Genetic architecture of subcortical brain structures in 38,851 individuals

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • Claudia L. Satizabal - , University of Texas Health Science Center at San Antonio, National Institutes of Health (NIH), Boston University (Author)
  • Hieab H.H. Adams - , Erasmus University Rotterdam (Author)
  • Derrek P. Hibar - , Keck School of Medicine at University of Southern California (Author)
  • Charles C. White - , Broad Institute of Harvard University and MIT, Columbia University (Author)
  • Maria J. Knol - , Erasmus University Rotterdam (Author)
  • Jason L. Stein - , Keck School of Medicine at University of Southern California, University of North Carolina at Chapel Hill (Author)
  • Markus Scholz - , Leipzig University (Author)
  • Muralidharan Sargurupremraj - , Université de Bordeaux (Author)
  • Neda Jahanshad - , Keck School of Medicine at University of Southern California (Author)
  • Gennady V. Roshchupkin - , Erasmus University Rotterdam (Author)
  • Albert V. Smith - , University of Michigan, Ann Arbor, University of Iceland, Icelandic Heart Association (Author)
  • Joshua C. Bis - , University of Washington (Author)
  • Xueqiu Jian - , University of Texas Health Science Center at Houston (Author)
  • Michelle Luciano - , University of Edinburgh (Author)
  • Edith Hofer - , Medical University of Graz (Author)
  • Alexander Teumer - , University of Greifswald (Author)
  • Sven J. van der Lee - , Erasmus University Rotterdam (Author)
  • Jingyun Yang - , Rush University (Author)
  • Lisa R. Yanek - , Johns Hopkins Medicine (Author)
  • Tom V. Lee - , Baylor College of Medicine (Author)
  • Shuo Li - , Boston University (Author)
  • Yanhui Hu - , Harvard University (Author)
  • Jia Yu Koh - , Singapore National Eye Center (Author)
  • John D. Eicher - , National Institutes of Health (NIH) (Author)
  • Sylvane Desrivières - , King's College London (KCL) (Author)
  • Alejandro Arias-Vasquez - , Radboud University Nijmegen (Author)
  • Ganesh Chauhan - , Université de Bordeaux, Indian Institute of Science Bangalore (Author)
  • Lavinia Athanasiu - , University of Oslo (Author)
  • Miguel E. Rentería - , Queensland Institute of Medical Research (Author)
  • Sungeun Kim - , Indiana University-Purdue University Indianapolis (Author)
  • David Hoehn - , Max Planck Institute of Psychiatry (Author)
  • Nicola J. Armstrong - , Murdoch University (Author)
  • Qiang Chen - , Lieber Institute for Brain Development (Author)
  • Avram J. Holmes - , Yale University, Massachusetts General Hospital (Author)
  • Anouk den Braber - , Vrije Universiteit Amsterdam (VU), Amsterdam University Medical Centers (UMC) (Author)
  • Iwona Kloszewska - , Medical University of Łódź (Author)
  • Micael Andersson - , Umeå University (Author)
  • Thomas Espeseth - , University of Oslo (Author)
  • Oliver Grimm - , Heidelberg University  (Author)
  • Lucija Abramovic - , Utrecht University (Author)
  • Saud Alhusaini - , Royal College of Surgeons in Ireland, Yale University (Author)
  • Yuri Milaneschi - , Amsterdam University Medical Centers (UMC) (Author)
  • Martina Papmeyer - , University of Edinburgh, University of Bern (Author)
  • Tomas Axelsson - , Uppsala University (Author)
  • Stefan Ehrlich - , Division of Psychological and Social Medicine and Developmental Neurosciences, Massachusetts General Hospital (Author)
  • Roberto Roiz-Santiañez - , Hospital Universitario Marques de Valdecilla, CIBER - Center for Biomedical Research Network (Author)
  • Bernd Kraemer - , Heidelberg University  (Author)
  • Asta K. Håberg - , Norwegian University of Science and Technology, St Olavs' University Hospital (Author)
  • Hannah J. Jones - , University of Bristol, NIHR Bristol Biomedical Research Centre (BCR) (Author)
  • G. Bruce Pike - , University of Calgary (Author)
  • Dan J. Stein - , University of Cape Town, SAMRC Unit on Risk & Resilience in Mental Disorders (Author)
  • Allison Stevens - , Massachusetts General Hospital (Author)
  • Janita Bralten - , Radboud University Nijmegen (Author)
  • Meike W. Vernooij - , Erasmus University Rotterdam (Author)
  • Tamara B. Harris - , National Institutes of Health (NIH) (Author)
  • Irina Filippi - , Université Paris-Saclay (Author)
  • A. Veronica Witte - , Max Planck Institute for Human Cognitive and Brain Sciences, Leipzig University (Author)
  • Tulio Guadalupe - , Radboud University Nijmegen, Max Planck Institute for Psycholinguistics (Author)
  • Katharina Wittfeld - , University of Greifswald, German Center for Neurodegenerative Diseases (DZNE) (Author)
  • Thomas H. Mosley - , University of Mississippi (Author)
  • James T. Becker - , University of Pittsburgh (Author)
  • Nhat Trung Doan - , University of Oslo (Author)
  • Saskia P. Hagenaars - , University of Edinburgh (Author)
  • Yasaman Saba - , Medical University of Graz (Author)
  • Gabriel Cuellar-Partida - , Queensland Institute of Medical Research (Author)
  • Najaf Amin - , Erasmus University Rotterdam (Author)
  • Saima Hilal - , National University of Singapore, MOH Holdings Pte Ltd. (Author)
  • Kwangsik Nho - , Indiana University-Purdue University Indianapolis (Author)
  • Nazanin Mirza-Schreiber - , Max Planck Institute of Psychiatry, Helmholtz Zentrum München - German Research Center for Environmental Health (Author)
  • Konstantinos Arfanakis - , Rush University, Illinois Institute of Technology (Author)
  • Diane M. Becker - , Johns Hopkins Medicine (Author)
  • David Ames - , University of Melbourne, Royal Melbourne Hospital (Author)
  • Aaron L. Goldman - , Lieber Institute for Brain Development (Author)
  • Phil H. Lee - , Massachusetts General Hospital, Harvard University, Broad Institute of Harvard University and MIT (Author)
  • Dorret I. Boomsma - , Vrije Universiteit Amsterdam (VU), Amsterdam University Medical Centers (UMC) (Author)
  • Simon Lovestone - , University of Oxford, King's College London (KCL) (Author)
  • Sudheer Giddaluru - , University of Bergen, Haukeland universitets­sjukehus (Author)
  • Stephanie Le Hellard - , University of Bergen, Haukeland universitets­sjukehus (Author)
  • Manuel Mattheisen - , Aarhus University, The Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH), Karolinska Institutet, Stockholm County Council (Author)
  • Marc M. Bohlken - , Utrecht University (Author)
  • Dalia Kasperaviciute - , University College London, Epilepsy Society (Author)
  • Lianne Schmaal - , University of Melbourne, ORYGEN Youth Health (Author)
  • Stephen M. Lawrie - , University of Edinburgh (Author)
  • Ingrid Agartz - , University of Oslo, Karolinska Institutet, Diakonhjemmet Hospital (Author)
  • Esther Walton - , TUD Dresden University of Technology, University of Bath (Author)
  • Diana Tordesillas-Gutierrez - , CIBER - Center for Biomedical Research Network, Marqués de Valdecilla Research Institute (IDIVAL) (Author)
  • Gareth E. Davies - , Avera Health (Author)
  • Jean Shin - , University of Toronto (Author)
  • Jonathan C. Ipser - , University of Cape Town (Author)
  • Louis N. Vinke - , Boston University (Author)
  • Martine Hoogman - , Radboud University Nijmegen (Author)
  • Tianye Jia - , King's College London (KCL) (Author)
  • Ralph Burkhardt - , Leipzig University, University of Regensburg (Author)
  • Marieke Klein - , Radboud University Nijmegen (Author)
  • Fabrice Crivello - , Université de Bordeaux (Author)
  • Deborah Janowitz - , University of Greifswald (Author)
  • Owen Carmichael - , LSU Pennington Biomedical Research Center (Author)
  • Unn K. Haukvik - , University of Oslo (Author)
  • Benjamin S. Aribisala - , University of Edinburgh, Lagos State University (Author)
  • Helena Schmidt - , Medical University of Graz (Author)
  • Lachlan T. Strike - , Queensland Institute of Medical Research, University of Queensland (Author)
  • Ching Yu Cheng - , Singapore National Eye Center, National University of Singapore (Author)
  • Shannon L. Risacher - , Indiana University-Purdue University Indianapolis (Author)
  • Benno Pütz - , Max Planck Institute of Psychiatry (Author)
  • Debra A. Fleischman - , Rush University (Author)
  • Amelia A. Assareh - , University of New South Wales (Author)
  • Venkata S. Mattay - , Lieber Institute for Brain Development, Johns Hopkins Medicine (Author)
  • Randy L. Buckner - , Massachusetts General Hospital, Harvard University (Author)
  • Patrizia Mecocci - , University of Perugia (Author)
  • Anders M. Dale - , University of California at San Diego (Author)
  • Sven Cichon - , University of Basel, University of Bonn, Jülich Research Centre (Author)
  • Marco P. Boks - , Utrecht University (Author)
  • Mar Matarin - , University College London (Author)
  • Brenda W.J.H. Penninx - , Amsterdam University Medical Centers (UMC) (Author)
  • Vince D. Calhoun - , University of New Mexico, The Mind Research Network, Georgia State University (Author)
  • M. Mallar Chakravarty - , McGill University (Author)
  • Andre F. Marquand - , Radboud University Nijmegen (Author)
  • Christine Macare - , King's College London (KCL) (Author)
  • Shahrzad Kharabian Masouleh - , Max Planck Institute for Human Cognitive and Brain Sciences, Jülich Research Centre (Author)
  • Jaap Oosterlaan - , Vrije Universiteit Amsterdam (VU), University of Amsterdam (Author)
  • Philippe Amouyel - , Université de Lille, INSERM - Institut national de la santé et de la recherche médicale, University Hospital of Lille, Institut Pasteur de Lille (Author)
  • Katrin Hegenscheid - , University of Greifswald (Author)
  • Jerome I. Rotter - , University of California at Los Angeles (Author)
  • Andrew J. Schork - , Mental Health Center Sct. Hans, Translational Genomics Research Institute (Author)
  • David C.M. Liewald - , University of Edinburgh (Author)
  • Greig I. de Zubicaray - , Queensland University of Technology (Author)
  • Tien Yin Wong - , Singapore National Eye Center, Duke-NUS Medical School (Author)
  • Li Shen - , University of Pennsylvania (Author)
  • Philipp G. Sämann - , Max Planck Institute of Psychiatry (Author)
  • Henry Brodaty - , University of New South Wales (Author)
  • Joshua L. Roffman - , Massachusetts General Hospital (Author)
  • Eco J.C. de Geus - , Vrije Universiteit Amsterdam (VU), Amsterdam University Medical Centers (UMC) (Author)
  • Magda Tsolaki - , Aristotle University of Thessaloniki (Author)
  • Susanne Erk - , Department of Dermatology, Allergy and Venereology (Author)
  • Kristel R. van Eijk - , Utrecht University (Author)
  • Gianpiero L. Cavalleri - , Royal College of Surgeons in Ireland (Author)
  • Nic J.A. van der Wee - , Leiden University (Author)
  • Andrew M. McIntosh - , University of Edinburgh (Author)
  • Randy L. Gollub - , Massachusetts General Hospital, Harvard University (Author)
  • Kazima B. Bulayeva - , Dagestan State University (Author)
  • Manon Bernard - , University of Toronto (Author)
  • Jennifer S. Richards - , Radboud University Nijmegen, University of Groningen (Author)
  • Jayandra J. Himali - , National Institutes of Health (NIH), Boston University (Author)
  • Markus Loeffler - , Leipzig University (Author)
  • Nanda Rommelse - , Radboud University Nijmegen (Author)
  • Wolfgang Hoffmann - , German Center for Neurodegenerative Diseases (DZNE), University of Greifswald (Author)
  • Lars T. Westlye - , University of Oslo (Author)
  • Maria C. Valdés Hernández - , University of Edinburgh (Author)
  • Narelle K. Hansell - , Queensland Institute of Medical Research, University of Queensland (Author)
  • Theo G.M. van Erp - , University of California at Irvine (Author)
  • Christiane Wolf - , University of Würzburg (Author)
  • John B.J. Kwok - , University of Sydney, Neuroscience Research Australia, University of New South Wales (Author)
  • Bruno Vellas - , Université de Toulouse (Author)
  • Andreas Heinz - , Department of Dermatology, Allergy and Venereology (Author)
  • Loes M. Olde Loohuis - , University of California at Los Angeles (Author)
  • Norman Delanty - , Royal College of Surgeons in Ireland (Author)
  • Beng Choon Ho - , University of Iowa (Author)
  • Christopher R.K. Ching - , Keck School of Medicine at University of Southern California, University of California at Los Angeles (Author)
  • Elena Shumskaya - , Radboud University Nijmegen (Author)
  • Baljeet Singh - , University of California at Davis (Author)
  • Albert Hofman - , Erasmus University Rotterdam, Harvard University (Author)
  • Dennis van der Meer - , University of Oslo, Maastricht University (Author)
  • Georg Homuth - , University of Greifswald (Author)
  • Bruce M. Psaty - , University of Washington, Kaiser Permanente (Author)
  • Mark E. Bastin - , University of Edinburgh (Author)
  • Grant W. Montgomery - , University of Queensland (Author)
  • Tatiana M. Foroud - , Indiana University-Purdue University Indianapolis (Author)
  • Simone Reppermund - , University of New South Wales (Author)
  • Jouke Jan Hottenga - , Vrije Universiteit Amsterdam (VU), Amsterdam University Medical Centers (UMC) (Author)
  • Andrew Simmons - , NIHR Maudsley Biomedical Research Centre (BRC), King's College London (KCL), Karolinska Institutet (Author)
  • Andreas Meyer-Lindenberg - , Heidelberg University  (Author)
  • Wiepke Cahn - , Utrecht University (Author)
  • Christopher D. Whelan - , Keck School of Medicine at University of Southern California, Royal College of Surgeons in Ireland (Author)
  • Marjolein M.J. van Donkelaar - , Radboud University Nijmegen (Author)
  • Qiong Yang - , Boston University (Author)
  • Norbert Hosten - , University of Greifswald (Author)
  • Robert C. Green - , Harvard University (Author)
  • Anbupalam Thalamuthu - , University of New South Wales (Author)
  • Sebastian Mohnke - , Department of Dermatology, Allergy and Venereology (Author)
  • Hilleke E. Hulshoff Pol - , Utrecht University (Author)
  • Honghuang Lin - , National Institutes of Health (NIH), Boston University (Author)
  • Clifford R. Jack - , Mayo Clinic Rochester, MN (Author)
  • Peter R. Schofield - , Neuroscience Research Australia, University of New South Wales (Author)
  • Thomas W. Mühleisen - , Jülich Research Centre, University of Basel, Heinrich Heine University Düsseldorf (Author)
  • Pauline Maillard - , University of California at Davis (Author)
  • Steven G. Potkin - , University of California at Irvine (Author)
  • Wei Wen - , University of New South Wales (Author)
  • Evan Fletcher - , University of California at Davis (Author)
  • Arthur W. Toga - , Keck School of Medicine at University of Southern California (Author)
  • Oliver Gruber - , Heidelberg University  (Author)
  • Matthew Huentelman - , Translational Genomics Research Institute (Author)
  • George Davey Smith - , University of Bristol (Author)
  • Lenore J. Launer - , National Institutes of Health (NIH) (Author)
  • Lars Nyberg - , Umeå University (Author)
  • Erik G. Jönsson - , University of Oslo, Karolinska Institutet (Author)
  • Benedicto Crespo-Facorro - , Hospital Universitario Marques de Valdecilla, CIBER - Center for Biomedical Research Network (Author)
  • Nastassja Koen - , University of Cape Town, SAMRC Unit on Risk & Resilience in Mental Disorders (Author)
  • Douglas N. Greve - , Massachusetts General Hospital (Author)
  • André G. Uitterlinden - , Erasmus University Rotterdam (Author)
  • Daniel R. Weinberger - , Lieber Institute for Brain Development, Johns Hopkins Medicine (Author)
  • Vidar M. Steen - , University of Bergen, Haukeland universitets­sjukehus (Author)
  • Iryna O. Fedko - , Vrije Universiteit Amsterdam (VU) (Author)
  • Nynke A. Groenewold - , University of Cape Town (Author)
  • Wiro J. Niessen - , Erasmus University Rotterdam, Delft University of Technology (Author)
  • Roberto Toro - , Institut Pasteur Paris (Author)
  • Christophe Tzourio - , University Hospital of Bordeaux (Author)
  • William T. Longstreth - , University of Washington (Author)
  • M. Kamran Ikram - , Erasmus University Rotterdam (Author)
  • Jordan W. Smoller - , Massachusetts General Hospital, Harvard University, Broad Institute of Harvard University and MIT (Author)
  • Marie Jose van Tol - , University of Groningen (Author)
  • Jessika E. Sussmann - , University of Edinburgh (Author)
  • Tomas Paus - , Bloorview Research Institute, University of Toronto (Author)
  • Hervé Lemaître - , Université Paris-Saclay (Author)
  • Matthias L. Schroeter - , Leipzig University, Max Planck Institute for Human Cognitive and Brain Sciences (Author)
  • Bernard Mazoyer - , Université de Bordeaux (Author)
  • Ole A. Andreassen - , University of Oslo (Author)
  • Florian Holsboer - , Max Planck Institute of Psychiatry, HMNC Brain Health (Author)
  • Chantal Depondt - , Université libre de Bruxelles (ULB) (Author)
  • Dick J. Veltman - , Amsterdam University Medical Centers (UMC) (Author)
  • Jessica A. Turner - , The Mind Research Network, Georgia State University (Author)
  • Zdenka Pausova - , University of Toronto (Author)
  • Gunter Schumann - , King's College London (KCL) (Author)
  • Daan van Rooij - , Radboud University Nijmegen, University of Groningen (Author)
  • Srdjan Djurovic - , University of Bergen, University of Oslo (Author)
  • Ian J. Deary - , University of Edinburgh (Author)
  • Katie L. McMahon - , Queensland University of Technology (Author)
  • Bertram Müller-Myhsok - , Max Planck Institute of Psychiatry, Munich Cluster for Systems Neurology (SyNergy), University of Liverpool (UOL) (Author)
  • Rachel M. Brouwer - , Utrecht University (Author)
  • Hilkka Soininen - , University of Eastern Finland (Author)
  • Massimo Pandolfo - , Université libre de Bruxelles (ULB) (Author)
  • Thomas H. Wassink - , University of Iowa (Author)
  • Joshua W. Cheung - , Keck School of Medicine at University of Southern California (Author)
  • Thomas Wolfers - , Radboud University Nijmegen (Author)
  • Jean Luc Martinot - , Université Paris-Saclay (Author)
  • Marcel P. Zwiers - , Radboud University Nijmegen (Author)
  • Matthias Nauck - , University of Greifswald (Author)
  • Ingrid Melle - , University of Oslo (Author)
  • Nicholas G. Martin - , Queensland Institute of Medical Research (Author)
  • Ryota Kanai - , Araya Inc., University College London, University of Sussex (Author)
  • Eric Westman - , Karolinska Institutet (Author)
  • René S. Kahn - , Utrecht University, Icahn School of Medicine at Mount Sinai (Author)
  • Sanjay M. Sisodiya - , University College London, Epilepsy Society (Author)
  • Tonya White - , Erasmus University Rotterdam (Author)
  • Arvin Saremi - , Keck School of Medicine at University of Southern California (Author)
  • Hans van Bokhoven - , Radboud University Nijmegen (Author)
  • Han G. Brunner - , Radboud University Nijmegen, Maastricht University Medical Centre (UMC+), Maastricht University (Author)
  • Henry Völzke - , University of Greifswald (Author)
  • Margaret J. Wright - , University of Queensland (Author)
  • Dennis van ‘t Ent - , Vrije Universiteit Amsterdam (VU), Amsterdam University Medical Centers (UMC) (Author)
  • Markus M. Nöthen - , University of Bonn (Author)
  • Roel A. Ophoff - , University of California at Los Angeles, Erasmus University Rotterdam (Author)
  • Jan K. Buitelaar - , Radboud University Nijmegen (Author)
  • Guillén Fernández - , Radboud University Nijmegen (Author)
  • Perminder S. Sachdev - , University of New South Wales, Prince of Wales Hospital (Author)
  • Marcella Rietschel - , Heidelberg University  (Author)
  • Neeltje E.M. van Haren - , Utrecht University, Erasmus University Rotterdam (Author)
  • Simon E. Fisher - , Radboud University Nijmegen, Max Planck Institute for Psycholinguistics (Author)
  • Alexa S. Beiser - , National Institutes of Health (NIH), Boston University (Author)
  • Clyde Francks - , Radboud University Nijmegen, Max Planck Institute for Psycholinguistics (Author)
  • Andrew J. Saykin - , Indiana University-Purdue University Indianapolis (Author)
  • Karen A. Mather - , University of New South Wales, Neuroscience Research Australia (Author)
  • Nina Romanczuk-Seiferth - , Department of Dermatology, Allergy and Venereology (Author)
  • Catharina A. Hartman - , University of Groningen (Author)
  • Anita L. DeStefano - , National Institutes of Health (NIH), Boston University (Author)
  • Dirk J. Heslenfeld - , Vrije Universiteit Amsterdam (VU) (Author)
  • Michael W. Weiner - , University of California at San Francisco (Author)
  • Henrik Walter - , Department of Dermatology, Allergy and Venereology (Author)
  • Pieter J. Hoekstra - , University of Groningen (Author)
  • Paul A. Nyquist - , Johns Hopkins Medicine (Author)
  • Barbara Franke - , Radboud University Nijmegen (Author)
  • David A. Bennett - , Rush University (Author)
  • Hans J. Grabe - , University of Greifswald, German Center for Neurodegenerative Diseases (DZNE) (Author)
  • Andrew D. Johnson - , National Institutes of Health (NIH) (Author)
  • Christopher Chen - , National University of Singapore, MOH Holdings Pte Ltd. (Author)
  • Cornelia M. van Duijn - , Erasmus University Rotterdam, Leiden University (Author)
  • Oscar L. Lopez - , University of Pittsburgh (Author)
  • Myriam Fornage - , University of Texas Health Science Center at Houston (Author)
  • Joanna M. Wardlaw - , University of Edinburgh (Author)
  • Reinhold Schmidt - , Medical University of Graz (Author)
  • Charles DeCarli - , University of California at Davis (Author)
  • Philip L. De Jager - , Broad Institute of Harvard University and MIT, Columbia University (Author)
  • Arno Villringer - , Max Planck Institute for Human Cognitive and Brain Sciences, Leipzig University (Author)
  • Stéphanie Debette - , Boston University, Université de Bordeaux, University Hospital of Bordeaux (Author)
  • Vilmundur Gudnason - , University of Iceland, Icelandic Heart Association (Author)
  • Sarah E. Medland - , Queensland Institute of Medical Research (Author)
  • Joshua M. Shulman - , Baylor College of Medicine, Texas Children's Hospital Houston (Author)
  • Paul M. Thompson - , Keck School of Medicine at University of Southern California (Author)
  • Sudha Seshadri - , National Institutes of Health (NIH), Boston University (Author)
  • M. Arfan Ikram - , Erasmus University Rotterdam (Author)

Abstract

Subcortical brain structures are integral to motion, consciousness, emotions and learning. We identified common genetic variation related to the volumes of the nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen and thalamus, using genome-wide association analyses in almost 40,000 individuals from CHARGE, ENIGMA and UK Biobank. We show that variability in subcortical volumes is heritable, and identify 48 significantly associated loci (40 novel at the time of analysis). Annotation of these loci by utilizing gene expression, methylation and neuropathological data identified 199 genes putatively implicated in neurodevelopment, synaptic signaling, axonal transport, apoptosis, inflammation/infection and susceptibility to neurological disorders. This set of genes is significantly enriched for Drosophila orthologs associated with neurodevelopmental phenotypes, suggesting evolutionarily conserved mechanisms. Our findings uncover novel biology and potential drug targets underlying brain development and disease.

Details

Original languageEnglish
Pages (from-to)1624-1636
Number of pages13
JournalNature genetics
Volume51
Issue number11
Publication statusPublished - 1 Nov 2019
Peer-reviewedYes

External IDs

PubMed 31636452
ORCID /0000-0003-2132-4445/work/160950872

Keywords

ASJC Scopus subject areas