ReviewThe American journal of psychiatry2010
Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease.
Review in The American journal of psychiatry, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 96 papers, 4 of them syntheses that pooled it.
What it found
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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.
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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.
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Who cites it
96 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Which Methodological Practice(s) for Psychotherapy Science? A Systematic Review and a Proposal.Integrative psychological & behavioral science · 2020Pooled it
- Systematic prioritization and integrative analysis of copy number variations in schizophrenia reveal key schizophrenia susceptibility genes.Schizophrenia bulletin · 2014Pooled it
- 1q21.1 Microduplication expression in adults.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Pooled it
- BCL9 and C9orf5 are associated with negative symptoms in schizophrenia: meta-analysis of two genome-wide association studies.PloS one · 2013Pooled it
- Increased paternal age and the influence on burden of genomic copy number variation in the general population.Human genetics · 2013Trial
- Permissive and instructive causality: integrating biological and environmental factors in mental health.Psychological medicine · 2026Review
- Review
- Clinical study of single nucleotide polymorphism-based chromosome microarray analysis in the etiological diagnosis of fetal congenital heart disease.Scientific reports · 2025Article
- Psychopharmacology in children with genetic disorders of epigenetic and chromatin regulation.Journal of neurodevelopmental disorders · 2025Article
- Modeling common and rare genetic risk factors of neuropsychiatric disorders in human induced pluripotent stem cells.Schizophrenia research · 2024Review
- Clinically Relevant Genetic Considerations for Patients With Tetralogy of Fallot.CJC pediatric and congenital heart disease · 2023Review
- Copy Number Variations in Neuropsychiatric Disorders.International journal of molecular sciences · 2023Review
- Article
- Paternal age and specific neurological soft signs as reliable and valid neurobiological markers for the diagnosis of patients with schizophrenia.European archives of psychiatry and clinical neuroscience · 2022Article
- Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neurons.American journal of human genetics · 2022Article
- Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology.The American journal of psychiatry · 2022Review
- Editorial: Cross-disorder Genetics in Neuropsychiatry.Frontiers in neuroscience · 2022Article
- Transcriptomic networks implicate neuronal energetic abnormalities in three mouse models harboring autism and schizophrenia-associated mutations.Molecular psychiatry · 2021Article
- Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome.Current psychiatry reports · 2021Review
- Separable neural mechanisms for the pleiotropic association of copy number variants with neuropsychiatric traits.Translational psychiatry · 2020Article
36 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
Abstract
objectiveStructural variations of DNA, such as copy number variations (CNVs), are recognized to contribute both to normal genomic variability and to risk for human diseases. For example, schizophrenia has an established connection with 22q11.2 deletions. Recent genome-wide studies have provided initial evidence that CNVs at other loci may also be associated with schizophrenia. In this article, the authors provide a brief overview of CNVs, review recent findings related to schizophrenia, outline implications for clinical practice and diagnostic subtyping, and make recommendations for future reports on CNVs to improve interpretation of results.
methodThe review included genome-wide surveys of CNVs in schizophrenia that included one or more comparison groups, were published before 2009, and used newer methods. Six studies were identified.
resultsDespite some limitations, these initial genome-wide studies of CNVs provide replicated associations of schizophrenia with rare 1q21.1 and 15q13.3 deletions. Collectively, the results point to a more general mutational mechanism involving rare CNVs that elevate risk for schizophrenia, especially more developmental forms of the disease. Including 22q11.2 deletions, rare risk-associated CNVs appear to account for up to 2% of schizophrenia.
conclusionsThe more penetrant CNVs have direct implications for clinical practice and diagnostic subtyping. CNVs with lower penetrance promise to contribute to our genetic understanding of pathogenesis. The findings provide insight into a broader neuropsychiatric spectrum for schizophrenia than previously conceived and indicate new directions for genetic studies.
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