SynthesisMolecular psychiatry2021
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Erratum issuedAbstract readMeta-Analysis
In one paragraph
Synthesis in Molecular psychiatry, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 12 papers, 3 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 3 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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Neurotransmission-related gene expression in the frontal pole is altered in subjects with bipolar disorder and schizophrenia.Translational psychiatry · 2023Pooled it
- Epigenetic signatures relating to disease-associated genotypic burden in familial risk of bipolar disorder.Translational psychiatry · 2022Pooled it
- Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia.Nature genetics · 2022Pooled it
- The Swedish bipolar collection (SWEBIC).International journal of bipolar disorders · 2025Article
- Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.Genes, brain, and behavior · 2024Article
- Bipolar Disorder.Current opinion in neurobiology · 2023Review
- Common and rare variant associations with latent traits underlying depression, bipolar disorder, and schizophrenia.Translational psychiatry · 2023Article
- Whole exome sequencing in dense families suggests genetic pleiotropy amongst Mendelian and complex neuropsychiatric syndromes.Scientific reports · 2022Article
- Rare variants implicate NMDA receptor signaling and cerebellar gene networks in risk for bipolar disorder.Molecular psychiatry · 2022Article
- RETRACTED: Activating SIRT-1 Signalling with the Mitochondrial-CoQ10 Activator Solanesol Improves Neurobehavioral and Neurochemical Defects in Ouabain-Induced Experimental Model of Bipolar Disorder.Pharmaceuticals (Basel, Switzerland) · 2022Article
- dbBIP: a comprehensive bipolar disorder database for genetic research.Database : the journal of biological databases and curation · 2022Article
- Functional and behavioral effects of de novo mutations in calcium-related genes in patients with bipolar disorder.Human molecular genetics · 2021Article
Corrections and comments
- Erratum issued
Authors and funding
76 authors.
Xiaoming Jia *Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, 94158, USA.
Fernando S Goes *Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, MD, 21287, USA.ORCID http://orcid.org/0000-0001-6262-8264
Adam E Locke *Division of Genomics & Bioinformatics, Department of Medicine and McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63108, USA.ORCID http://orcid.org/0000-0001-6227-198X
Duncan Palmer *Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.ORCID http://orcid.org/0000-0002-0824-0047
Weiqing Wang *Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.ORCID http://orcid.org/0000-0003-1565-0148
Sarah Cohen-WoodsDiscipline of Psychology and Flinders Centre for Innovation in Cancer, Flinders University, Adelaide, SA, Australia.
Giulio GenoveseStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.ORCID http://orcid.org/0000-0003-3066-5575
Anne U JacksonDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, 48109, USA.ORCID http://orcid.org/0000-0002-9672-2547
Chen JiangDivision of Research, Kaiser Permanente Northern California, Oakland, CA, 94611, USA.
Mark KvaleInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, 94143, USA.
Niamh MullinsPamela Sklar Division of Psychiatric Genomics, Department of Genetics and Genomic Science, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
Hoang NguyenDivision of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.ORCID http://orcid.org/0000-0001-6910-7269
Mehdi PiroozniaBioinformatics and Computational Core, National Heart, Lung, and Blood Institute, Bethesda, MD, 20892, USA.ORCID http://orcid.org/0000-0002-4210-6458
Margarita RiveraMedical Research Council Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Douglas M RuderferDepartments of Medicine, Psychiatry, and Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.
Ling ShenDivision of Research, Kaiser Permanente Northern California, Oakland, CA, 94611, USA.
Khanh ThaiDivision of Research, Kaiser Permanente Northern California, Oakland, CA, 94611, USA.
Matthew ZawistowskiDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, 48109, USA.ORCID http://orcid.org/0000-0002-3005-083X
Yongwen ZhuangDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, 48109, USA.
Gonçalo AbecasisDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, 48109, USA.ORCID http://orcid.org/0000-0003-1509-1825
Huda AkilMolecular & Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI, 48109, USA.
Sarah BergenDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.ORCID http://orcid.org/0000-0002-5888-0034
Margit BurmeisterMolecular & Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI, 48109, USA.ORCID http://orcid.org/0000-0002-1914-2434
Sinéad ChapmanStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
Melissa DelaBastideDivision of Research, Cold Spring Harbor Laboratory, Cold Spring, Harbor, NY, 11797, USA.
Anders JuréusDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Hyun Min KangDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, 48109, USA.
Pui-Yan KwokInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, 94143, USA.ORCID http://orcid.org/0000-0002-5087-3059
Jun Z LiDepartment of Computational Medicine & Bioinformatics, University of Michigan, Ann Arbor, MI, 48109, USA.ORCID http://orcid.org/0000-0001-6727-0812
Shawn E LevyHudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.ORCID http://orcid.org/0000-0002-1369-5740
Eric T MonsonDepartment of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA.
Jennifer MoranDepartment of Psychiatry, Massachusetts General Hospital, Boston, MA, 02114, USA.
Janet SobellDepartment of Psychiatry and Behavioral Sciences, University of Southern California, Los Angeles, CA, 90033, USA.
Stanley WatsonMolecular & Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI, 48109, USA.ORCID http://orcid.org/0000-0003-4980-5523
Virginia WillourDepartment of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA.
Sebastian ZöllnerDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, 48109, USA.
Rolf AdolfssonDepartments of Clinical Sciences and Psychiatry, Umea University, Umea, Sweden.
Douglas BlackwoodDivision of Psychiatry, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-4076-9346
Michael BoehnkeDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, 48109, USA.ORCID http://orcid.org/0000-0002-6442-7754
Gerome BreenMedical Research Council Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.ORCID http://orcid.org/0000-0003-2053-1792
Aiden CorvinDepartment of Psychiatry and Trinity Translational Medicine Institute, Trinity College Dublin, Dublin, Ireland.
Nick CraddockMedical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University School of Medicine, Cardiff, UK.
Arianna DiFlorioMedical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University School of Medicine, Cardiff, UK.
Christina M HultmanDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Mikael LandenDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.ORCID http://orcid.org/0000-0002-4496-6451
Cathryn LewisMedical Research Council Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.ORCID http://orcid.org/0000-0002-8249-8476
Steven A McCarrollDepartment of Genetics, Harvard Medical School, Boston, MA, 02115, USA.ORCID http://orcid.org/0000-0002-6954-8184
W Richard McCombieDivision of Research, Cold Spring Harbor Laboratory, Cold Spring, Harbor, NY, 11797, USA.
Peter McGuffinMedical Research Council Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Andrew McIntoshDivision of Psychiatry, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-0198-4588
Andrew McQuillinDivision of Psychiatry, University College London, London, UK.ORCID http://orcid.org/0000-0003-1567-2240
Derek MorrisDepartment of Psychiatry and Trinity Translational Medicine Institute, Trinity College Dublin, Dublin, Ireland.ORCID http://orcid.org/0000-0002-3413-570X
Richard M MyersHudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.
Michael O'DonovanMedical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University School of Medicine, Cardiff, UK.ORCID http://orcid.org/0000-0001-7073-2379
Roel OphoffCenter for Neurobehavioral Genetics, University of California Los Angeles, Los Angeles, CA, 90095, USA.
Marco BoksDepartment of Psychiatry, UMC Utrecht Brain Center Rudolf Magnus, Utrecht, the Netherlands.ORCID http://orcid.org/0000-0001-6163-7484
Rene KahnDepartment of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.ORCID http://orcid.org/0000-0001-5909-8004
Willem OuwehandDepartment of Haematology, School of Clinical Medicine, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0002-7744-1790
Michael OwenMedical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University School of Medicine, Cardiff, UK.ORCID http://orcid.org/0000-0003-4798-0862
Carlos PatoDepartment of Psychiatry and Behavioral Sciences, University of Southern California, Los Angeles, CA, 90033, USA.
Michele PatoDepartment of Psychiatry and Behavioral Sciences, University of Southern California, Los Angeles, CA, 90033, USA.
Danielle PosthumaDepartment of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
James B PotashDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, MD, 21287, USA.ORCID http://orcid.org/0000-0002-5802-8079
Andreas ReifDepartment of Psychiatry, Psychosomatic Medicine and Psychotherapy, University Hospital Frankfurt, Frankfurt am Main, Germany.ORCID http://orcid.org/0000-0002-0992-634X
Pamela SklarDivision of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
Jordan SmollerStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
Patrick F SullivanDepartments of Genetics and Psychiatry, University of North Carolina, Chapel Hill, NC, USA.
John VincentMolecular Neuropsychiatry and Development Laboratory, Campbell Family Mental Health Research Institute, Center for Addiction & Mental Health, Toronto, ON, Canada.ORCID http://orcid.org/0000-0003-0692-2519
James WaltersMedical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University School of Medicine, Cardiff, UK.
Benjamin NealeStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.ORCID http://orcid.org/0000-0003-1513-6077
Shaun PurcellDivision of Sleep and Circadian Disorders, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.ORCID http://orcid.org/0000-0002-7402-5812
Neil RischInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, 94143, USA.
Catherine SchaeferDivision of Research, Kaiser Permanente Northern California, Oakland, CA, 94611, USA.ORCID http://orcid.org/0000-0003-2644-055X
Eli A StahlDivision of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.ORCID http://orcid.org/0000-0002-1192-0561
Peter P ZandiDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, MD, 21287, USA. pzandi1@jhmi.edu.ORCID http://orcid.org/0000-0001-8423-2623
Laura J ScottDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, 48109, USA. ljst@umich.edu.ORCID http://orcid.org/0000-0002-4886-5084
Funding
Single-Cell Biology Shared ResourceP30CA045508 · NCI · COLD SPRING HARBOR LABORATORY · PI John Edward Moses · 1987 to 2026
$118.9MA Resource for Genetic Epidemiology Research in Adult Health and AgingRC2AG036607 · NIA · KAISER FOUNDATION RESEARCH INSTITUTE · PI RISCH, NEIL J., SCHAEFER, CATHERINE ANN · 2009 to 2010
$24.8MAfrican Ancestry Genomic Psychiatry CohortR01MH104964 · NIMH · SUNY DOWNSTATE MEDICAL CENTER · PI BIGDELI, TIM BERNARD, FANOUS, AYMAN H · 2015 to 2024
$16.7MGenomic Psychiatry CohortR01MH085548 · NIMH · UNIVERSITY OF SOUTHERN CALIFORNIA · PI PATO, CARLOS N, PATO, MICHELE T · 2008 to 2012
$16.3MMulti-Ethnic Genome-Wide Study of Bipolar DisorderR01MH085543 · NIMH · KAISER FOUNDATION RESEARCH INSTITUTE · PI SCHAEFER, CATHERINE ANN · 2008 to 2012
$12.4MA Large-Scale Schizophrenia Association Study in SwedenR01MH077139 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2007 to 2018
$9.9MLatino Ancestry Genomic Psychiatry CohortR01MH123451 · NIMH · SUNY DOWNSTATE MEDICAL CENTER · PI BIGDELI, TIM BERNARD, FANOUS, AYMAN H · 2020 to 2025
$7.1MBioinformatics CoreZICHL006228 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI PIROOZNIA, MEHDI · 2017 to 2021
$6.6M2/2-Rare Bipolar Loci Identification Through Synaptome Sequencing.R01MH087992 · NIMH · COLD SPRING HARBOR LABORATORY · PI MCCOMBIE, WILLIAM RICHARD · 2010 to 2014
$3.9M2/2 Large-Scale Genetic Studies of Schizophrenia in SwedenR01MH095034 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI STAHL, ELI A · 2012 to 2019
$3.6MWhole Genome Sequencing for Schizophrenia and Bipolar Disorder in the GPCU01MH105653 · NIMH · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL L · 2014 to 2018
$2.8MThe Bipolar Sequencing Consortium for Combined Analyses and Follow-Up - SupplementR01MH110437 · NIMH · JOHNS HOPKINS UNIVERSITY · PI BOEHNKE, MICHAEL L, FREIMER, NELSON B. · 2016 to 2018
$2.5MMedical Research Council MR/L010305/1National Centre for the Replacement, Refinement and Reduction of Animals in Research NC/C011202/1NCI NIH HHS P30 CA045508NIA NIH HHS RC2 AG036607NIMH NIH HHS R01 MH077139NIMH NIH HHS R01 MH085543NIMH NIH HHS R01 MH085548NIMH NIH HHS R01 MH087979NIMH NIH HHS R01 MH087992NIMH NIH HHS R01 MH094145NIMH NIH HHS R01 MH095034NIMH NIH HHS R01 MH104964NIMH NIH HHS R01 MH106527NIMH NIH HHS R01 MH106531NIMH NIH HHS R01 MH110437NIMH NIH HHS R01 MH123451NIMH NIH HHS U01 MH105653
Abstract
Bipolar disorder (BD) is a serious mental illness with substantial common variant heritability. However, the role of rare coding variation in BD is not well established. We examined the protein-coding (exonic) sequences of 3,987 unrelated individuals with BD and 5,322 controls of predominantly European ancestry across four cohorts from the Bipolar Sequencing Consortium (BSC). We assessed the burden of rare, protein-altering, single nucleotide variants classified as pathogenic or likely pathogenic (P-LP) both exome-wide and within several groups of genes with phenotypic or biologic plausibility in BD. While we observed an increased burden of rare coding P-LP variants within 165 genes identified as BD GWAS regions in 3,987 BD cases (meta-analysis OR = 1.9, 95% CI = 1.3-2.8, one-sided p = 6.0 × 10
Indexed as
Bipolar DisorderSchizophreniaExomeGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyHumansPolymorphism, Single Nucleotide
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