ArticleNature genetics2019
Genetic architecture of subcortical brain structures in 38,851 individuals.
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In one paragraph
Article in Nature genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 169 papers, 10 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
169citing papers in PubMed, 10 pooled it
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
169 citing papers in PubMed, 10 syntheses or guidelines pooled it.
- Consensus meta-analysis of genome-wide association studies for Alzheimer's disease and related dementias.Nature genetics · 2026Pooled it
- The genetic architecture of brainstem structures.Nature communications · 2025Pooled it
- Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome.Biological psychiatry · 2024Pooled it
- Causal association of COVID-19 with brain structure changes: Findings from a non-overlapping 2-sample Mendelian randomization study.Journal of the neurological sciences · 2023Pooled it
- Cross disorder comparisons of brain structure in schizophrenia, bipolar disorder, major depressive disorder, and 22q11.2 deletion syndrome: A review of ENIGMA findings.Psychiatry and clinical neurosciences · 2022Pooled it
- Genetic variants associated with longitudinal changes in brain structure across the lifespan.Nature neuroscience · 2022Pooled it
- A meta-analysis of deep brain structural shape and asymmetry abnormalities in 2,833 individuals with schizophrenia compared with 3,929 healthy volunteers via the ENIGMA Consortium.Human brain mapping · 2022Pooled it
- Sex-stratified genome-wide association study of multisite chronic pain in UK Biobank.PLoS genetics · 2021Pooled it
- Genetic factors influencing a neurobiological substrate for psychiatric disorders.Translational psychiatry · 2021Pooled it
- ENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries.Translational psychiatry · 2020Pooled it
- Shared Genetic Architecture Between Common Epilepsies and Subcortical Brain Volumes Is Associated With Cognition and Mental Health.CNS neuroscience & therapeutics · 2026Article
- Common alleles associated with connectivity within and across the brain's main functional networks.Nature communications · 2026Article
- Identification of comprehensive genetic factors, pathways, and shared genetic architecture of putamen volume in adolescent cohort.Translational psychiatry · 2026Article
- Human genetics across levels of biological organization.Nature reviews. Genetics · 2026Review
- Mapping Focal and Generalized Effects of Common Genetic Variants on Human Brain Structure.bioRxiv : the preprint server for biology · 2026Article
- Exploration of Genetic Overlap of Brain Phenotypes With Schizophrenia: Different Methods Provide Complementary Insights.Schizophrenia bulletin · 2026Article
- Genetic pathways linking oxytocin-vasotocin hypothalamic subunit architecture with psychiatric and metabolic traits.Molecular psychiatry · 2026Article
- Shared genetic architecture between Alzheimer's disease and brain morphology.Alzheimer's research & therapy · 2026Article
- Regional heterogeneity in phenotypic and genetic associations between bone and brain in humans.Nature communications · 2026Article
- Altered neurodevelopmental trajectories of brain structure in Tourette syndrome and Chronic Tic Disorders.medRxiv : the preprint server for health sciences · 2026Article
109 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
289 authors.
Claudia L Satizabal *Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, UT Health San Antonio, San Antonio, TX, USA. satizabal@uthscsa.edu.ORCID http://orcid.org/0000-0002-1115-4430
Hieab H H Adams *Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0003-3687-2508
Derrek P Hibar *Imaging Genetics Center, USC Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Charles C White *Cell Circuits Program, Broad Institute, Cambridge, MA, USA.
Maria J KnolDepartment of Epidemiology, Erasmus MC, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0002-3597-1531
Jason L SteinImaging Genetics Center, USC Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Markus ScholzInstitute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.ORCID http://orcid.org/0000-0002-4059-1779
Muralidharan SargurupremrajUniversity of Bordeaux, Inserm, Bordeaux Population Health Research Center, Team VINTAGE, UMR 1219, Bordeaux, France.
Neda JahanshadImaging Genetics Center, USC Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Gennady V RoshchupkinDepartment of Epidemiology, Erasmus MC, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0002-3403-2313
Albert V SmithDepartment of Biostatistics, University of Michigan, Ann Arbor, MI, USA.
Joshua C BisCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.
Xueqiu JianThe Brown Foundation Institute of Molecular Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA.
Michelle LucianoDepartment of Psychology, Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-7306-3008
Edith HoferClinical Division of Neurogeriatrics, Department of Neurology, Medical University of Graz, Graz, Austria.
Alexander TeumerInstitute for Community Medicine, University Medicine Greifswald, Greifswald, Germany.ORCID http://orcid.org/0000-0002-8309-094X
Sven J van der LeeDepartment of Epidemiology, Erasmus MC, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0003-1606-8643
Jingyun YangRush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA.
Lisa R YanekGeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID http://orcid.org/0000-0001-7117-1075
Tom V LeeDepartment of Neurology, Baylor College of Medicine, Houston, TX, USA.
Shuo LiDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, USA.ORCID http://orcid.org/0000-0003-2331-2448
Yanhui HuDepartment of Genetics, Harvard Medical School, Boston, MA, USA.
Jia Yu KohSingapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.ORCID http://orcid.org/0000-0001-8772-8392
John D EicherDivision of Intramural Research, Population Sciences Branch, National Heart, Lung and Blood Institute, Framingham, MA, USA.
Sylvane DesrivièresMRC-SGDP Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.ORCID http://orcid.org/0000-0002-9120-7060
Alejandro Arias-VasquezDepartment of Cognitive Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
Ganesh ChauhanUniversity of Bordeaux, Inserm, Bordeaux Population Health Research Center, Team VINTAGE, UMR 1219, Bordeaux, France.
Lavinia AthanasiuCoE NORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Miguel E RenteríaDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID http://orcid.org/0000-0003-4626-7248
Sungeun KimCenter for Computational Biology and Bioinformatics, Indiana University School of Medicine, Indianapolis, IN, USA.
David HoehnMax Planck Institute of Psychiatry, Munich, Germany.
Nicola J ArmstrongMathematics and Statistics, Murdoch University, Perth, Western Australia, Australia.
Qiang ChenLieber Institute for Brain Development, Baltimore, MD, USA.
Avram J HolmesDepartment of Psychology, Yale University, New Haven, CT, USA.
Anouk den BraberDepartment of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Iwona KloszewskaMedical University of Lodz, Lodz, Poland.
Micael AnderssonDepartment of Integrative Medical Biology, Umeå University, Umeå, Sweden.
Thomas EspesethCoE NORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Oliver GrimmCentral Institute of Mental Health, Medical Faculty Mannheim, University Heidelberg, Mannheim, Germany.
Lucija AbramovicDepartment of Psychiatry, UMC Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
Saud AlhusainiThe Royal College of Surgeons in Ireland, Dublin, Ireland.
Yuri MilaneschiDepartment of Psychiatry, Amsterdam Neuroscience, VU University Medical Center, Amsterdam, the Netherlands.
Martina PapmeyerDivision of Psychiatry, Royal Edinburgh Hospital, University of Edinburgh, Edinburgh, UK.
Tomas AxelssonDepartment of Medical Sciences, Molecular Medicine and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Stefan EhrlichDepartment of Psychiatry, Massachusetts General Hospital, Boston, MA, USA.
Roberto Roiz-SantiañezDepartment of Psychiatry, University Hospital Marqués de Valdecilla, School of Medicine, University of Cantabria-IDIVAL, Santander, Spain.ORCID http://orcid.org/0000-0002-5176-2983
Bernd KraemerSection for Experimental Psychopathology and Neuroimaging, Department of General Psychiatry, Heidelberg University, Heidelberg, Germany.
Asta K HåbergDepartment of Neuroscience, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim, Norway.
Hannah J JonesCentre for Academic Mental Health, Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.ORCID http://orcid.org/0000-0002-5883-9605
G Bruce PikeDepartment of Radiology, University of Calgary, Calgary, Alberta, Canada.ORCID http://orcid.org/0000-0001-8924-683X
Dan J SteinDepartment of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa.ORCID http://orcid.org/0000-0001-7218-7810
Allison StevensMartinos Center for Biomedical Imaging, Massachusetts General Hospital, Charlestown, MA, USA.
Janita BraltenDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Meike W VernooijDepartment of Epidemiology, Erasmus MC, Rotterdam, the Netherlands.
Tamara B HarrisLaboratory of Epidemiology and Population Sciences, National Institute on Aging, Intramural Research Program, National Institutes of Health, Bethesda, MD, USA.
Irina FilippiINSERM, Research Unit 1000 'Neuroimaging and Psychiatry', Paris Saclay University and Paris Descartes University-DIGITEO Labs, Gif sur Yvette, France.
A Veronica WitteDepartment of Neurology, Max Planck Institute for Human Cognitive and Brain Sciences, Leipzig, Germany.
Tulio GuadalupeInternational Max Planck Research School for Language Sciences, Nijmegen, the Netherlands.
Katharina WittfeldDepartment of Psychiatry, University Medicine Greifswald, Greifswald, Germany.ORCID http://orcid.org/0000-0003-4383-5043
Thomas H MosleyDepartment of Medicine, University of Mississippi Medical Center, Jackson, MS, USA.
James T BeckerDepartment of Psychology, University of Pittsburgh, Pittsburgh, PA, USA.ORCID http://orcid.org/0000-0003-4425-4726
Nhat Trung DoanCoE NORMENT, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Saskia P HagenaarsDepartment of Psychology, Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh, UK.
Yasaman SabaResearch Unit-Genetic Epidemiology, Gottfried Schatz Research Centre for Cell Signaling, Metabolism and Aging, Molecular Biology and Biochemistry, Medical University of Graz, Graz, Austria.
Gabriel Cuellar-PartidaQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Najaf AminDepartment of Epidemiology, Erasmus MC, Rotterdam, the Netherlands.
Saima HilalDepartment of Pharmacology, National University of Singapore, Singapore, Singapore.
Kwangsik NhoCenter for Computational Biology and Bioinformatics, Indiana University School of Medicine, Indianapolis, IN, USA.
Nazanin Mirza-SchreiberMax Planck Institute of Psychiatry, Munich, Germany.ORCID http://orcid.org/0000-0003-0836-8267
Konstantinos ArfanakisRush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA.
Diane M BeckerGeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
David AmesAcademic Unit for Psychiatry of Old Age, University of Melbourne, Melbourne, Victoria, Australia.
Aaron L GoldmanLieber Institute for Brain Development, Baltimore, MD, USA.
Phil H LeeDepartment of Psychiatry, Massachusetts General Hospital, Boston, MA, USA.
Dorret I BoomsmaDepartment of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.ORCID http://orcid.org/0000-0002-7099-7972
Simon LovestoneDepartment of Psychiatry, University of Oxford, Oxford, UK.
Sudheer GiddaluruNORMENT, Department of Clinical Science, University of Bergen, Bergen, Norway.
Stephanie Le HellardNORMENT, Department of Clinical Science, University of Bergen, Bergen, Norway.
Manuel MattheisenCentre for integrated Sequencing, Aarhus University, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-8442-493X
Marc M BohlkenDepartment of Psychiatry, UMC Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
Dalia KasperaviciuteUCL Queen Square Institute of Neurology, London, UK.
Lianne SchmaalCentre for Youth Mental Health, The University of Melbourne, Melbourne, Victoria, Australia.
Stephen M LawrieDivision of Psychiatry, Royal Edinburgh Hospital, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-2444-5675
Ingrid AgartzCoE NORMENT, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Esther WaltonDivision of Psychological and Social Medicine and Developmental Neurosciences, Faculty of Medicine, TU Dresden, Dresden, Germany.
Diana Tordesillas-GutierrezCentro Investigación Biomédica en Red Salud Mental, Santander, Spain.
Gareth E DaviesAvera Institute for Human Genetics, Sioux Falls, SD, USA.
Jean ShinHospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0001-7353-5178
Jonathan C IpserDepartment of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa.
Louis N VinkeCenter for Systems Neuroscience, Boston University, Boston, MA, USA.
Martine HoogmanDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Tianye JiaMRC-SGDP Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.ORCID http://orcid.org/0000-0001-5399-2953
Ralph BurkhardtLIFE: The Leipzig Research Center for Civilization Diseases, University of Leipzig, Leipzig, Germany.ORCID http://orcid.org/0000-0003-1924-1202
Marieke KleinDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID http://orcid.org/0000-0001-8784-5679
Fabrice CrivelloNeurodegeneratives Diseases Institute, CNRS UMR 5293, Université de Bordeaux, Bordeaux, France.ORCID http://orcid.org/0000-0001-6950-984X
Deborah JanowitzDepartment of Psychiatry, University Medicine Greifswald, Greifswald, Germany.ORCID http://orcid.org/0000-0003-4324-9298
Owen CarmichaelPennington Biomedical Research Center, Baton Rouge, LA, USA.
Unn K HaukvikCoE NORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Benjamin S AribisalaBrain Research Imaging Centre, University of Edinburgh, Edinburgh, UK.
Helena SchmidtResearch Unit-Genetic Epidemiology, Gottfried Schatz Research Centre for Cell Signaling, Metabolism and Aging, Molecular Biology and Biochemistry, Medical University of Graz, Graz, Austria.
Lachlan T StrikeQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Ching-Yu ChengSingapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Shannon L RisacherCenter for Neuroimaging, Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN, USA.
Benno PützMax Planck Institute of Psychiatry, Munich, Germany.ORCID http://orcid.org/0000-0002-2208-209X
Debra A FleischmanRush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA.
Amelia A AssarehCentre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney, New South Wales, Australia.
Venkata S MattayLieber Institute for Brain Development, Baltimore, MD, USA.
Randy L BucknerDepartment of Psychiatry, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0001-6422-8037
Patrizia MecocciSection of Gerontology and Geriatrics, Department of Medicine, University of Perugia, Perugia, Italy.
Anders M DaleCenter for Multimodal Imaging and Genetics, University of California, San Diego, San Diego, CA, USA.
Sven CichonDivision of Medical Genetics, Department of Biomedicine, University of Basel, Basel, Switzerland.
Marco P BoksDepartment of Psychiatry, UMC Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.ORCID http://orcid.org/0000-0001-6163-7484
Mar MatarinUCL Queen Square Institute of Neurology, London, UK.
Brenda W J H PenninxDepartment of Psychiatry, Amsterdam Neuroscience, VU University Medical Center, Amsterdam, the Netherlands.
Vince D CalhounDepartment of ECE, University of New Mexico, Albuquerque, NM, USA.ORCID http://orcid.org/0000-0001-9058-0747
M Mallar ChakravartyCerebral Imaging Centre, Douglas Mental Health University Institute, Montreal, Québec, Canada.
Andre F MarquandDonders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands.
Christine MacareMRC-SGDP Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Shahrzad Kharabian MasoulehDepartment of Neurology, Max Planck Institute for Human Cognitive and Brain Sciences, Leipzig, Germany.
Jaap OosterlaanClinical Neuropsychology Section, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Philippe AmouyelLabEx DISTALZ-U1167, RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases, University of Lille, Lille, France.ORCID http://orcid.org/0000-0001-9088-234X
Katrin HegenscheidInstitute of Diagnostic Radiology and Neuroradiology, University Medicine Greifswald, Greifswald, Germany.
Jerome I RotterInstitute for Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute and Pediatrics at Harbor-UCLA Medical Center, Torrance, CA, USA.ORCID http://orcid.org/0000-0001-7191-1723
Andrew J SchorkInstitute of Biological Psychiatry, Mental Health Center Sct. Hans, Roskilde, Denmark.
David C M LiewaldDepartment of Psychology, Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-0544-7368
Greig I de ZubicarayFaculty of Health, Queensland University of Technology, Brisbane, Queensland, Australia.ORCID http://orcid.org/0000-0003-4506-0579
Tien Yin WongSingapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Li ShenDepartment of Biostatistics, Epidemiology and Informatics, University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-5443-0503
Philipp G SämannMax Planck Institute of Psychiatry, Munich, Germany.
Henry BrodatyCentre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0001-9487-6617
Joshua L RoffmanDepartment of Psychiatry, Massachusetts General Hospital, Boston, MA, USA.
Eco J C de GeusDepartment of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Magda Tsolaki1st Department of Neurology, AHEPA University Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Susanne ErkDivision of Mind and Brain Research, D, Corporate member of Freie Universität Berliepartment of Psychiatry and Psychotherapy, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.
Kristel R van EijkBrain Center Rudolf Magnus, Human Neurogenetics Unit, UMC Utrecht, Utrecht, the Netherlands.
Gianpiero L CavalleriDepartment of Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland, Dublin, Ireland.
Nic J A van der WeeDepartment of Psychiatry, Leiden University Medical Center, Leiden, the Netherlands.
Andrew M McIntoshDepartment of Psychology, Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-0198-4588
Randy L GollubDepartment of Psychiatry, Massachusetts General Hospital, Boston, MA, USA.
Kazima B BulayevaDepartment of Evolution and Genetics, Dagestan State University, Makhachkala, Russia.
Manon BernardHospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Jennifer S RichardsDepartment of Cognitive Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
Jayandra J HimaliThe Framingham Heart Study, Framingham, MA, USA.ORCID http://orcid.org/0000-0003-1391-9481
Markus LoefflerInstitute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
Nanda RommelseDepartment of Psychiatry, Radboud University Medical Center, Nijmegen, the Netherlands.
Wolfgang HoffmannGerman Center for Neurodegenerative Diseases, Greifswald, Germany.
Lars T WestlyeCoE NORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.ORCID http://orcid.org/0000-0001-8644-956X
Maria C Valdés HernándezBrain Research Imaging Centre, University of Edinburgh, Edinburgh, UK.
Narelle K HansellQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID http://orcid.org/0000-0002-8229-9741
Theo G M van ErpClinical Translational Neuroscience Laboratory, Department of Psychiatry and Human Behavior, University of California, Irvine, Irvine, CA, USA.ORCID http://orcid.org/0000-0002-2465-2797
Christiane WolfDepartment of Psychiatry, Psychosomatics and Psychotherapy, University of Wuerzburg, Wuerzburg, Germany.
John B J KwokBrain and Mind Centre, University of Sydney, Sydney, New South Wales, Australia.
Bruno VellasDepartment of Internal Medicine, INSERM U 1027, University of Toulouse, Toulouse, France.
Andreas HeinzDepartment of Psychiatry and Psychotherapy, Charité Universitätsmedizin Berlin, Berlin, Germany.
Loes M Olde LoohuisCenter for Neurobehavioral Genetics, University of California, Los Angeles, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0002-3327-7837
Norman DelantyThe Royal College of Surgeons in Ireland, Dublin, Ireland.
Beng-Choon HoDepartment of Psychiatry, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.ORCID http://orcid.org/0000-0003-3976-1555
Christopher R K ChingImaging Genetics Center, USC Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Elena ShumskayaDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Baljeet SinghImaging of Dementia and Aging Laboratory, Department of Neurology, University of California, Davis, Davis, CA, USA.
Albert HofmanDepartment of Epidemiology, Erasmus MC, Rotterdam, the Netherlands.
Dennis van der MeerCoE NORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.ORCID http://orcid.org/0000-0002-0466-386X
Georg HomuthInterfaculty Institute for Genetics and Functional Genomics, University Medicine Greifswald, Greifswald, Germany.
Bruce M PsatyCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.
Mark E BastinBrain Research Imaging Centre, University of Edinburgh, Edinburgh, UK.
Grant W MontgomeryInstitute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
Tatiana M ForoudIndiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis, IN, USA.
Simone ReppermundCentre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney, New South Wales, Australia.
Jouke-Jan HottengaDepartment of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Andrew SimmonsBiomedical Research Unit for Dementia, King's College London, London, UK.
Andreas Meyer-LindenbergCentral Institute of Mental Health, Medical Faculty Mannheim, University Heidelberg, Mannheim, Germany.ORCID http://orcid.org/0000-0001-5619-1123
Wiepke CahnDepartment of Psychiatry, UMC Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.ORCID http://orcid.org/0000-0002-0482-8759
Christopher D WhelanImaging Genetics Center, USC Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Marjolein M J van DonkelaarDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID http://orcid.org/0000-0002-9112-2307
Qiong YangDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, USA.ORCID http://orcid.org/0000-0002-3658-1375
Norbert HostenInstitute of Diagnostic Radiology and Neuroradiology, University Medicine Greifswald, Greifswald, Germany.
Robert C GreenHarvard Medical School, Boston, MA, USA.
Anbupalam ThalamuthuCentre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney, New South Wales, Australia.
Sebastian MohnkeDivision of Mind and Brain Research, D, Corporate member of Freie Universität Berliepartment of Psychiatry and Psychotherapy, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.
Hilleke E Hulshoff PolDepartment of Psychiatry, UMC Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
Honghuang LinThe Framingham Heart Study, Framingham, MA, USA.ORCID http://orcid.org/0000-0003-3043-3942
Clifford R JackDepartment of Radiology, Mayo Clinic, Rochester, MN, USA.
Peter R SchofieldNeuroscience Research Australia, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0003-2967-9662
Thomas W MühleisenInstitute for Neuroscience and Medicine: Structural and Functional Organisation of the Brain (INM-1), Research Centre Jülich, Jülich, Germany.ORCID http://orcid.org/0000-0002-6057-5952
Pauline MaillardImaging of Dementia and Aging Laboratory, Department of Neurology, University of California, Davis, Davis, CA, USA.
Steven G PotkinDepartment of Psychiatry and Human Behavior, University of California, Irvine, Irvine, CA, USA.
Wei WenCentre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney, New South Wales, Australia.
Evan FletcherImaging of Dementia and Aging Laboratory, Department of Neurology, University of California, Davis, Davis, CA, USA.
Arthur W TogaLaboratory of Neuro Imaging, USC Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA.
Oliver GruberSection for Experimental Psychopathology and Neuroimaging, Department of General Psychiatry, Heidelberg University, Heidelberg, Germany.
Matthew HuentelmanNeurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.
George Davey SmithMRC Integrative Epidemiology Unit, Bristol Medical School, University of Bristol, Bristol, UK.ORCID http://orcid.org/0000-0002-1407-8314
Lenore J LaunerLaboratory of Epidemiology and Population Sciences, National Institute on Aging, Intramural Research Program, National Institutes of Health, Bethesda, MD, USA.
Lars NybergDepartment of Integrative Medical Biology, Umeå University, Umeå, Sweden.
Erik G JönssonCoE NORMENT, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Benedicto Crespo-FacorroDepartment of Medicine, University Hospital Marqués de Valdecilla, School of Medicine, University of Cantabria-IDIVAL, Santander, Spain.
Nastassja KoenDepartment of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa.
Douglas N GreveMartinos Center for Biomedical Imaging, Massachusetts General Hospital, Charlestown, MA, USA.
André G UitterlindenDepartment of Epidemiology, Erasmus MC, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0002-7276-3387
Daniel R WeinbergerLieber Institute for Brain Development, Baltimore, MD, USA.ORCID http://orcid.org/0000-0003-2409-2969
Vidar M SteenNORMENT, Department of Clinical Science, University of Bergen, Bergen, Norway.
Iryna O FedkoDepartment of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Nynke A GroenewoldDepartment of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa.
Wiro J NiessenDepartment of Radiology and Nuclear Medicine, Erasmus MC, Rotterdam, the Netherlands.
Roberto ToroInstitut Pasteur, Paris, France.
Christophe TzourioDepartment of Neurology, CHU de Bordeaux, Bordeaux, France.
William T LongstrethDepartment of Epidemiology, University of Washington, Seattle, WA, USA.
M Kamran IkramDepartment of Epidemiology, Erasmus MC, Rotterdam, the Netherlands.
Jordan W SmollerDepartment of Psychiatry, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-0381-6334
Marie-Jose van TolCognitive Neuroscience Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Jessika E SussmannDivision of Psychiatry, Royal Edinburgh Hospital, University of Edinburgh, Edinburgh, UK.
Tomas PausBloorview Research Institute, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.
Hervé LemaîtreINSERM, Research Unit 1000 'Neuroimaging and Psychiatry', Paris Saclay University and Paris Descartes University-DIGITEO Labs, Gif sur Yvette, France.
Matthias L SchroeterLIFE: The Leipzig Research Center for Civilization Diseases, University of Leipzig, Leipzig, Germany.
Bernard MazoyerNeurodegeneratives Diseases Institute, CNRS UMR 5293, Université de Bordeaux, Bordeaux, France.ORCID http://orcid.org/0000-0003-0970-2837
Ole A AndreassenCoE NORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.ORCID http://orcid.org/0000-0002-4461-3568
Florian HolsboerMax Planck Institute of Psychiatry, Munich, Germany.
Chantal DepondtDepartment of Neurology, Hopital Erasme, Universite Libre de Bruxelles, Brussels, Belgium.
Dick J VeltmanDepartment of Psychiatry, Amsterdam Neuroscience, VU University Medical Center, Amsterdam, the Netherlands.
Jessica A TurnerThe Mind Research Network and LBERI, Albuquerque, NM, USA.ORCID http://orcid.org/0000-0003-0076-8434
Zdenka PausovaHospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Gunter SchumannMRC-SGDP Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.ORCID http://orcid.org/0000-0002-7740-6469
Daan van RooijDepartment of Cognitive Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
Srdjan DjurovicNORMENT, Department of Clinical Science, University of Bergen, Bergen, Norway.ORCID http://orcid.org/0000-0002-8140-8061
Ian J DearyDepartment of Psychology, Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh, UK.
Katie L McMahonFaculty of Health, Queensland University of Technology, Brisbane, Queensland, Australia.ORCID http://orcid.org/0000-0002-6357-615X
Bertram Müller-MyhsokMax Planck Institute of Psychiatry, Munich, Germany.
Rachel M BrouwerDepartment of Psychiatry, UMC Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
Hilkka SoininenInstitute of Clinical Medicine-Neurology, University of Eastern Finland, Kuopio, Finland.
Massimo PandolfoDepartment of Neurology, Hopital Erasme, Universite Libre de Bruxelles, Brussels, Belgium.
Thomas H WassinkDepartment of Psychiatry, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
Joshua W CheungImaging Genetics Center, USC Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0002-3976-5073
Thomas WolfersDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Jean-Luc MartinotINSERM, Research Unit 1000 'Neuroimaging and Psychiatry', Paris Saclay University and Paris Descartes University-DIGITEO Labs, Gif sur Yvette, France.
Marcel P ZwiersDonders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands.
Matthias NauckInstitute of Clinical Chemistry and Laboratory Medicine, University Medicine Greifswald, Greifswald, Germany.
Ingrid MelleCoE NORMENT, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Nicholas G MartinQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID http://orcid.org/0000-0003-4069-8020
Ryota KanaiDepartment of Neuroinformatics, Araya, Tokyo, Japan.
Eric WestmanDepartment of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.ORCID http://orcid.org/0000-0002-3115-2977
René S KahnDepartment of Psychiatry, UMC Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
Sanjay M SisodiyaUCL Queen Square Institute of Neurology, London, UK.
Tonya WhiteDepartment of Radiology and Nuclear Medicine, Erasmus MC, Rotterdam, the Netherlands.
Arvin SaremiImaging Genetics Center, USC Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Hans van BokhovenDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Han G BrunnerDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Henry VölzkeInstitute for Community Medicine, University Medicine Greifswald, Greifswald, Germany.
Margaret J WrightQueensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia.ORCID http://orcid.org/0000-0001-7133-4970
Dennis van 't EntDepartment of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Markus M NöthenInstitute of Human Genetics, University of Bonn, Bonn, Germany.
Roel A OphoffCenter for Neurobehavioral Genetics, University of California, Los Angeles, Los Angeles, CA, USA.
Jan K BuitelaarDepartment of Cognitive Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID http://orcid.org/0000-0001-8288-7757
Guillén FernándezDepartment of Cognitive Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
Perminder S SachdevCentre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0002-9595-3220
Marcella RietschelCentral Institute of Mental Health, Medical Faculty Mannheim, University Heidelberg, Mannheim, Germany.ORCID http://orcid.org/0000-0002-5236-6149
Neeltje E M van HarenDepartment of Psychiatry, UMC Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
Simon E FisherDonders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands.ORCID http://orcid.org/0000-0002-3132-1996
Alexa S BeiserThe Framingham Heart Study, Framingham, MA, USA.
Clyde FrancksDonders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands.
Andrew J SaykinCenter for Neuroimaging, Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN, USA.ORCID http://orcid.org/0000-0002-1376-8532
Karen A MatherCentre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney, New South Wales, Australia.
Nina Romanczuk-SeiferthDepartment of Psychiatry and Psychotherapy, Charité Universitätsmedizin Berlin, Berlin, Germany.ORCID http://orcid.org/0000-0002-6931-269X
Catharina A HartmanUniversity Medical Center Groningen, Department of Psychiatry, University of Groningen, Groningen, the Netherlands.
Anita L DeStefanoThe Framingham Heart Study, Framingham, MA, USA.
Dirk J HeslenfeldDepartment of Psychology, VU University Amsterdam, Amsterdam, the Netherlands.
Michael W WeinerCenter for Imaging of Neurodegenerative Disease, San Francisco VA Medical Center, University of California, San Francisco, San Francisco, CA, USA.
Henrik WalterDivision of Mind and Brain Research, D, Corporate member of Freie Universität Berliepartment of Psychiatry and Psychotherapy, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.ORCID http://orcid.org/0000-0002-9403-6121
Pieter J HoekstraUniversity Medical Center Groningen, Department of Psychiatry, University of Groningen, Groningen, the Netherlands.
Paul A NyquistGeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Barbara FrankeDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID http://orcid.org/0000-0003-4375-6572
David A BennettRush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA.
Hans J GrabeDepartment of Psychiatry, University Medicine Greifswald, Greifswald, Germany.ORCID http://orcid.org/0000-0003-3684-4208
Andrew D JohnsonDivision of Intramural Research, Population Sciences Branch, National Heart, Lung and Blood Institute, Framingham, MA, USA.
Christopher ChenDepartment of Pharmacology, National University of Singapore, Singapore, Singapore.
Cornelia M van DuijnDepartment of Epidemiology, Erasmus MC, Rotterdam, the Netherlands.
Oscar L LopezDepartment of Neurology, University of Pittsburgh, Pittsburgh, PA, USA.
Myriam FornageThe Brown Foundation Institute of Molecular Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA.
Joanna M WardlawDepartment of Psychology, Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-9812-6642
Reinhold SchmidtClinical Division of Neurogeriatrics, Department of Neurology, Medical University of Graz, Graz, Austria.
Charles DeCarliDepartment of Neurology, Center for Neuroscience, University of California, Davis, Sacramento, CA, USA.
Philip L De JagerCell Circuits Program, Broad Institute, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-8057-2505
Arno VillringerDepartment of Neurology, Max Planck Institute for Human Cognitive and Brain Sciences, Leipzig, Germany.
Stéphanie DebetteDepartment of Neurology, Boston University School of Medicine, Boston, MA, USA.
Vilmundur GudnasonFaculty of Medicine, University of Iceland, Reykjavík, Iceland.ORCID http://orcid.org/0000-0001-5696-0084
Sarah E MedlandQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID http://orcid.org/0000-0003-1382-380X
Joshua M ShulmanDepartment of Neurology, Baylor College of Medicine, Houston, TX, USA.
Paul M ThompsonImaging Genetics Center, USC Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Sudha SeshadriThe Framingham Heart Study, Framingham, MA, USA.
M Arfan IkramDepartment of Epidemiology, Erasmus MC, Rotterdam, the Netherlands. m.a.ikram@erasmusmc.nl.ORCID http://orcid.org/0000-0003-0372-8585
Funding
Tracking & Evaluation CoreU54GM104940 · NIGMS · LSU PENNINGTON BIOMEDICAL RESEARCH CTR · PI JUDD E SHELLITO · 2012 to 2026
$69.1MSUPPLEMENT TO RUSH ALZHEIMERS DISEASE CENTER COREP30AG010161 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI LEURGANS, SUE E. · 1991 to 2020
$49.1MEPIDEMIOLOGY OF NEURAL RESERVE AND NEUROBIOLOGY IN AGINGR01AG017917 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI BENNETT, DAVID ALAN · 2001 to 2023
$43.3MUC Davis Alzheimer's Disease Core CenterP30AG010129 · NIA · UNIVERSITY OF CALIFORNIA DAVIS · PI MEYER, OANH L · 1991 to 2020
$28.3MSouth Texas Alzheimer's Disease Research CenterP30AG066546 · NIA · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI Mohamad Habes · 2021 to 2026
$24.0MPRECURSORS OF STROKE INCIDENCE AND PROGNOSISR01NS017950 · NINDS · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI Hugo Javier Aparicio, Jose Rafael Romero · 1985 to 2026
$22.9MRISK FACTORS, PATHOLOGY, AND CLINICAL EXPRESSIONS OF ADR01AG015819 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI BENNETT, DAVID ALAN · 1998 to 2024
$21.4MNRI Build-out: Advancing Translational Brain ResearchC06RR029965 · NCRR · BAYLOR COLLEGE OF MEDICINE · PI ZOGHBI, HUDA Y · 2010 to 2010
$14.9MTemporal Trends, Novel Imaging and Molecular Characterization of Preclinical and Clinical Alzheimer's Disease in the Framingham CohortsR01AG054076 · NIA · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI DECARLI, CHARLES, SESHADRI, SUDHA · 2016 to 2020
$12.3MInstitute for Clinical and Translational ScienceUL1TR000153 · NCATS · UNIVERSITY OF CALIFORNIA-IRVINE · PI COOPER, DAN M · 2012 to 2015
$12.1MCHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5MRare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9MBiotechnology and Biological Sciences Research Council BB/F019394/1Medical Research Council G1001245Medical Research Council MC_PC_17228Medical Research Council MC_QA137853Medical Research Council MC_UU_00011/1Medical Research Council MR/M013111/1Medical Research Council MR/N027558/1Medical Research Council MR/S015132/1NCATS NIH HHS UL1 TR000153NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL120393NHLBI NIH HHS U01 HL120393NHLBI NIH HHS U01 HL130114NIA NIH HHS P30 AG010129NIA NIH HHS P30 AG010161NIA NIH HHS P30 AG066546NIA NIH HHS R01 AG015819NIA NIH HHS R01 AG017917NIA NIH HHS R01 AG054076NIA NIH HHS R03 AG054936NIA NIH HHS T32 AG058507NIA NIH HHS U01 AG049505NIA NIH HHS U01 AG052409NIGMS NIH HHS U54 GM104940NIMH NIH HHS R00 MH101367NIMH NIH HHS R01 MH119243NINDS NIH HHS R01 NS017950NINDS NIH HHS R01 NS087541NINDS NIH HHS UH3 NS100605
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.
Indexed as
Genetic VariationGenome-Wide Association StudyAdultAgedAnimalsBrainCohort StudiesDrosophila melanogasterHumansMagnetic Resonance ImagingMiddle AgedNeurodevelopmental DisordersOrgan Size
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