ArticleBiological psychiatry2019
Contribution of Rare Copy Number Variants to Bipolar Disorder Risk Is Limited to Schizoaffective Cases.
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Article in Biological psychiatry, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 3 of them syntheses that pooled it.
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39citing papers in PubMed, 3 pooled it
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Who cites it
39 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Clinical characteristics indexing genetic differences in bipolar disorder - a systematic review.Molecular psychiatry · 2023Pooled it
- Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia.Nature genetics · 2022Pooled it
- Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.Molecular psychiatry · 2021Pooled it
- Attention deficit hyperactivity disorder: transition to psychotic disorders.Molecular psychiatry · 2026Review
- Higher frequencies of CNV deletions in bipolar disorder among Chinese Population.Molecular psychiatry · 2026Article
- Genomics of schizophrenia, bipolar disorder and major depressive disorder.Nature reviews. Genetics · 2025Review
- Transcriptomic and epigenomic consequences of heterozygous loss-of-function mutations in AKAP11, a shared risk gene for bipolar disorder and schizophrenia.Molecular psychiatry · 2025Article
- Polygenic risk scores for severe psychiatric disorders in bipolar disorders: associations with the clinical and dimensional expression, interactions with childhood maltreatment and mediation models.Translational psychiatry · 2025Article
- Genome-wide copy number variation association study in anorexia nervosa.Molecular psychiatry · 2025Article
- Independent inheritance of cognition and bipolar disorder in a family sample.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2025Article
- Heterogeneity analysis provides evidence for a genetically homogeneous subtype of bipolar-disorder.PloS one · 2025Article
- Copy number variations in RNF216 and postsynaptic membrane-associated genes are associated with bipolar disorder: a case-control study in the Japanese population.Psychiatry and clinical neurosciences · 2025Article
- Article
- Heterogeneity analysis provides evidence for a genetically homogeneous subtype of bipolar-disorder.ArXiv · 2024Article
- Rare and common variants associated with alcohol consumption identify a conserved molecular network.Alcohol, clinical & experimental research · 2024Article
- Progress and Implications from Genetic Studies of Bipolar Disorder.Neuroscience bulletin · 2024Review
- Analyses of the autism-associated neuroligin-3 R451C mutation in human neurons reveal a gain-of-function synaptic mechanism.Molecular psychiatry · 2024Article
- Rare and Common Variants Associated with Alcohol Consumption Identify a Conserved Molecular Network.bioRxiv : the preprint server for biology · 2024Article
- Intrauterine ultrasound phenotyping, molecular characteristics, and postnatal follow-up of fetuses with the 15q11.2 BP1-BP2 microdeletion syndrome: a single-center, retrospective clinical study.BMC pregnancy and childbirth · 2024Article
- Impact of Copy Number Variants and Polygenic Risk Scores on Psychopathology in the UK Biobank.Biological psychiatry · 2023Article
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Authors and funding
46 authors.
Alexander W CharneyDepartment of Psychiatry, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Neurosurgery, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Genetics and Genomic Sciences, Icahn Institute of Genomics and Multiscale Biology, New York, New York. Electronic address: alexander.charney@mssm.edu.
Eli A StahlDepartment of Genetics and Genomic Sciences, Icahn Institute of Genomics and Multiscale Biology, New York, New York.
Elaine K GreenSchool of Biomedical and Health Sciences, Plymouth University Peninsula Schools of Medicine and Dentistry, Plymouth University, Portland Square, Plymouth, UK.
Chia-Yen ChenStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts; Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Boston, Massachusetts.
Jennifer L MoranDepartment of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts.
Kimberly ChambertStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts.
Richard A BelliveauStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts.
Liz FortyMRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK.
Katherine Gordon-SmithDepartment of Psychiatry, University of Birmingham, Birmingham, UK.
Phil H LeeStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts; Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts; Department of Psychiatry, Brigham and Women's Hospital, Boston, Massachusetts.
Evelyn J BrometDepartment of Psychiatry, Stony Brook University, Stony Brook, New York.
Peter F BuckleySchool of Medicine, Virginia Commonwealth University, Richmond, Virginia; Department of Psychiatry, Georgia Regents University Medical Center, Augusta, Georgia.
Michael A EscamillaCenter of Excellence in Neuroscience, Department of Psychiatry, Texas Tech University Health Sciences Center at El Paso, El Paso, Texas.
Ayman H FanousDepartment of Psychiatry and the Behavioral Sciences, State University of New York, Downstate Medical Center, New York, New York; Department of Psychiatry, VA New York Harbor Healthcare System, Brooklyn, New York.
Laura J FochtmannDepartment of Psychiatry, Stony Brook University, Stony Brook, New York.
Douglas S LehrerDepartment of Psychiatry, Wright State University, Dayton, Ohio.
Dolores MalaspinaDepartment of Psychiatry, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Genetics and Genomic Sciences, Icahn Institute of Genomics and Multiscale Biology, New York, New York; Department of Psychiatry, New York University, New York, New York.
Stephen R MarderSemel Institute for Neuroscience, University of California, Los Angeles, California.
Christopher P MorleyDepartment of Psychiatry and Behavioral Science, State University of New York, Upstate Medical University, Syracuse, New York; Department of Family Medicine, State University of New York, Upstate Medical University, Syracuse, New York; Department of Public Health and Preventive Medicine, State University of New York, Upstate Medical University, Syracuse, New York.
Humberto NicoliniCenter for Genomic Sciences, Universidad Autónoma de la Ciudad de México, Mexico City, Mexico; Department of Psychiatry, Carracci Medical Group, Mexico City, Mexico.
Diana O PerkinsDepartment of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
Jeffrey J RakofskyDepartment of Psychiatry and Behavioral Sciences, Emory University, Atlanta, Georgia.
Mark H RapaportDepartment of Psychiatry and Behavioral Sciences, Emory University, Atlanta, Georgia.
Helena MedeirosDepartment of Psychiatry and the Behavioral Sciences, State University of New York, Downstate Medical Center, New York, New York.
Janet L SobellDepartment of Psychiatry and the Behavioral Sciences, University of Southern California, Keck School of Medicine, Los Angeles, California.
Lena BacklundDepartment of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Sarah E BergenDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Anders JuréusDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Martin SchallingDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Paul LichtensteinDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
James A KnowlesDepartment of Cell Biology, State University of New York, Downstate Medical Center, New York, New York.
Katherine E BurdickDepartment of Psychiatry, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Psychiatry, Brigham and Women's Hospital, Boston, Massachusetts; Department of Psychiatry, Brigham and Women's Hospital, Boston, Massachusetts.
Ian JonesMRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK.
Lisa A JonesDepartment of Psychiatry, University of Birmingham, Birmingham, UK.
Christina M HultmanDepartment of Psychiatry, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Roy PerlisCenter for Experimental Therapeutics, Massachusetts General Hospital, Boston, Massachusetts.
Shaun M PurcellDepartment of Psychiatry, Brigham and Women's Hospital, Boston, Massachusetts; Department of Psychiatry, Brigham and Women's Hospital, Boston, Massachusetts.
Steven A McCarrollStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts; Department of Genetics, Harvard Medical School, Brigham and Women's Hospital, Boston, Massachusetts.
Carlos N PatoDepartment of Psychiatry and the Behavioral Sciences, State University of New York, Downstate Medical Center, New York, New York.
Michele T PatoDepartment of Psychiatry and the Behavioral Sciences, State University of New York, Downstate Medical Center, New York, New York.
Ariana Di FlorioDepartment of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK.
Nick CraddockMRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK.
Mikael LandénDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden; Institute of Neuroscience and Physiology, Sahlgenska Academy at the Gothenburg University, Gothenburg, Sweden.
Jordan W SmollerStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts; Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Boston, Massachusetts.
Douglas M RuderferDivision of Genetic Medicine, Departments of Medicine, Biomedical Informatics, and Psychiatry, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, Tennessee. Electronic address: douglas.ruderfer@vanderbilt.edu.
Pamela SklarDepartment of Psychiatry, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Genetics and Genomic Sciences, Icahn Institute of Genomics and Multiscale Biology, New York, New York.
Funding
African 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
$16.3MInternational Cohort Collection for Bipolar DisorderR01MH085542 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI SMOLLER, JORDAN W · 2008 to 2012
$10.7MLatino Ancestry Genomic Psychiatry CohortR01MH123451 · NIMH · SUNY DOWNSTATE MEDICAL CENTER · PI BIGDELI, TIM BERNARD, FANOUS, AYMAN H · 2020 to 2025
$7.1M3/7 Psychiatric Genomics Consortium: Finding actionable variationU01MH109536 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI CHARNEY, ALEXANDER W, HUCKINS, LAURA MARIANNE · 2016 to 2020
$2.7MComprehensive analysis of genetic pleiotropy in eleven neuropsychiatric disordersR01MH119243 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI LEE, PHIL H. · 2020 to 2024
$2.3M1/3 Genetic Analysis of the International Cohort Collection for Bipolar DisorderR01MH106531 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI STAHL, ELI A · 2015 to 2017
$1.2MNeuroimaging genetics to study social cognitive deficits in ASD and schizophreniaR00MH101367 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI LEE, PHIL H. · 2017 to 2019
$747k3/3 Genetic Analysis of the International Cohort Collection for Bipolar DisorderR01MH106547 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI SMOLLER, JORDAN W · 2015 to 2017
$522kNeuroimaging genetics to study social cognitive deficits in ASD and schizophreniaK99MH101367 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI LEE, PHIL H. · 2014 to 2015
$237kMedical Research Council MR/L010305/1NIMH NIH HHS K99 MH101367NIMH NIH HHS R00 MH101367NIMH NIH HHS R01 MH085542NIMH NIH HHS R01 MH085548NIMH NIH HHS R01 MH104964NIMH NIH HHS R01 MH106531NIMH NIH HHS R01 MH106547NIMH NIH HHS R01 MH119243NIMH NIH HHS R01 MH123451NIMH NIH HHS U01 MH109536Wellcome Trust
Abstract
backgroundGenetic risk for bipolar disorder (BD) is conferred through many common alleles, while a role for rare copy number variants (CNVs) is less clear. Subtypes of BD including schizoaffective disorder bipolar type (SAB), bipolar I disorder (BD I), and bipolar II disorder (BD II) differ according to the prominence and timing of psychosis, mania, and depression. The genetic factors contributing to the combination of symptoms among these subtypes are poorly understood.
methodsRare large CNVs were analyzed in 6353 BD cases (3833 BD I [2676 with psychosis, 850 without psychosis, and 307 with unknown psychosis history], 1436 BD II, 579 SAB, and 505 BD not otherwise specified) and 8656 controls. CNV burden and a polygenic risk score (PRS) for schizophrenia were used to evaluate the relative contributions of rare and common variants to risk of BD, BD subtypes, and psychosis.
resultsCNV burden did not differ between BD and controls when treated as a single diagnostic entity. However, burden in SAB was increased relative to controls (p = .001), BD I (p = .0003), and BD II (p = .0007). Burden and schizophrenia PRSs were increased in SAB compared with BD I with psychosis (CNV p = .0007, PRS p = .004), and BD I without psychosis (CNV p = .0004, PRS p = 3.9 × 10
conclusionsCNV burden in BD is limited to SAB. Rare and common genetic variants may contribute differently to risk for psychosis and perhaps other classes of psychiatric symptoms.
Indexed as
Bipolar DisorderCase-Control StudiesCohort StudiesDNA Copy Number VariationsGene DuplicationGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMultifactorial InheritancePsychotic DisordersSchizophreniaBipolar disorderCopy number variantGeneticsPolygenic risk scoreRare variant burdenSchizophrenia
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