Evidence map›Paper›PMID 32719466›Full record

SynthesisMolecular psychiatry2021

Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study.

Johan H Thygesen, Amelia Presman, Jasmine Harju-Seppänen, Haritz Irizar, Rebecca Jones, Karoline Kuchenbaecker, Kuang Lin, Behrooz Z Alizadeh, Isabelle Austin-Zimmerman, Agna Bartels-Velthuis and 47 more

Open access · hybridAbstract readMeta-AnalysisSystematic Review
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. Cited by 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
3.4field-weighted citation impact, top 7% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

15 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.

  1. Pooled it
  2. Understanding Psychotic Depression.Advances in experimental medicine and biology · 2026
    Review
  3. Article
  4. Review
  5. Article
  6. Article
  7. Article
  8. The Risk for Schizophrenia-Bipolar Spectrum: Does the Apple Fall Close to the Tree? A Narrative Review.International journal of environmental research and public health · 2023
    Review
  9. Review
  10. Review
  11. Developmental Manipulation-Induced Changes in Cognitive Functioning.Current topics in behavioral neurosciences · 2023
    Article
  12. Review
  13. Child and adolescent mental health disorders in the GCC: A systematic review and meta-analysis.International journal of pediatrics & adolescent medicine · 2021
    Review
  14. Review
  15. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

57 authors at 20 institutions in 10 countries.

Johan H Thygesen *Division of Psychiatry, University College London, London, UK.ORCID http://orcid.org/0000-0002-7479-3459
Amelia Presman *Division of Psychiatry, University College London, London, UK.
Jasmine Harju-Seppänen *Division of Psychiatry, University College London, London, UK.ORCID http://orcid.org/0000-0002-9027-2119
Haritz IrizarDivision of Psychiatry, University College London, London, UK.
Rebecca JonesDivision of Psychiatry, University College London, London, UK.
Karoline KuchenbaeckerDivision of Psychiatry, University College London, London, UK.ORCID http://orcid.org/0000-0001-9726-603X
Kuang LinInstitute of Psychiatry, Psychology & Neuroscience at King's College London, London, UK.
Behrooz Z AlizadehUniversity of Groningen, University Medical Center Groningen, University Center for Psychiatry, Rob Giel Research Center, Groningen, The Netherlands.
Isabelle Austin-ZimmermanDivision of Psychiatry, University College London, London, UK.
Agna Bartels-VelthuisUniversity of Groningen, University Medical Center Groningen, University Center for Psychiatry, Rob Giel Research Center, Groningen, The Netherlands.
Anjali BhatDivision of Psychiatry, University College London, London, UK.ORCID http://orcid.org/0000-0001-8456-3668
Richard BruggemanUniversity of Groningen, University Medical Center Groningen, University Center for Psychiatry, Rob Giel Research Center, Groningen, The Netherlands.
Wiepke CahnUniversity Medical Center Utrecht, Department of Psychiatry, Brain Centre Rudolf Magnus, Utrecht University, Utrecht, The Netherlands.
Stella CalafatoDivision of Psychiatry, University College London, London, UK.
Benedicto Crespo-FacorroCIBERSAM, Centro Investigación Biomédica en Red Salud Mental, Sevilla, Spain.
Liewe de HaanAmsterdam UMC, Department of Psychiatry, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.
Sonja M C de ZwarteUniversity Medical Center Utrecht, Department of Psychiatry, Brain Centre Rudolf Magnus, Utrecht University, Utrecht, The Netherlands.
Marta Di FortiInstitute of Psychiatry, Psychology & Neuroscience at King's College London, London, UK.
Álvaro Díez-RevueltaDivision of Psychiatry, University College London, London, UK.
Jeremy HallSchool of Medicine, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, UK.ORCID http://orcid.org/0000-0002-0403-3278
Mei-Hua HallPsychosis Neurobiology Laboratory, Harvard Medical School, McLean Hospital, Belmont, MA, USA.
Conrad IyegbeInstitute of Psychiatry, Psychology & Neuroscience at King's College London, London, UK.
Assen JablenskyCentre for Clinical Research in Neuropsychiatry, The University of Western Australia, Perth, WA, Australia.
Rene KahnUniversity Medical Center Utrecht, Department of Psychiatry, Brain Centre Rudolf Magnus, Utrecht University, Utrecht, The Netherlands.ORCID http://orcid.org/0000-0001-5909-8004
Luba KalaydjievaHarry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, WA, Australia.
Eugenia KravaritiInstitute of Psychiatry, Psychology & Neuroscience at King's College London, London, UK.
Stephen LawrieDivision of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, Edinburgh, Scotland, UK.ORCID http://orcid.org/0000-0002-2444-5675
Jurjen J LuykxUniversity Medical Center Utrecht, Department of Psychiatry, Brain Centre Rudolf Magnus, Utrecht University, Utrecht, The Netherlands.ORCID http://orcid.org/0000-0002-6439-2774
Igancio MataCIBERSAM, Centro Investigación Biomédica en Red Salud Mental, Sevilla, Spain.
Colm McDonaldThe Centre for Neuroimaging & Cognitive Genomics (NICOG) and NCBES Galway Neuroscience Centre, National University of Ireland Galway, Galway, Ireland.ORCID http://orcid.org/0000-0003-1661-5192
Andrew M McIntoshDivision of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, Edinburgh, Scotland, 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
Rebecca MuirDivision of Psychiatry, University College London, London, UK.
Roel OphoffCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA.
Marco PicchioniInstitute of Psychiatry, Psychology & Neuroscience at King's College London, London, UK.
Diana P PrataInstitute of Psychiatry, Psychology & Neuroscience at King's College London, London, UK.
Siri RanlundDivision of Psychiatry, University College London, London, UK.
Dan RujescuDepartment of Psychiatry, Ludwig-Maximilians University of Munich, Munich, Germany.
Bart P F RuttenDepartment of Psychiatry & Neuropsychology, School for Mental Health and Neuroscience, Maastricht University Medical Centre, Maastricht, The Netherlands.ORCID http://orcid.org/0000-0002-9834-6346
Katja SchulzeInstitute of Psychiatry, Psychology & Neuroscience at King's College London, London, UK.
Madiha ShaikhNorth East London Foundation Trust, London, UK.
Frederike SchirmbeckAmsterdam UMC, Department of Psychiatry, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.
Claudia J P SimonsDepartment of Psychiatry & Neuropsychology, School for Mental Health and Neuroscience, Maastricht University Medical Centre, Maastricht, The Netherlands.
Timothea ToulopoulouInstitute of Psychiatry, Psychology & Neuroscience at King's College London, London, UK.
Therese van AmelsvoortDepartment of Psychiatry & Neuropsychology, School for Mental Health and Neuroscience, Maastricht University Medical Centre, Maastricht, The Netherlands.
Neeltje van HarenUniversity Medical Center Utrecht, Department of Psychiatry, Brain Centre Rudolf Magnus, Utrecht University, Utrecht, The Netherlands.
Jim van OsInstitute of Psychiatry, Psychology & Neuroscience at King's College London, London, UK.
Ruud van WinkelKU Leuven, Department of Neuroscience, Research Group Psychiatry, Leuven, Belgium.
Evangelos VassosInstitute of Psychiatry, Psychology & Neuroscience at King's College London, London, UK.ORCID http://orcid.org/0000-0001-6363-0438
Muriel WalsheDivision of Psychiatry, University College London, London, UK.
Matthias WeisbrodDepartment of General Psychiatry, Center of Psychosocial Medicine, University of Heidelberg, Heidelberg, Germany.
Eirini ZartaloudiDivision of Psychiatry, University College London, London, UK.
Vaughan BellDivision of Psychiatry, University College London, London, UK.
John PowellInstitute of Psychiatry, Psychology & Neuroscience at King's College London, London, UK.
Cathryn M LewisInstitute of Psychiatry, Psychology & Neuroscience at King's College London, London, UK.ORCID http://orcid.org/0000-0002-8249-8476
Robin M MurrayInstitute of Psychiatry, Psychology & Neuroscience at King's College London, London, UK.
Elvira BramonDivision of Psychiatry, University College London, London, UK. e.bramon@ucl.ac.uk.ORCID http://orcid.org/0000-0003-1369-5983
University College London · GBKing's College London · GBUtrecht University · NLMaastricht University Medical Centre · NLUniversity Medical Center Groningen · NLArkin · NLRoyal Edinburgh Hospital · GBThe University of Western Australia · AUBilkent University · TRCardiff University · GBCentro de Investigación Biomédica en Red de Salud Mental · ESHarvard University · USHeidelberg University · DEKU Leuven · BEMartin Luther University Halle-Wittenberg · DENorth East London NHS Foundation Trust · GBOllscoil na Gaillimhe – University of Galway · IEUniversidad Complutense de Madrid · ESUniversidad de Cantabria · ESUniversity of California, Los Angeles · US

Funding

Department of Health PDF-2010-03-047Medical Research Council G0901310Medical Research Council MC_PC_16014Medical Research Council MR/L010305/1Wellcome TrustWellcome Trust 085475/B/08/ZWellcome Trust (Wellcome) 085475/Z/08/ZWellcome Trust (Wellcome) 200589/Z/16/Z
6 · The paper itself

Abstract

The burden of large and rare copy number genetic variants (CNVs) as well as certain specific CNVs increase the risk of developing schizophrenia. Several cognitive measures are purported schizophrenia endophenotypes and may represent an intermediate point between genetics and the illness. This paper investigates the influence of CNVs on cognition. We conducted a systematic review and meta-analysis of the literature exploring the effect of CNV burden on general intelligence. We included ten primary studies with a total of 18,847 participants and found no evidence of association. In a new psychosis family study, we investigated the effects of CNVs on specific cognitive abilities. We examined the burden of large and rare CNVs (>200 kb, <1% MAF) as well as known schizophrenia-associated CNVs in patients with psychotic disorders, their unaffected relatives and controls (N = 3428) from the Psychosis Endophenotypes International Consortium (PEIC). The carriers of specific schizophrenia-associated CNVs showed poorer performance than non-carriers in immediate (P = 0.0036) and delayed (P = 0.0115) verbal recall. We found suggestive evidence that carriers of schizophrenia-associated CNVs had poorer block design performance (P = 0.0307). We do not find any association between CNV burden and cognition. Our findings show that the known high-risk CNVs are not only associated with schizophrenia and other neurodevelopmental disorders, but are also a contributing factor to impairment in cognitive domains such as memory and perceptual reasoning, and act as intermediate biomarkers of disease risk.

Indexed as

Psychotic DisordersSchizophreniaCognitionDNA Copy Number VariationsGenetic Predisposition to DiseaseGenome-Wide Association StudyHumans

Identifiers

PMID32719466
PMCPMC8589646
OpenAlexW3044950964

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.