ArticleMolecular psychiatry2014
Evidence that duplications of 22q11.2 protect against schizophrenia.
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Article in Molecular psychiatry, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 80 papers, 2 of them syntheses that pooled it.
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80citing papers in PubMed, 2 pooled it
6.7field-weighted citation impact, top 2% of its field
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Who cites it
80 citing papers in PubMed, 2 syntheses or guidelines pooled it, 188 citations in OpenAlex.
- Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study.Molecular psychiatry · 2021Pooled it
- Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders.Genome medicine · 2017Pooled it
- Striatal dopaminergic function and cortical functional connectivity in 22q11.2 deletion syndrome: an integrative multimodalMolecular psychiatry · 2026Article
- Gene dosage effects of 22q11.2 copy number variants on in-vivo measures of white matter axonal density and dispersion.Molecular psychiatry · 2026Article
- Genetics to Improve Outcomes in Schizophrenia (GENios): A within-case molecular genetic study protocol.PloS one · 2026Article
- Genomics of schizophrenia, bipolar disorder and major depressive disorder.Nature reviews. Genetics · 2025Review
- Neurological Insights into 16p11.2- And 22q11.2-Related Disorders: A Mini-Review.Current genomics · 2025Review
- Cell line specific alterations in genes associated with dopamine metabolism and signaling in midbrain dopaminergic neurons derived from 22q11.2 deletion carriers with elevated dopamine synthesis capacity.Schizophrenia research · 2024Article
- Effects of gene dosage and development on subcortical nuclei volumes in individuals with 22q11.2 copy number variations.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2024Article
- Distinct neurocognitive profiles and clinical phenotypes associated with copy number variation at the 22q11.2 locus.Autism research : official journal of the International Society for Autism Research · 2023Article
- Associations between acute and chronic lifetime stressors and psychosis-risk symptoms in individuals with 22q11.2 copy number variants.Psychological medicine · 2023Article
- Effects of Gene Dosage and Development on Subcortical Nuclei Volumes in Individuals with 22q11.2 Copy Number Variations.bioRxiv : the preprint server for biology · 2023Article
- Copy Number Variations in Neuropsychiatric Disorders.International journal of molecular sciences · 2023Review
- Genomic findings in schizophrenia and their implications.Molecular psychiatry · 2023Review
- Distinct Neurocognitive Profiles and Clinical Phenotypes Associated with Copy Number Variation at the 22q11.2 Locus.medRxiv : the preprint server for health sciences · 2023Article
- Striatal dopaminergic alterations in individuals with copy number variants at the 22q11.2 genetic locus and their implications for psychosis risk: a [18F]-DOPA PET study.Molecular psychiatry · 2023Article
- Brain functional connectivity mirrors genetic pleiotropy in psychiatric conditions.Brain : a journal of neurology · 2023Article
- Genome-wide copy number variant screening of Saudi schizophrenia patients reveals larger deletions in cases versus controls.Frontiers in molecular neuroscience · 2023Article
- Genetic Heterogeneity Shapes Brain Connectivity in Psychiatry.Biological psychiatry · 2023Article
- Longitudinal trajectories of cortical development in 22q11.2 copy number variants and typically developing controls.Molecular psychiatry · 2022Article
20 more citing papers are in PubMed but not listed here.
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Authors and funding
37 authors at 12 institutions in 4 countries.
E ReesMRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
G KirovMRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
A Sanders1] Department of Psychiatry and Behavioral Sciences, NorthShore University HealthSystem, Evanston, IL, USA [2] Department of Psychiatry and Behavioral Sciences, University of Chicago, Chicago, IL, USA.
J T R WaltersMRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
K D ChambertStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, MA, USA.
J ShiBiostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
J SzatkiewiczDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
C O'DushlaineStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, MA, USA.
A L RichardsMRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
E K Green1] MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK [2] School of Biomedical and Biological Sciences, Plymouth University, Plymouth, UK.
I JonesMRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
G DaviesMRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
S E LeggeMRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
J L MoranStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, MA, USA.
C PatoDepartment of Psychiatry and Behavioral Science, Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, CA, USA.
M PatoDepartment of Psychiatry and Behavioral Science, Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, CA, USA.
G GenoveseStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, MA, USA.
D LevinsonDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.
J Duan1] Department of Psychiatry and Behavioral Sciences, NorthShore University HealthSystem, Evanston, IL, USA [2] Department of Psychiatry and Behavioral Sciences, University of Chicago, Chicago, IL, USA.
W MoyDepartment of Psychiatry and Behavioral Sciences, NorthShore University HealthSystem, Evanston, IL, USA.
H H H GöringDepartment of Genetics, Texas Biomedical Research Institute, San Antonio, TX, USA.
D MorrisDepartment of Psychiatry and Neuropsychiatric Genetics Research Group, Institute of Molecular Medicine, Trinity College Dublin, Dublin 2, Ireland.
P CormicanDepartment of Psychiatry and Neuropsychiatric Genetics Research Group, Institute of Molecular Medicine, Trinity College Dublin, Dublin 2, Ireland.
K S KendlerDepartment of Psychiatry and Human Genetics, Virginia Institute of Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, VA, USA.
F A O'NeillDepartment of Psychiatry, Queen's University, Belfast, Northern Ireland.
B RileyDepartment of Psychiatry and Human Genetics, Virginia Institute of Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, VA, USA.
M GillDepartment of Psychiatry and Neuropsychiatric Genetics Research Group, Institute of Molecular Medicine, Trinity College Dublin, Dublin 2, Ireland.
A CorvinDepartment of Psychiatry and Neuropsychiatric Genetics Research Group, Institute of Molecular Medicine, Trinity College Dublin, Dublin 2, Ireland.
Wellcome Trust Case Control Consortium
N CraddockMRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
P SklarDivision of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
C HultmanDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Karolinska, Sweden.
P F Sullivan1] Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA [2] Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden [3] Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
P V Gejman1] Department of Psychiatry and Behavioral Sciences, NorthShore University HealthSystem, Evanston, IL, USA [2] Department of Psychiatry and Behavioral Sciences, University of Chicago, Chicago, IL, USA.
S A McCarrollStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, MA, USA.
M C O'DonovanMRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
M J OwenMRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Cardiff University · GBBroad Institute · USTrinity College Dublin · IEVirginia Commonwealth University · USIcahn School of Medicine at Mount Sinai · USKarolinska Institutet · SENational Cancer Institute · USNorthShore University HealthSystem · USQueen's University Belfast · GBStanford University · USTexas Biomedical Research Institute · USUniversity of North Carolina at Chapel Hill · US
Funding
Targeting the p53 pathway for reversal of oral premalignancyP50CA097007 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI MYERS, JEFFREY NICHOLAS · 2002 to 2012
$26.1MUT M.D. Anderson Cancer Center SPORE in MelanomaP50CA093459 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI GRIMM, ELIZABETH A · 2004 to 2014
$23.7MThe Collaborative Genetic Study of Nicotine DependenceP01CA089392 · NCI · WASHINGTON UNIVERSITY · PI BIERUT, LAURA J. · 2001 to 2012
$17.3MGenomic Psychiatry CohortR01MH085548 · NIMH · UNIVERSITY OF SOUTHERN CALIFORNIA · PI PATO, CARLOS N, PATO, MICHELE T · 2008 to 2012
$16.3MA Large-Scale Schizophrenia Association Study in SwedenR01MH077139 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2007 to 2018
$9.9MRELAPSE: LINKING SCIENCE AND PRACTICEP50CA084724 · NCI · UNIVERSITY OF WISCONSIN MADISON · PI FIORE, MICHAEL C · 1999 to 2003
$8.9MTobacco Dependence: Treatment and OutcomesP50DA019706 · NIDA · UNIVERSITY OF WISCONSIN-MADISON · PI JACKSON, THOMAS C · 2004 to 2008
$8.6MGenome Wide Association Coordinating CenterU01HG004446 · NHGRI · UNIVERSITY OF WASHINGTON · PI WEIR, BRUCE S. · 2007 to 2011
$6.6MMolecular Epidemiology of Head and Neck CancerR01ES011740 · NIEHS · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI WEI, QINGYI · 2001 to 2012
$6.3MTHE GENETIC EPIDEMIOLOGY OF SCHIZOPHRENIA IN IRELANDR01MH041953 · NIMH · VIRGINIA COMMONWEALTH UNIVERSITY · PI KENDLER, KENNETH SEEDMAN · 1987 to 2008
$5.2M2/2 Large-Scale Genetic Studies of Schizophrenia in SwedenR01MH095034 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI STAHL, ELI A · 2012 to 2019
$3.6MA genome-wide association study of schizophrenia in IrelandR01MH083094 · NIMH · VIRGINIA COMMONWEALTH UNIVERSITY · PI RILEY, BRIEN P · 2008 to 2011
$3.5MMedical Research Council G0601635Medical Research Council G0800509Medical Research Council G0801418Medical Research Council MR/L010305/1NCI NIH HHS 3P50CA093459NCI NIH HHS 5P50CA097007NCI NIH HHS 5R01CA133996NCI NIH HHS P01 CA089392NCI NIH HHS P50 CA084724NCI NIH HHS P50 CA093459NCI NIH HHS P50 CA097007NCI NIH HHS R01 CA133996NEI NIH HHS R01 EY020483NHGRI NIH HHS HHSN268200782096CNHGRI NIH HHS U01 HG004446NIDA NIH HHS P50 DA019706NIEHS NIH HHS 5R01ES011740NIEHS NIH HHS R01 ES011740NIMH NIH HHS K01 MH093517NIMH NIH HHS MH083094NIMH NIH HHS MH 41953NIMH NIH HHS R01 MH041953NIMH NIH HHS R01 MH077139NIMH NIH HHS R01 MH083094NIMH NIH HHS R01 MH085548NIMH NIH HHS R01 MH094091NIMH NIH HHS R01MH094091NIMH NIH HHS R01 MH095034NIMH NIH HHS RC2 MH090030NIMH NIH HHS RC2MH090030NIMH NIH HHS U01 MH094421Wellcome Trust 072894/Z/03/ZWellcome Trust 075491/Z/04/BWellcome Trust 085475/B/08/ZWellcome Trust 085475/Z/08/ZWellcome Trust 090532/Z/09/Z
Abstract
A number of large, rare copy number variants (CNVs) are deleterious for neurodevelopmental disorders, but large, rare, protective CNVs have not been reported for such phenotypes. Here we show in a CNV analysis of 47 005 individuals, the largest CNV analysis of schizophrenia to date, that large duplications (1.5-3.0 Mb) at 22q11.2--the reciprocal of the well-known, risk-inducing deletion of this locus--are substantially less common in schizophrenia cases than in the general population (0.014% vs 0.085%, OR=0.17, P=0.00086). 22q11.2 duplications represent the first putative protective mutation for schizophrenia.
Indexed as
Genetic Predisposition to DiseaseAbnormalities, MultipleChromosome DuplicationChromosomes, Human, Pair 22DiGeorge SyndromeDNA Copy Number VariationsFemaleHumansMaleSchizophrenia
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