Schellenberg Sudha Seshadri Adam C. Naj Myriam Fornage Lindsay A. Farrer

The Alzheimer's Disease Sequencing Project (ADSP) undertook whole exome sequencing in 5,740 late-onset Alzheimer disease (AD) cases and 5,096 cognitively normal controls primarily of European ancestry (EA), among whom 218 177 were Caribbean Hispanic (CH). An age-, sex- APOE based risk score family history used to select most likely harbor novel AD variants least develop by age 85 years. We tested ~1.5 million single nucleotide (SNVs) 50,000 insertion-deletion polymorphisms (indels) for...

10.1038/s41380-018-0112-7 article EN cc-by Molecular Psychiatry 2018-08-06

Abstract Introduction Metabolite, lipid, and lipoprotein lipid profiling can provide novel insights into mechanisms underlying incident dementia Alzheimer's disease. Methods We studied eight prospective cohorts with 22,623 participants profiled by nuclear magnetic resonance or mass spectrometry metabolomics. Four were used for discovery replication undertaken in the other four to avoid false positives. For metabolites that survived replication, combined association results are presented....

10.1016/j.jalz.2018.01.003 article EN cc-by-nc-nd Alzheimer s & Dementia 2018-03-05

Abstract Introduction Identifying circulating metabolites that are associated with cognition and dementia may improve our understanding of the pathogenesis provide crucial readouts for preventive therapeutic interventions. Methods We studied 299 in relation to (general cognitive ability) two discovery cohorts (N total = 5658). Metabolites significantly after adjusting multiple testing were replicated four independent 6652), associations Alzheimer's disease 25,872) lifestyle factors 5168)...

10.1016/j.jalz.2017.11.012 article EN cc-by-nc-nd Alzheimer s & Dementia 2018-01-06
Henne Holstege Marc Hulsman Camille Charbonnier Benjamin Grenier‐Boley Olivier Quenez and 95 more Detelina Grozeva Jeroen van Rooij Rebecca Sims Shahzad Ahmad Najaf Amin Penny J. Norsworthy Oriol Dols‐Icardo Holger Hummerich Amit Kawalia Philippe Amouyel Gary W. Beecham Claudine Berr Joshua C. Bis Anne Boland Paola Bossù Femke H. Bouwman José Brás Dominique Campion J. Nicholas Cochran Antonio Daniele Jean‐François Dartigues Stéphanie Debette Jean-François Deleuze Nicola Denning Anita L. DeStefano Lindsay A. Farrer María Victoria Fernández Nick C. Fox Daniela Galimberti Emmanuelle Génin Gilles Thomas Yann Le Guen Rita Guerreiro Jonathan L. Haines Clive Holmes M. Arfan Ikram M. Kamran Ikram Iris E. Jansen Robert Kraaij M Lathrop Afina W. Lemstra Alberto Lleó Lauren Luckcuck Marcel M.A.M. Mannens Iain Marshall Eden R. Martin Carlo Masullo Richard Mayeux Patrizia Mecocci Alun Meggy Merel O. Mol Kevin Morgan R Myers Benedetta Nacmias Adam C. Naj Valerio Napolioni Florence Pasquier Pau Pástor Margaret A. Pericak‐Vance Rachel Raybould Richard Redon Marcel J. T. Reinders Anne‐Claire Richard Steffi G. Riedel‐Heller Fernando Rivadeneira Stéphane Rousseau Natalie S. Ryan Salha Saad Pascual Sánchez-Juan Gerard D. Schellenberg Philip Scheltens Jonathan M. Schott Davide Seripa Sudha Seshadri Daoud Sie Erik A. Sistermans Sandro Sorbi Resie van Spaendonk Gianfranco Spalletta Niccoló Tesi Betty M. Tijms André G. Uitterlinden Sven J. van der Lee Pieter Jelle Visser Michael Wagner David Wallon Li-San Wang Aline Zaréa Jordi Clarimón John C. van Swieten Michael D. Greicius Jennifer S. Yokoyama Carlos Cruchaga John Hardy Alfredo Ramı́rez

Abstract Alzheimer’s disease (AD), the leading cause of dementia, has an estimated heritability approximately 70% 1 . The genetic component AD been mainly assessed using genome-wide association studies, which do not capture risk contributed by rare variants 2 Here, we compared gene-based burden damaging in exome sequencing data from 32,558 individuals—16,036 cases and 16,522 controls. Next to TREM2 , SORL1 ABCA7 observed a significant rare, predicted ATP8B4 ABCA1 with risk, suggestive signal...

10.1038/s41588-022-01208-7 article EN cc-by Nature Genetics 2022-11-21

Abstract Alzheimer’s disease (AD) is heterogenous at the molecular level. Understanding this heterogeneity critical for AD drug development. Here we define subtypes using mass spectrometry proteomics in cerebrospinal fluid, based on 1,058 proteins, with different levels individuals ( n = 419) compared to controls 187). These had alterations protein that were associated distinct processes: subtype 1 was characterized by proteins related neuronal hyperplasticity; 2 innate immune activation; 3...

10.1038/s43587-023-00550-7 article EN cc-by Nature Aging 2024-01-09
Jiao Luo Jesper Qvist Thomassen Céline Bellenguez Benjamin Grenier‐Boley Itziar de Rojas and 91 more Atahualpa Castillo-Morales Kayenat Parveen Fahri Küçükali Aude Nicolas Oliver Peters Anja Schneider Martin Dichgans Dan Rujescu Norbert Scherbaum Jürgen Deckert Steffi G. Riedel‐Heller Lucrezia Hausner Laura Molina‐Porcel Emrah Düzel Timo Grimmer Jens Wiltfang Stefanie Heilmann‐Heimbach Susanne Moebus Thomas Tegos Nikolaos Scarmeas Jordi Clarimón Fermín Moreno Jordi Pèrez‐Tur María J. Bullido Pau Pástor Raquel Sánchez‐Valle Victoria Álvarez Merçé Boada Pablo García‐González Raquel Puerta Pablo Mir Luís Miguel Real Gerard Piñol‐Ripoll José María García‐Alberca José Luís Royo Eloy Rodríguez‐Rodríguez Hilkka Soininen Teemu Kuulasmaa Alexandre de Mendonça Shima Mehrabian Jakub Hort Martin Vyhnálek Sven J. van der Lee Caroline Graff Goran Papenberg Vilmantas Giedraitis Anne Boland Delphine Bacq‐Daian Jean‐François Deleuze Gaël Nicolas Carole Dufouil Florence Pasquier Olivier Hanon Stéphanie Debette Edna Grünblatt Julius Popp Luisa Benussi Daniela Galimberti Beatrice Arosio Patrizia Mecocci Vincenzo Solfrizzi Lucilla Parnetti Alessio Squassina Lucio Tremolizzo Barbara Borroni Benedetta Nacmias Sandro Sorbi Paolo Caffarra Davide Seripa Innocenzo Rainero Antonio Daniele Carlo Masullo Gianfranco Spalletta Julie Williams Philippe Amouyel Frank Jessen Patrick G. Kehoe Magda Tsolaki Giacomina Rossi Pascual Sánchez‐Juan Kristel Sleegers Martin Ingelsson Ole A. Andreassen Mikko Hiltunen Cornelia M. van Duijn Rebecca Sims Wiesje M. van der Flier Agustı́n Ruiz Alfredo Ramı́rez Jean‐Charles Lambert Ruth Frikke‐Schmidt

Importance An estimated 40% of dementia is potentially preventable by modifying 12 risk factors throughout the life course. However, robust evidence for most these lacking. Effective interventions should target in causal pathway to dementia. Objective To comprehensively disentangle aspects modifiable Alzheimer disease (AD) inspire new drug targeting and improved prevention. Design, Setting, Participants This genetic association study was conducted using 2-sample univariable multivariable...

10.1001/jamanetworkopen.2023.13734 article EN cc-by-nc-nd JAMA Network Open 2023-05-17
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