ArticleThe American journal of psychiatry2019
Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia.
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Article in The American journal of psychiatry, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 97 papers, 3 of them syntheses that pooled it.
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97citing papers in PubMed, 3 pooled it
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Who cites it
97 citing papers in PubMed, 3 syntheses or guidelines pooled it, 175 citations in OpenAlex.
- Contribution of copy number variants to schizophrenia in East Asian populations.Nature genetics · 2026Pooled it
- Meta-analysis of epigenetic aging in schizophrenia reveals multifaceted relationships with age, sex, illness duration, and polygenic risk.Clinical epigenetics · 2024Pooled it
- Clinical Characterization of Copy Number Variants Associated With Neurodevelopmental Disorders in a Large-scale Multiancestry Biobank.JAMA psychiatry · 2022Pooled it
- Polygenic risk meets early trauma: toward a neuropsychodevelopmental model of schizophrenia.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Genome-wide tandem repeat expansions modify schizophrenia risk in the presence of a 22q11.2 deletion.Molecular psychiatry · 2026Article
- Recurrent Copy Number Variants and Psychiatric Outcomes in the Context of Polygenic Scores.JAMA psychiatry · 2026Article
- Computational strategies for copy number variation detection, disease association, and beyond.Genome biology · 2026Review
- Advancing risk gene discovery across the allele frequency spectrum.HGG advances · 2026Review
- Transcriptomic and phenotypic convergence of neurodevelopmental disorder risk genes in vitro and in vivo.Nature neuroscience · 2026Article
- Combinatorial effects of gene dosage, polygenic background and environment on complex traits.medRxiv : the preprint server for health sciences · 2026Article
- Choice of phenotype scale is critical in biobank-based G×E tests.bioRxiv : the preprint server for biology · 2026Article
- Genetics to Improve Outcomes in Schizophrenia (GENios): A within-case molecular genetic study protocol.PloS one · 2026Article
- Elevated psychiatric and substance use disorders in people with intellectual disabilities in a Swedish National Sample.Psychological medicine · 2025Article
- Article
- Genomics of schizophrenia, bipolar disorder and major depressive disorder.Nature reviews. Genetics · 2025Review
- Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.Annals of medicine · 2025Article
- Exploring Random Forest in Genetic Risk Score Construction.Genetic epidemiology · 2025Article
- Article
- Generation of induced pluripotent stem cells from 8 neurotypical individuals with elevated genetic risk for schizophrenia.Stem cell research · 2025Article
- The Psychiatric Genomics Consortium: discoveries and directions.The lancet. Psychiatry · 2025Review
37 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 1 institution in 1 country.
Sarah E BergenFrom the Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm; the Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Mass.; the Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston; the MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom; the Department of Psychiatry, Harvard Medical School, and Massachusetts General Hospital, Boston; the Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston; the Departments of Genetics and Psychiatry, University of North Carolina, Chapel Hill; the Departments of Psychiatry and Cellular and Molecular Medicine, University of California, San Diego; and the Virginia Institute for Psychiatric and Behavioral Genetics, Department of Psychiatry, Virginia Commonwealth University, Richmond.
Alexander PlonerFrom the Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm; the Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Mass.; the Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston; the MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom; the Department of Psychiatry, Harvard Medical School, and Massachusetts General Hospital, Boston; the Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston; the Departments of Genetics and Psychiatry, University of North Carolina, Chapel Hill; the Departments of Psychiatry and Cellular and Molecular Medicine, University of California, San Diego; and the Virginia Institute for Psychiatric and Behavioral Genetics, Department of Psychiatry, Virginia Commonwealth University, Richmond.
Daniel HowriganFrom the Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm; the Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Mass.; the Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston; the MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom; the Department of Psychiatry, Harvard Medical School, and Massachusetts General Hospital, Boston; the Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston; the Departments of Genetics and Psychiatry, University of North Carolina, Chapel Hill; the Departments of Psychiatry and Cellular and Molecular Medicine, University of California, San Diego; and the Virginia Institute for Psychiatric and Behavioral Genetics, Department of Psychiatry, Virginia Commonwealth University, Richmond.
CNV Analysis Group and the Schizophrenia Working Group of the Psychiatric Genomics ConsortiumFrom the Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm; the Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Mass.; the Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston; the MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom; the Department of Psychiatry, Harvard Medical School, and Massachusetts General Hospital, Boston; the Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston; the Departments of Genetics and Psychiatry, University of North Carolina, Chapel Hill; the Departments of Psychiatry and Cellular and Molecular Medicine, University of California, San Diego; and the Virginia Institute for Psychiatric and Behavioral Genetics, Department of Psychiatry, Virginia Commonwealth University, Richmond.
Michael C O'DonovanFrom the Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm; the Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Mass.; the Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston; the MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom; the Department of Psychiatry, Harvard Medical School, and Massachusetts General Hospital, Boston; the Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston; the Departments of Genetics and Psychiatry, University of North Carolina, Chapel Hill; the Departments of Psychiatry and Cellular and Molecular Medicine, University of California, San Diego; and the Virginia Institute for Psychiatric and Behavioral Genetics, Department of Psychiatry, Virginia Commonwealth University, Richmond.
Jordan W SmollerFrom the Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm; the Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Mass.; the Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston; the MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom; the Department of Psychiatry, Harvard Medical School, and Massachusetts General Hospital, Boston; the Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston; the Departments of Genetics and Psychiatry, University of North Carolina, Chapel Hill; the Departments of Psychiatry and Cellular and Molecular Medicine, University of California, San Diego; and the Virginia Institute for Psychiatric and Behavioral Genetics, Department of Psychiatry, Virginia Commonwealth University, Richmond.
Patrick F SullivanFrom the Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm; the Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Mass.; the Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston; the MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom; the Department of Psychiatry, Harvard Medical School, and Massachusetts General Hospital, Boston; the Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston; the Departments of Genetics and Psychiatry, University of North Carolina, Chapel Hill; the Departments of Psychiatry and Cellular and Molecular Medicine, University of California, San Diego; and the Virginia Institute for Psychiatric and Behavioral Genetics, Department of Psychiatry, Virginia Commonwealth University, Richmond.
Jonathan SebatFrom the Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm; the Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Mass.; the Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston; the MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom; the Department of Psychiatry, Harvard Medical School, and Massachusetts General Hospital, Boston; the Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston; the Departments of Genetics and Psychiatry, University of North Carolina, Chapel Hill; the Departments of Psychiatry and Cellular and Molecular Medicine, University of California, San Diego; and the Virginia Institute for Psychiatric and Behavioral Genetics, Department of Psychiatry, Virginia Commonwealth University, Richmond.
Benjamin NealeFrom the Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm; the Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Mass.; the Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston; the MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom; the Department of Psychiatry, Harvard Medical School, and Massachusetts General Hospital, Boston; the Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston; the Departments of Genetics and Psychiatry, University of North Carolina, Chapel Hill; the Departments of Psychiatry and Cellular and Molecular Medicine, University of California, San Diego; and the Virginia Institute for Psychiatric and Behavioral Genetics, Department of Psychiatry, Virginia Commonwealth University, Richmond.
Kenneth S KendlerFrom the Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm; the Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Mass.; the Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston; the MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom; the Department of Psychiatry, Harvard Medical School, and Massachusetts General Hospital, Boston; the Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston; the Departments of Genetics and Psychiatry, University of North Carolina, Chapel Hill; the Departments of Psychiatry and Cellular and Molecular Medicine, University of California, San Diego; and the Virginia Institute for Psychiatric and Behavioral Genetics, Department of Psychiatry, Virginia Commonwealth University, Richmond.
Broad Institute · US
Funding
5/7 Psychiatric Genomics Consortium: Finding actionable variationU01MH109514 · NIMH · CARDIFF UNIVERSITY · PI O'DONOVAN, MICHAEL · 2016 to 2020
$2.9M3/7 Psychiatric Genomics Consortium: Finding actionable variationU01MH109536 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI CHARNEY, ALEXANDER W, HUCKINS, LAURA MARIANNE · 2016 to 2020
$2.7M1/7 Psychiatric Genomics Consortium: Finding actionable variationU01MH109528 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2016 to 2020
$2.5M4/7 Psychiatric Genomics Consortium: Finding actionable variationU01MH109501 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI SEBAT, JONATHAN · 2016 to 2020
$2.0M1/4 Psychiatric GWAS Consortium: Genomic Follow-up Next-Gen Sequencing & GenotypiU01MH094421 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2012 to 2015
$1.9MNIMH NIH HHS U01 MH094421NIMH NIH HHS U01 MH109501NIMH NIH HHS U01 MH109514NIMH NIH HHS U01 MH109528NIMH NIH HHS U01 MH109536
Abstract
objectiveBoth rare copy number variants (CNVs) and common single-nucleotide polymorphisms (SNPs) contribute to liability to schizophrenia, but their etiological relationship has not been fully elucidated. The authors evaluated an additive model whereby risk of schizophrenia requires less contribution from common SNPs in the presence of a rare CNV, and tested for interactions.
methodGenetic data from 21,094 case subjects with schizophrenia and 20,227 control subjects from the Psychiatric Genomics Consortium were examined. Three classes of rare CNVs were assessed: CNVs previously associated with schizophrenia, CNVs with large deletions ≥500 kb, and total CNV burden. The mean polygenic risk scores (PRSs) between study subjects with and without rare CNVs were compared, and joint effects of PRS and CNVs on schizophrenia liability were modeled by using logistic regression.
resultsSchizophrenia case subjects carrying risk CNVs had a lower polygenic risk than case subjects without risk CNVs but a higher risk than control subjects. For case subjects carrying known risk CNVs, the PRS was diminished in proportion to the effect size of the CNV. The strongly associated 22q11.2 deletion required little added PRS to produce schizophrenia. Large deletions and increased CNV burden were also associated with lower polygenic risk in schizophrenia case subjects but not in control subjects or after removal of known risk CNV carriers.
conclusionsThe authors found evidence for interactive effects of PRS and previously associated CNVs for risk for schizophrenia, and the results for large deletions and total CNV burden support an additive model. These findings offer insights into the genetic architecture of schizophrenia by illuminating how different established genetic risk factors act and interact to influence liability to schizophrenia.
Indexed as
DNA Copy Number VariationsAdultAlgorithmsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMultifactorial InheritancePolymorphism, Single NucleotideRisk AssessmentSchizophreniaCopy Number VariationGenome-wide Association StudySchizophrenia Risk Profile ScoreStructural Variation
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