ArticlebioRxiv : the preprint server for biology2026
Analysis of Rare Coding Variation Identifies New Genetic Contributors to Schizophrenia.
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Article in bioRxiv : the preprint server for biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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109 authors.
Julia M SealockAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
Connor DowdAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
Calwing LiaoAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
Robert YeStanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Daniel HowriganAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
F Kyle SatterstromAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
Chiara AuwerxProgram in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Soyeon KimStanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Cong HuaiBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China.
Lin HeBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China.
Melkam AlemayehuAddis Ababa University, Addis Ababa, Ethiopia.
Stella GichuruAga Khan University Medical College, East Africa, Nairobi, Kenya.
Rehema M MwendeBrain and Mind Institute, Aga Khan University, Nairobi, Kenya.
Charles R J C NewtonKenya Medical Research Institute (KEMRI), Nairobi, Kenya.
Nastassja KoenDepartment of Psychiatry & Neuroscience Institute, University of Cape Town, Cape Town, South Africa.
Zukiswa ZingelaNelson Mandela University, Gqeberha, South Africa.
Joseph KyebuzibwaMakerere University, Kampala, Uganda.
Anne StevensonStanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Arsalan HassanAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
Kai WangDepartment of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Makoto AraiDepartment of Psychiatry and Behavioral Sciences, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan.
Yasue HoriuchiShizuoka Graduate University of Public Health, Shizuoka, Japan.
Masanari ItokawaDepartment of Psychiatry and Behavioral Sciences, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan.
Nora Ayola SerranoClínica Psiquiátrica CEMIC, Cartagena, Bolívar, Colombia.
Carrie E BeardenCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.
Sintia I BelangeroDepartment of Psychiatry, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Saulo G Castor AlbuquerqueHospital de Saúde Mental Professor Frota Pinto, Fortaleza, Ceará, Brazil.
Nicolas CrossleyResearch Group in Psychiatry, Department of Psychiatry, School of Medicine, Universidad de Antioquia, Medellín, Antioquia, Colombia.
Andre L de Souza RodriguesGenetics and Molecular Biology Graduate Program, Federal University of Pará, Belém, Pará, Brazil.
Ana M Diaz-ZuluagaCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.
Mateus M DinizPax Clínica Instituto de Psiquiatria, Aparecida de Goiânia, Goiás, Brazil.
Thiago H FreitasDepartment of Psychiatry, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Ary GadelhaDepartment of Psychiatry, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Juliana Gomez-MakhinsonDepartment of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
Nayana HolandaNeuropsychopharmacology Laboratory, Drug Research and Development Center, Department of Physiology and Pharmacology, Federal University of Ceará, Fortaleza, Ceará, Brazil.
Alex KopelowiczDepartment of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
Pedro G LorencettiDepartment of Psychiatry, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Lucas C QuarantiniDepartment of Neurology and Psychiatry, Faculdade de Medicina da Bahia, Universidade Federal da Bahia, Salvador, Bahia, Brazil.
Ana M Ramirez-DiazCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.
Victor I ReusDepartment of Psychiatry and Behavioral Sciences, School of Medicine, University of California, San Francisco, San Francisco, California, USA.
Marcos L SantoroInterdisciplinary Laboratory of Clinical Neurosciences (LINC), Department of Psychiatry, Paulista School of Medicine, Federal University of São Paulo, São Paulo, SP, Brazil.
Terri TeshibaCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.
Carolina ZieboldDepartment of Psychiatry, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Carlo Esteban Sotelo-RamirezInstituto Nacional de Psiquiatría Ramón de la Fuente Muñiz, Mexico City, Mexico.
Marco Antonio Sanabrais-JiménezInstituto Nacional de Psiquiatría Ramón de la Fuente Muñiz, Mexico City, Mexico.
Eric HahnDepartment of Psychiatry and Psychotherapy, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Van Phi NguyenHanoi Medical University, Hanoi, Vietnam.
Penelope A LindQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Jennifer ForsythDepartment of Psychology, University of Washington, Seattle, Washington, USA.
Adeniran OkewoleDepartment of Psychiatry, University of Cambridge, Cambridge, UK.
Rodney C P GoUniversity of Alabama at Birmingham, Birmingham, Alabama, USA.
Raquel GurUniversity of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Ruben GurUniversity of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Nicholas CraddockCardiff University, Cardiff, Wales, UK.
Aarno PalotieAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
Eija HämäläinenInstitute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki, Helsinki, Finland.
Olli PietiläinenNeuroscience Center, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.
Stephen J GlattUpstate Medical University, Syracuse, New York, USA.
Christina HultmanKarolinska Institutet, Stockholm, Sweden.
Celso Arango LópezHospital Universitario La Paz, IdiPAZ, Madrid, Spain.
Andrew McQuillinUniversity College London, London, UK.
Nick BassDivision of Psychiatry, University College London, London, UK.
Ann E PulverSchool of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
David St ClairUniversity of Aberdeen, Aberdeen, UK.
Bruce CohenMcLean Hospital, Harvard Medical School, Belmont, Massachusetts, USA.
Douglas H BlackwoodUniversity of Edinburgh, Edinburgh, UK.
Andrew McIntoshUniversity of Edinburgh, Edinburgh, UK.
Tõnu EskoUniversity of Tartu, Tartu, Estonia.
Elizabeth KarlsonHarvard Medical School, Mass General Brigham (MGB), Brigham and Women's Hospital, Boston, Massachusetts, USA.
Aiden P CorvinTrinity College Dublin, Dublin, Ireland.
Derek W MorrisUniversity of Galway, Galway, Ireland.
Dara ManoachMass General Research Institute, Harvard Medical School, Boston, Massachusetts, USA.
Mikael LandenSection of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden.
SCHEMA Consortium
Michael BoehnkeUniversity of Michigan School of Public Health, Ann Arbor, Michigan, USA.
Anders D BørglumDepartment of Biomedicine, Aarhus University, Aarhus, Denmark.
Claire ChurchhouseAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
David CurtisUCL Genetics Institute, University College London, London, UK.
Michael C O'DonovanMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, Wales, UK.
Michael J OwenMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, Wales, UK.
Elliott ReesMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, Wales, UK.
Patrick F SullivanKarolinska Institutet, Stockholm, Sweden.
Marquis P VawterUniversity of California, Irvine, Irvine, California, USA.
James T R WaltersMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, Wales, UK.
Laura ScottUniversity of Michigan School of Public Health, Ann Arbor, Michigan, USA.
Sarah E MedlandQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Van Tuan NguyenHanoi Medical University, Hanoi, Vietnam.
Thi Minh Tam TaHanoi Medical University, Hanoi, Vietnam.
Beatriz CamarenaInstituto Nacional de Psiquiatría Ramón de la Fuente Muñiz, Mexico City, Mexico.
Nelson FreimerCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.
Carlos Lopez-JaramilloResearch Group in Psychiatry, Department of Psychiatry, School of Medicine, Universidad de Antioquia, Medellín, Antioquia, Colombia.
Loes Olde LoohuisCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.
Roel A OphoffCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.
Akira SawaJohns Hopkins Schizophrenia Center and Johns Hopkins iMIND, Department of Psychiatry, Neuroscience, Biomedical Engineering, Pharmacology, Genetic Medicine, and Mental Health, Johns Hopkins University School of Medicine and Bloomberg School of Public Health, Baltimore, Maryland, USA.
Carlos N PatoRutgers University, New Brunswick, New Jersey, USA.
Michele T PatoRutgers University, New Brunswick, New Jersey, USA.
Muhammad AyubDivision of Psychiatry, University College London, London, UK.
James A KnowlesRutgers University, New Brunswick, New Jersey, USA.
Rocky StroudStanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Lukoye AtwoliBrain and Mind Institute, Aga Khan University, Nairobi, Kenya.
Akena DickensMakerere University, Kampala, Uganda.
Symon M KariukiAfrican Population and Health Research Center, Nairobi, Kenya.
Karestan C KoenenStanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Dan J SteinSouth African Medical Research Council (SAMRC) Unit on Risk & Resilience in Mental Disorders, Department of Psychiatry & Neuroscience Institute, University of Cape Town, Cape Town, South Africa.
Solomon TeferraAddis Ababa University, Addis Ababa, Ethiopia.
Shengying QinBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China.
Mark J DalyAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
Hailiang HuangAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
Benjamin M NealeAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
Funding
1/4 Powering Genetic Discovery for Severe Mental Illness in Latin American and African AncestriesU01MH125047 · NIMH · BROAD INSTITUTE, INC. · PI MARTIN, ALICIA, NEALE, BENJAMIN MICHAEL · 2020 to 2024
$11.5MA Large-Scale Schizophrenia Association Study in SwedenR01MH077139 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2007 to 2018
$9.9MStatistical methods for studies of rare variantsR01MH101244 · NIMH · HARVARD MEDICAL SCHOOL · PI Benjamin Michael Neale, ALKES L PRICE · 2013 to 2026
$9.4MStatistical methods to localize disease heritability and identify biological mechanismsR37MH107649 · NIMH · BROAD INSTITUTE, INC. · PI Benjamin Michael Neale · 2019 to 2026
$7.0MIdentification and characterization of inflammatory bowel disease causal variantsR01DK129364 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI Hailiang Huang · 2022 to 2026
$3.4M2/4 Powering Genetic Discovery for Severe Mental Illness in Latin American and African AncestriesU01MH125045 · NIMH · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI KOENEN, KARESTAN C · 2020 to 2024
$3.1MPsychosis Genetics Research in Africa: Building Capacity by Investing in PeopleR01MH120642 · NIMH · BROAD INSTITUTE, INC. · PI AKENA, DICKENS HOWARD, CHIBNIK, LORI BETH · 2019 to 2023
$3.1MThe GEN-SCRIP Study (GENetics of SChizophRenia in Pakistan)R01MH112904 · NIMH · SUNY DOWNSTATE MEDICAL CENTER · PI KNOWLES, JAMES A · 2017 to 2021
$2.9M1/7 Psychiatric Genomics Consortium: Finding actionable variationU01MH109528 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2016 to 2020
$2.5MMental Health Genomics Consortium Coordinating CenterU24MH140953 · NIMH · BROAD INSTITUTE, INC. · PI Hailiang Huang, Alicia Martin · 2026 to 2026
$2.4MFrom Genotypes to Phenotypes in Schizophrenia: A Developmental Functional Genomics ApproachK08MH118577 · NIMH · UNIVERSITY OF WASHINGTON · PI FORSYTH, JENNIFER KATHERINE · 2018 to 2022
$734kGenetics and gene regulation in the inflammatory bowel diseasesK01DK114379 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI HUANG, HAILIANG · 2017 to 2021
$632kNIDDK NIH HHS K01 DK114379NIDDK NIH HHS R01 DK129364NIMH NIH HHS K08 MH118577NIMH NIH HHS R01 MH077139NIMH NIH HHS R01 MH101244NIMH NIH HHS R01 MH112904NIMH NIH HHS R01 MH120642NIMH NIH HHS R37 MH107649NIMH NIH HHS U01 MH109528NIMH NIH HHS U01 MH125045NIMH NIH HHS U01 MH125047NIMH NIH HHS U24 MH140953
Abstract
In this study, we present the largest rare coding variant association study of schizophrenia to date, with 87,959 schizophrenia cases and 150,587 controls. We identify 16 genes at exome-wide significance:
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