ArticlemedRxiv : the preprint server for health sciences2024
Fine-mapping genomic loci refines bipolar disorder risk genes.
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Article in medRxiv : the preprint server for health sciences, 2024. 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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133 authors at 20 institutions in 23 countries.
Maria KorominaDepartment of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0001-8843-082X
Ashvin RaviDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0009-0001-6225-7026
Georgia PanagiotaropoulouDepartment of Psychiatry and Psychotherapy, Charité - Universitätsmedizin, Berlin, Germany.ORCID 0000-0001-9516-6158
Brian M SchilderDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0001-5949-2191
Jack HumphreyDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-6274-6620
Alice BraunDepartment of Psychiatry and Psychotherapy, Charité - Universitätsmedizin, Berlin, Germany.ORCID 0000-0003-1145-0261
Tim BidgeliSUNY Downstate Health Sciences University.
Chris ChatzinakosSUNY Downstate Health Sciences University.
Brandon CoombesDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0003-4322-5923
Jaeyoung KimSamsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Samsung Medical Center, Seoul, Republic of Korea.
Xiaoxi LiuLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Chikashi TeraoLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Kevin S O 'ConnellDivision of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.ORCID 0000-0002-6865-8795
Mark AdamsDivision of Psychiatry, Centre for Clinical Brain Sciences, The University of Edinburgh, Edinburgh, UK.
Adolfsson RolfDepartment of Clinical Sciences, Psychiatry, Umeå, University Medical Faculty, Umeå, Sweden.ORCID 0000-0001-9785-8473
Martin AldaDepartment of Psychiatry, Dalhousie University, Halifax, NS, Canada.ORCID 0000-0001-9544-3944
Lars AlfredssonInstitute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0003-1688-6697
Till F M AndlauerDepartment of Neurology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.ORCID 0000-0002-2917-5889
Ole A AndreassenDivision of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.ORCID 0000-0002-4461-3568
Anastasia AntoniouNational Kapodistrian University of Athens, 2nd Department of Psychiatry, Attikon General Hospital, Athens, Greece.ORCID 0000-0001-9557-8793
Bernhard T BauneDepartment of Psychiatry, University of Münster, Münster, Germany.ORCID 0000-0001-6548-426X
Susanne BengesserMedical University of Graz, Division of Psychiatry and Psychotherapeutic Medicine, Graz, Austria.ORCID 0000-0001-8012-908X
Joanna BiernackaDepartment of Quantitative Health Sciences Research, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0001-9350-4440
Michael BoehnkeCenter for Statistical Genetics and Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0002-6442-7754
Rosa BoschInstituto de Salud Carlos III, Biomedical Network Research Centre on Mental Health (CIBERSAM), Madrid, Spain.ORCID 0000-0002-7596-183X
Murray J CairnsUniversity of Newcastle, Newcastle, NSW, Australia.ORCID 0000-0003-2490-2538
Vaughan J CarrSchool of Clinical Medicine, Discipline of Psychiatry and Mental Health, University of New South Wales, Sydney, NSW, Australia.ORCID 0000-0002-8907-5804
Miquel CasasInstituto de Salud Carlos III, Biomedical Network Research Centre on Mental Health (CIBERSAM), Madrid, Spain.
Stanley CattsUniversity of Queensland, Brisbane, QLD, Australia.
Sven CichonDepartment of Biomedicine, University of Basel, Basel, Switzerland.ORCID 0000-0002-9475-086X
Aiden CorvinNeuropsychiatric Genetics Research Group, Dept of Psychiatry and Trinity Translational Medicine Institute, Trinity College Dublin, Dublin, Ireland.ORCID 0000-0001-6717-4089
Nicholas CraddockCentre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.ORCID 0000-0003-2171-0610
Konstantinos DafnasNational Kapodistrian University of Athens, 2nd Department of Psychiatry, Attikon General Hospital, Athens, Greece.ORCID 0009-0009-1117-3816
Nina DalknerMedical University of Graz, Division of Psychiatry and Psychotherapeutic Medicine, Graz, Austria.ORCID 0000-0001-7716-3674
Udo DannlowskiInstitute for Translational Psychiatry, University of Münster, Münster, Germany.ORCID 0000-0002-0623-3759
Franziska DegenhardtInstitute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.ORCID 0000-0002-1685-8904
Arianna Di FlorioCentre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.ORCID 0000-0003-0338-2748
Dimitris DikeosNational Kapodistrian University of Athens, 2nd Department of Psychiatry, Attikon General Hospital, Athens, Greece.ORCID 0000-0003-4217-5282
Frederike Tabea FellendorfMedical University of Graz, Division of Psychiatry and Psychotherapeutic Medicine, Graz, Austria.ORCID 0000-0001-7215-3848
Panagiotis FerentinosNational Kapodistrian University of Athens, 2nd Department of Psychiatry, Attikon General Hospital, Athens, Greece.ORCID 0000-0001-8531-5623
Andreas J ForstnerInstitute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.ORCID 0000-0002-1876-6368
Liz FortyCentre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.ORCID 0000-0002-4349-8414
Mark FryeDepartment of Psychiatry and Psychology, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0001-6997-4215
Janice M FullertonNeuroscience Research Australia, Sydney, NSW, Australia.ORCID 0000-0003-4014-4490
Micha GawlikDepartment of Psychiatry, Psychosomatics and Psychotherapy, Center of Mental Health, University Hospital Würzburg, Würzburg, Germany.ORCID 0000-0002-2166-3992
Ian R GizerDepartment of Psychological Sciences, University of Missouri, Columbia, MO, USA.ORCID 0000-0002-4026-5674
Katherine Gordon-SmithPsychological Medicine, University of Worcester, Worcester, UK.ORCID 0000-0003-4083-1143
Melissa J GreenNeuroscience Research Australia, Sydney, NSW, Australia.
Maria Grigoroiu-SerbanescuBiometric Psychiatric Genetics Research Unit, Alexandru Obregia Clinical Psychiatric Hospital, Bucharest, Romania.ORCID 0000-0002-1304-6687
José Guzman-ParraMental Health Department, University Regional Hospital, Biomedicine Institute (IBIMA), Málaga, Spain.ORCID 0000-0002-1463-6435
Tim HahnInstitute for Translational Psychiatry, University of Münster, Münster, Germany.
Frans HenskensUniversity of Newcastle, Newcastle, NSW, Australia.ORCID 0000-0003-2358-5630
Jan HillertDepartment of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Assen V JablenskyUniversity of Western Australia, Nedlands, WA, Australia.
Lisa JonesPsychological Medicine, University of Worcester, Worcester, UK.ORCID 0000-0002-5122-8334
Ian JonesCentre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.ORCID 0000-0001-5821-5889
Lina JonssonInstitute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden.ORCID 0000-0002-3175-103X
John R KelsoeDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.ORCID 0000-0002-3013-2333
Tilo KircherDepartment of Psychiatry and Psychotherapy, University of Marburg, Germany.ORCID 0000-0002-2514-2625
George KirovCentre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.ORCID 0000-0002-3427-3950
Sarah Kittel-SchneiderDepartment of Psychiatry, Psychosomatics and Psychotherapy, Center of Mental Health, University Hospital Würzburg, Würzburg, Germany.ORCID 0000-0003-3057-6150
Manolis KogevinasISGlobal, Barcelona, Spain.ORCID 0000-0002-9605-0461
Mikael LandénInstitute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden.ORCID 0000-0002-4496-6451
Marion LeboyerUniversity of Paris Est Créteil, INSERM, IMRB, Translatiol Neuropsychiatry, Créteil, France.ORCID 0000-0001-5473-3697
Melanie LengerMedical University of Graz, Division of Psychiatry and Psychotherapeutic Medicine, Graz, Austria.
Jolanta LissowskaCancer Epidemiology and Prevention, M. Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.ORCID 0000-0003-2695-5799
Christine LochnerSA MRC Unit on Risk and Resilience in Mental Disorders, Dept of Psychiatry, Stellenbosch University, Stellenbosch, South Africa.ORCID 0000-0002-4766-3704
Carmel LoughlandUniversity of Newcastle, Newcastle, NSW, Australia.
Donald MacIntyreDivision of Psychiatry, Centre for Clinical Brain Sciences, The University of Edinburgh, Edinburgh, UK.
Nicholas G MartinGenetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Eirini MaratouNational and Kapodistrian University of Athens, Medical School, Clinical Biochemistry Laboratory, Attikon General Hospital, Athens, Greece.ORCID 0000-0002-9982-7942
Carol A MathewsDepartment of Psychiatry and Genetics Institute, University of Florida, Gainesville, FL, USA.ORCID 0000-0003-2208-7058
Fermin MayoralMental Health Department, University Regional Hospital, Biomedicine Institute (IBIMA), Málaga, Spain.ORCID 0000-0002-9710-9672
Susan L McElroyResearch Institute, Lindner Center of HOPE, Mason, OH, USA.ORCID 0000-0002-8879-0865
Nathaniel W McGregorSystems Genetics Working Group, Department of Genetics, Stellenbosch University, Stellenbosch, South Africa.ORCID 0000-0001-7195-4993
Andrew McIntoshDivision of Psychiatry, Centre for Clinical Brain Sciences, The University of Edinburgh, Edinburgh, UK.ORCID 0000-0002-0198-4588
Andrew McQuillinDivision of Psychiatry, University College London, London, UK.ORCID 0000-0003-1567-2240
Patricia MichieUniversity of Newcastle, Newcastle, NSW, Australia.
Philip B MitchellDiscipline of Psychiatry and Mental Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.
Paraskevi MoutsatsouNational Kapodistrian University of Athens, Medical School, Clinical Biochemistry Laboratory, Attikon General Hospital, Athens, Greece.ORCID 0000-0001-9549-2295
Bryan MowryUniversity of Queensland, Brisbane, QLD, Australia.
Bertram Müller-MyhsokDepartment of Translational Research in Psychiatry, Max Planck Institute of Psychiatry, Munich, Germany.
Richard M MyersHudsolpha Institute for Biotechnology, Huntsville, AL, USA.ORCID 0000-0001-9701-676X
Igor NenadićDepartment of Psychiatry and Psychotherapy, University of Marburg, Marburg, Germany.
Caroline NievergeltDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.ORCID 0000-0001-5766-8923
Markus M NöthenInstitute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.ORCID 0000-0002-8770-2464
John NurnbergerStark Neurosciences Research Institute, Indiana University School of Medicine.ORCID 0000-0002-7674-1767
Michael O 'DonovanCentre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.ORCID 0000-0001-7073-2379
Claire O'DonovanDepartment of Psychiatry, Dalhousie University, Halifax, NS, Canada.ORCID 0000-0002-8640-3016
Roel A OphoffCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, Los Angeles, CA, USA.ORCID 0000-0002-8287-6457
Michael J OwenCentre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.ORCID 0000-0003-4798-0862
Christos PantelisDepartment of Psychiatry, University of Melbourne, VIC, Australia.ORCID 0000-0002-9565-0238
Carlos PatoInstitute for Genomic Health, SUNY Downstate Medical Center College of Medicine, Brooklyn, NY, USA.ORCID 0000-0002-5858-266X
Michele T PatoInstitute for Genomic Health, SUNY Downstate Medical Center College of Medicine, Brooklyn, NY, USA.ORCID 0000-0002-4589-7398
George P PatrinosUniversity of Patras, School of Health Sciences, Department of Pharmacy, Laboratory of Pharmacogenomics and Individualized Therapy, Patras, Greece.ORCID 0000-0002-0519-7776
Joanna M PawlakDepartment of Psychiatry, Departmet of Psychiatric Genetics, Poznan University of Medical Sciences, Poznan, Poland.ORCID 0000-0001-5064-3707
Roy H PerlisPsychiatry, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-5862-6757
Evgenia Porichitiol and Kapodistrian University of Athens, 2nd Department of Psychiatry, Attikon General Hospital, Athens, Greece.
Danielle PosthumaDepartment of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.ORCID 0000-0001-7582-2365
Josep Antoni Ramos-QuirogaInstituto de Salud Carlos III, Biomedical Network Research Centre on Mental Health (CIBERSAM), Madrid, Spain.
Andreas ReifDepartment of Psychiatry, Psychosomatic Medicine and Psychotherapy, University Hospital Frankfurt, Frankfurt am Main, Germany.ORCID 0000-0002-0992-634X
Eva Z ReininghausMedical University of Graz, Division of Psychiatry and Psychotherapeutic Medicine, Graz, Austria.ORCID 0000-0001-5964-4087
Marta RibasésInstituto de Salud Carlos III, Biomedical Network Research Centre on Mental Health (CIBERSAM), Madrid, Spain.ORCID 0000-0003-1039-1116
Marcella RietschelDepartment of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.ORCID 0000-0002-5236-6149
Ulrich SchallUniversity of Newcastle, Newcastle, NSW, Australia.
Peter R SchofieldNeuroscience Research Australia, Sydney, NSW, Australia.ORCID 0000-0003-2967-9662
Thomas G SchulzeDepartment of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.ORCID 0000-0001-6624-2975
Laura ScottCenter for Statistical Genetics and Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0002-4886-5084
Rodney J ScottUniversity of Newcastle, Newcastle, NSW, Australia.ORCID 0000-0001-7724-3404
Alessandro SerrettiDepartment of Medicine and Surgery, Kore University of Enna, Italy.ORCID 0000-0003-4363-3759
Cynthia Shannon WeickertDiscipline of Psychiatry and Mental Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.
Jordan W SmollerStanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA.ORCID 0000-0002-0381-6334
Maria Soler ArtigasInstituto de Salud Carlos III, Biomedical Network Research Centre on Mental Health (CIBERSAM), Madrid, Spain.ORCID 0000-0002-3213-1107
Dan J SteinSAMRC Unit on Risk and Resilience in Mental Disorders, Dept of Psychiatry and Neuroscience Institute, University of Cape Town, Cape Town, South Africa.ORCID 0000-0001-7218-7810
Fabian StreitDepartment of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.ORCID 0000-0003-1080-4339
Claudio TomaNeuroscience Research Australia, Sydney, NSW, Australia.
Paul TooneyUniversity of Newcastle, Newcastle, NSW, Australia.
Marquis P VawterFunctional Genomics Laboratory, School of Medicine, University of California, Irvine Canada.ORCID 0000-0002-7987-6309
Eduard VietaClinical Institute of Neuroscience, Hospital Clinic, University of Barcelona, IDIBAPS, CIBERSAM, Barcelona, Spain.ORCID 0000-0002-0548-0053
John B VincentCampbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.ORCID 0000-0003-0692-2519
Irwin D WaldmanDepartment of Psychology, Emory University, Atlanta, GA, USA.ORCID 0000-0002-6862-1837
Thomas WeickertDiscipline of Psychiatry and Mental Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.
Stephanie H WittDepartment of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.ORCID 0000-0002-1571-1468
Kyung Sue HongDepartment of Psychiatry, University of British Columbia, Vancouver, British Columbia, Canada.ORCID 0000-0001-6237-2449
Masashi IkedaDepartment of Psychiatry, Fujita Health University School of Medicine, Toyoake, Japan.ORCID 0000-0003-3189-6076
Nakao IwataDepartment of Psychiatry, Fujita Health University School of Medicine, Toyoake, Japan.
Beata ŚwiątkowskaDepartment of Environmental Epidemiology, Nofer Institute of Occupational Medicine, Lodz, Poland.
Hong-Hee WonSamsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Samsung Medical Center, Seoul, Republic of Korea.ORCID 0000-0001-5719-0552
Howard J EdenbergBiochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, IN, USA.ORCID 0000-0003-0344-9690
Stephan RipkeDepartment of Psychiatry and Psychotherapy, Charité - Universitätsmedizin, Berlin, Germany.ORCID 0000-0003-3622-835X
Towfique RajDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-9355-5704
Jonathan R I ColemanSocial, Genetic and Developmental Psychiatry Centre, King's College London, London, UK.ORCID 0000-0002-6759-0944
Niamh MullinsDepartment of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0001-8021-839X
University of Newcastle Australia · AUCardiff University · GBIcahn School of Medicine at Mount Sinai · USNational and Kapodistrian University of Athens · GRUNSW Sydney · AUMedical University of Graz · ATSUNY Downstate Health Sciences University · USUniversity of Bonn · DEHeidelberg University · DEKarolinska Institutet · SEThe University of Queensland · AUUniversity of California San Diego · USUniversity of Edinburgh · GBCharité - Universitätsmedizin Berlin · DEDalhousie University · CAFujita Health University · JPGoethe University Frankfurt · DEHospital Sant Joan de Déu Barcelona · ESInstituto de Investigación Biomédica de Málaga · ESKing's College London · GB
Funding
Research Education ComponentP30AG066514 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Carolyn Wei Zhu · 2020 to 2026
$31.0M1/7 Psychiatric Genomics Consortium: Finding actionable variationU01MH109528 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2016 to 2020
$2.5MBig Omics Data Engine 2 SupercomputerS10OD026880 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2019 to 2019
$2.0M3/7 Psychiatric Genomics Consortium: Advancing Discovery and ImpactR01MH124839 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI ANDREASSEN, OLE A, HUCKINS, LAURA MARIANNE · 2021 to 2025
$2.0MTransforming Genomics with 5 PB Big Omics Data Engine Cray CS300-AC SupercomputerS10OD018522 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2014 to 2014
$1.9M1/4 Psychiatric GWAS Consortium: Genomic Follow-up Next-Gen Sequencing & GenotypiU01MH094421 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2012 to 2015
$1.9M1/5-The Psychiatric GWAS Consortium: Integrated & Coordinated GWAS Meta-AnalysesU01MH085520 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2008 to 2008
$642kMRF_ MRF-001-0012-RG-COLE-C0930NIA NIH HHS P30 AG066514NIH HHS S10 OD018522NIH HHS S10 OD026880NIMH NIH HHS R01 MH124839NIMH NIH HHS U01 MH085520NIMH NIH HHS U01 MH094421NIMH NIH HHS U01 MH109528
Abstract
Bipolar disorder (BD) is a heritable mental illness with complex etiology. While the largest published genome-wide association study identified 64 BD risk loci, the causal SNPs and genes within these loci remain unknown. We applied a suite of statistical and functional fine-mapping methods to these loci, and prioritized 17 likely causal SNPs for BD. We mapped these SNPs to genes, and investigated their likely functional consequences by integrating variant annotations, brain cell-type epigenomic annotations, brain quantitative trait loci, and results from rare variant exome sequencing in BD. Convergent lines of evidence supported the roles of genes involved in neurotransmission and neurodevelopment including
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