Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects
Status PubMed-not-MEDLINE Language English Country United States Media electronic
Document type Journal Article, Preprint
Grant support
R01 MH124851
NIMH NIH HHS - United States
R56 MH133899
NIMH NIH HHS - United States
R01 DA054869
NIDA NIH HHS - United States
R01 MH124847
NIMH NIH HHS - United States
R01 MH124873
NIMH NIH HHS - United States
U01 MH109514
NIMH NIH HHS - United States
U01 MH119739
NIMH NIH HHS - United States
R01 MH106595
NIMH NIH HHS - United States
U01 MH119690
NIMH NIH HHS - United States
R01 MH124875
NIMH NIH HHS - United States
R01 MH124871
NIMH NIH HHS - United States
R01 MH124839
NIMH NIH HHS - United States
U01 MH094432
NIMH NIH HHS - United States
U01 MH119746
NIMH NIH HHS - United States
PubMed
40791676
PubMed Central
PMC12338884
DOI
10.1101/2025.07.11.25331381
PII: 2025.07.11.25331381
Knihovny.cz E-resources
- Publication type
- Journal Article MeSH
- Preprint MeSH
Psychiatric conditions share common genes, but mechanisms that differentiate diagnoses remain unclear. We present a multidimensional framework for functional analysis of rare copy number variants (CNVs) across 6 diagnostic categories, including schizophrenia (SCZ), autism (ASD), bipolar disorder (BD), depression (MDD), PTSD, and ADHD (N = 574,965). Using gene-set burden analysis (GSBA), we tested duplication (DUP) and deletion (DEL) burden across 2,645 functional gene sets defined by the intersections of pathways, cell types, and cortical regions. While diagnoses converge on shared pathways, mixed-effects modeling revealed divergence of pathway effects by cell type, brain region, and gene dosage. Factor analysis identified latent dimensions aligned with clinical axes. A primary factor (F1) captured reciprocal dose-dependent effects of DUP and DEL in SCZ reflecting positive and negative effects in excitatory versus inhibitory neurons and association versus sensory cortex. SCZ and ASD were both strongly aligned with F1 but with opposing directionalities. Orthogonal factors highlighted neuronal versus non-neuronal effects in mood disorders (F2) and differential spatial distributions of DEL effects in ADHD and MDD (F3). High-impact CNVs at 16p11.2 and 22q11.2 were enriched for combinations of cell-type-specific genes involved in pathways consistent with our broader findings. These results reveal molecular and cellular mechanisms that are broadly shared across psychiatric traits but differ between diagnostic categories in context and directionality.
Beyster Center for Psychiatric Genomics University of California San Diego La Jolla CA USA
Biomedical Network Research Centre on Mental Health Madrid Spain
Boston Children's Hospital Division of Adolescent and Young Adult Medicine Boston MA USA
Brain and Mental Health Program QIMR Berghofer Institute of Medical Research Brisbane Australia
Center for Applied Genomics Children's Hospital of Philadelphia Philadelphia PA USA
Center for Mind Brain and Behavior University of Marburg Marburg Germany
Centre for Clinical Brain Sciences University of Edinburgh Edinburgh UK
Centre for Human Genetics University of Marburg Marburg Germany
Centre for Precision Psychiatry Oslo University Hospital and University of Oslo Oslo Norway
Centre for Precision Psychiatry University of Oslo Oslo Norway
Centre Hospitalier Universitaire Sainte Justine Research Center Montreal QC Canada
Cheshire and Wirral Partnership NHS Foundation Trust Winsford Cheshire UK
Cheshire and Wirral Partnership NHS Trust Ellesmere Port Cheshire UK
Childhood Genetic Disease Laboratory INSERM UMR S933 Trousseau University Hospital Paris France
Chronic Diseases Research Centre Lisbon Institute of Global Mental Health Lisbon Portugal
CHU Sainte Justine Azrieli Research Center Université de Montréal Montreal QC Canada
CNRS UMR 7222 Institute for Intelligent Systems and Robotics Sorbonne University Paris France
Cochin University Hospital Paris Cité University Paris France
College of Pharmacy University of Manitoba Winnipeg MB Canada
Data Science and Biometrics Research and Development Pierre Fabre Group Toulouse France
Department Genes and Environment Max Planck Institute of Psychiatry Munich Germany
Department of Anesthesiology UNC Institute for Trauma Recovery Chapel Hill NC USA
Department of Biochemistry and Molecular Biology Indiana University Indianapolis IN USA
Department of Biochemistry Universidade Federal de São Paulo São Paulo Brazil
Department of Biomedicine University of Basel Basel Switzerland
Department of Biomedicine University of Bergen Bergen Norway
Department of Cellular and Molecular Medicine University of California San Diego La Jolla CA USA
Department of Clinical Science Umeå University Umeå Sweden
Department of Clinical Science University of Bergen Bergen Norway
Department of Emergency Medicine UNC Institute for Trauma Recovery Chapel Hill NC USA
Department of Epidemiology Columbia University Robert N Butler Columbia Aging Center New York NY US
Department of Epidemiology Harvard T H Chan School of Public Health Boston MA USA
Department of Genetic Epidemiology Institute of Human Genetics University of Münster Münster Germany
Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York NY USA
Department of Genetics Rutgers University Piscataway NJ USA
Department of Human Genetics Radboud University Medical Center Nijmegen The Netherlands
Department of Medical and Molecular Genetics Indiana University Indianapolis IN USA
Department of Medical Epidemiology and Biostatistics Karolinska Institutet Stockholm Sweden
Department of Medical Epidemiology and Biostatistics Karolinska Institutet Sweden
Department of Medical Genetics Haukeland University Hospital Bergen Norway
Department of Medical Genetics Oslo University Hospital and University of Oslo Oslo Norway
Department of Medical Genetics Oslo University Hospital Oslo Norway
Department of Medicine Division of Genetic Medicine Vanderbilt University Nashville TN USA
Department of Mental Health Hospital Universitari Vall d'Hebron Barcelona Spain
Department of Mental Health University of Aberdeen Royal Cornhill Hospital Aberdeen UK
Department of Molecular Genetics University of Toronto Toronto ON Canada
Department of Nursing Faculty of Health Sciences University of Granada Granada Spain
Department of Nutrition University of North Carolina at Chapel Hill Chapel Hill NC USA
Department of Pediatrics Harvard Medical School Boston MA USA
Department of Pediatrics Perelman School of Medicine University of Pennsylvania Philadelphia PA USA
Department of Pediatrics Université de Montréal Montreal QC Canada
Department of Psychiatric Genetics Poznan University of Medical Sciences Poznan Poland
Department of Psychiatric Research Diakonhjemmet Hospital Oslo Norway
Department of Psychiatry and Behavioral Neuroscience University of Chicago
Department of Psychiatry and Behavioral Neuroscience University of Chicago Chicago IL USA
Department of Psychiatry and Behavioral Sciences Emory University Atlanta GA USA
Department of Psychiatry and Behavioral Sciences Stanford University Stanford CA USA
Department of Psychiatry and Human Behavior University of California Irvine CA USA
Department of Psychiatry and Neuroscience Institute University of Cape Town Cape Town South Africa
Department of Psychiatry and Psychology Mayo Clinic Rochester MN US
Department of Psychiatry and Psychology Mayo Clinic Rochester MN USA
Department of Psychiatry and Psychotherapy LMU University Hospital LMU Munich Munich Germany
Department of Psychiatry and Psychotherapy Medical University of Vienna Austria
Department of Psychiatry and Psychotherapy University Medicine Greifswald Greifswald Germany
Department of Psychiatry and Psychotherapy University of Freiburg Freiburg Germany
Department of Psychiatry and Psychotherapy University of Marburg Marburg Germany
Department of Psychiatry Dalhousie University Halifax NS Canada
Department of Psychiatry Fujita Health University School of Medicine Toyoake Aichi Japan
Department of Psychiatry Harvard Medical School Boston MA USA
Department of Psychiatry Icahn School of Medicine at Mount Sinai New York NY USA
Department of Psychiatry Monash University Melbourne Australia
Department of Psychiatry Rutgers University Piscataway NJ USA
Department of Psychiatry Sørlandet hospital Arendal Kristiansand Norway
Department of Psychiatry Trinity College Dublin Dublin Ireland
Department of Psychiatry University Hospital Faculty of Medicine University of Bonn Bonn Germany
Department of Psychiatry University of Basel Basel Switzerland
Department of Psychiatry University of California San Diego La Jolla CA USA
Department of Psychiatry University of Melbourne Melbourne Australia
Department of Psychiatry University of Münster Münster Germany
Department of Psychiatry University of North Carolina at Chapel Hill Chapel Hill NC USA
Department of Psychiatry University of Oxford Warneford Hospital Oxford UK
Department of Psychiatry University of Pennsylvania Philadelphia PA USA
Department of Psychiatry University of Queensland Brisbane Australia
Department of Psychiatry University of Toronto Toronto ON Canada
Department of Psychological Sciences Case Western Reserve University Cleveland OH USA
Department of Psychological Sciences Kent State University Kent OH USA
Department of Psychology Harvard University Boston MA USA
Department of Psychology Northern Illinois University DeKalb IL USA
Department of Psychology University of Washington Seattle WA USA
Department of Quantitative Health Sciences Mayo Clinic Rochester MN USA
Department of Research and Outcomes Skyland Trail Atlanta GA USA
Department of Social and Behavioral Sciences Harvard T H Chan School of Public Health Boston MA USA
Department of Translational Research in Psychiatry Max Planck Institute of Psychiatry Munich Germany
Departments of Genetics and Psychiatry University of North Carolina Chapel Hill NC USA
Division of Cancer Epidemiology and Genetics National Cancer Institute Rockville MD USA
Division of Depression and Anxiety McLean Hospital Belmont MA US
Division of Human Genetics Children's Hospital of Philadelphia Philadelphia PA USA
Division of Mental Health and Addiction Oslo University Hospital Oslo Norway
Division of Mental Health and Substance abuse Diakonhjemmet Hospital Oslo Norway
Division of Psychiatry Centre for Clinical Brain Sciences The University of Edinburgh Edinburgh UK
Division of Psychiatry University College London London UK
Division of Psychiatry University of Edinburgh Edinburgh UK
Estonian Genome Centre Institute of Genomics University of Tartu Tartu Estonia
FSBEI HE Bashkir State Medical University of Health Ministry of Russia Russia
FSBEI HE Kemerovo State University Russia
FSBEI HE Russian University of Medicine of the Ministry of Health of Russia Russia
Genomics Program University of South Florida College of Public Health Tampa FL USA
German Center for Mental Health Munich Germany
German Center for Mental Health Partner Site Mannheim Heidelberg Ulm Germany
HMNC Holding GmbH Munich Germany
Human Genetics Institute of New Jersey Rutgers University Piscataway NJ USA
Icahn School of Medicine at Mount Sinai New York NY USA
INSERM Unit 894 Institute of Psychiatry And Neuroscience of Paris Paris France
Institute for Community Medicine University Medicine Greifswald Greifswald Germany
Institute for Genomic Medicine University of California San Diego La Jolla CA USA
Institute for Health Informatics University College London London UK
Institute for Molecular Bioscience The University of Queensland St Lucia Queensland Australia
Institute for Translational Psychiatry University of Münster Münster Germany
Institute of Clinical Medicine University of Oslo Oslo Norway
Institute of Epidemiology and Social Medicine University of Münster Münster Germany
Institute of Medical Genetics and Pathology University Hospital Basel Basel Switzerland
Institute of Medical Science University of Toronto Toronto ON Canada
Institute of Neuroscience and Physiology University of Gothenburg Gothenburg Sweden
Institute of Psychiatric Phenomics and Genomics LMU University Hospital LMU Munich Munich Germany
Janssen Research and Development LLC
KG Jebsen Centre for Neurodevelopmental disorders University of Oslo Oslo Norway
King's College London London UK
Laboratory of Integrative Neuroscience Universidade Federal de São Paulo São Paulo Brazil
Max Planck Institute of Psychiatry Munich Germany
McLaughlin Centre University of Toronto Toronto ON Canada
McLean Hospital Belmont MA USA
McLean Hospital Center of Excellence in Depression and Anxiety Disorders Belmont MA USA
Molecular Medicine Program The Hospital for Sick Children Toronto ON Canada
MRC Human Genetics Unit Institute of Genetics and Molecular Medicine Edinburgh UK
National Institute of Mental Health Klecany Czech Republic
Net bio Inc Los Angeles CA USA
Neuroscience Research Australia Randwick New South Wales Australia
Neuroscience Research Australia Sydney New South Wales Australia
Neurosciences and Mental Health The Hospital for Sick Children Toronto ON Canada
New York State Psychiatric Institute New York NY USA
New York University Grossman School of Medicine New York City NY USA
Oxford NHS Foundation Trust Oxford UK
Program in Genetics and Genome Biology The Hospital for Sick Children Toronto ON Canada
Psychiatric Genetics Research Unit Alexandru Obregia Clinical Psychiatric Hospital Bucharest Romania
Psychological Medicine University of Worcester Worcester UK
Queensland Centre for Schizophrenia Research Wolston Park Hospital Wacol Queensland Australia
Queensland University of Technology School of Clinical Sciences Kelvin Grove Queensland Australia
Research Psychiatry Veterans Affairs San Diego Healthcare System San Diego CA USA
SAMRC Genomics of Brain Disorders Research Unit Stellenbosch University Cape Town Western Cape ZA
SBI MD Central Clinical Psychiatric Hospital F Usoltseva
School of Biomedical Sciences and Pharmacy University of Newcastle Callaghan NSW Australia
School of Biomedical Sciences University of New South Wales Sydney New South Wales Australia
School of Medicine University of California Los Angeles Los Angeles CA USA
School of Psychiatry University of New South Wales Sydney New South Wales Australia
School of Psychology The University of Queensland Brisbane Queensland Australia
School of Public Health University of California San Diego La Jolla CA USA
Section of Molecular Genetics of Mental Disorders LVR University Clinic Essen Essen Germany
Sheppard Pratt Health System Baltimore MD USA
Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA
Stanley Division of Developmental Neurovirology Johns Hopkins School of Medicine Baltimore MD USA
Stark Neurosciences Research Institute
Tahoe Therapeutics South San Francisco CA USA
The Centre for Applied Genomics The Hospital for Sick Children Toronto ON Canada
The Flore Institute of Neuroscience and Mental Health Melbourne Australia
Universidade Nova de Lisboa Nova Medical School Lisboa Portugal
University College London London UK
University of Peshawar Peshawar Pakistan
University of the Sunshine Coast The Chancellory Sippy Downs Queensland Australia
Veterans Affairs San Diego Healthcare System Psychiatry Service San Diego CA USA
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Wu Tsai Neurosciences Institute Stanford University Stanford CA USA
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