ArticleThe American journal of psychiatry2011
Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications.
Article in The American journal of psychiatry, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 244 papers, 12 of them syntheses that pooled it.
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Who cites it
244 citing papers in PubMed, 12 syntheses or guidelines pooled it, 439 citations in OpenAlex.
- Contribution of copy number variants to schizophrenia in East Asian populations.Nature genetics · 2026Pooled it
- Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study.Molecular psychiatry · 2021Pooled it
- Genome-wide Burden of Rare Short Deletions Is Enriched in Major Depressive Disorder in Four Cohorts.Biological psychiatry · 2019Pooled it
- Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review.Journal of psychiatry & neuroscience : JPN · 2018Pooled it
- Analyzing the Role of MicroRNAs in Schizophrenia in the Context of Common Genetic Risk Variants.JAMA psychiatry · 2016Pooled it
- The 3q29 deletion confers >40-fold increase in risk for schizophrenia.Molecular psychiatry · 2015Pooled it
- Evaluating historical candidate genes for schizophrenia.Molecular psychiatry · 2015Pooled it
- Systematic prioritization and integrative analysis of copy number variations in schizophrenia reveal key schizophrenia susceptibility genes.Schizophrenia bulletin · 2014Pooled it
- Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.Biological psychiatry · 2014Pooled it
- Molecular genetic evidence for overlap between general cognitive ability and risk for schizophrenia: a report from the Cognitive Genomics consorTium (COGENT).Molecular psychiatry · 2014Pooled it
- Distribution of disease-associated copy number variants across distinct disorders of cognitive development.Journal of the American Academy of Child and Adolescent Psychiatry · 2013Pooled it
- 1q21.1 Microduplication expression in adults.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Pooled it
- Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene.Biological psychiatry · 2019Trial
- De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes.European journal of human genetics : EJHG · 2019Trial
- Higher frequencies of CNV deletions in bipolar disorder among Chinese Population.Molecular psychiatry · 2026Article
- Vipr2 Gene Expression Is Upregulated in the Nucleus Accumbens of Spontaneous Hypertensive Rats During Early Life.Neuropsychopharmacology reports · 2026Article
- The ketogenic diet alleviates neuronal ferroptosis in epilepsy via HDAC4/TFRC signalling.Archives of medical science : AMS · 2026Article
- Mutations of schizophrenia risk gene SETD1A dysregulate synaptic function in human neurons.Molecular psychiatry · 2025Article
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Authors and funding
24 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTo evaluate previously reported associations of copy number variants (CNVs) with schizophrenia and to identify additional associations, the authors analyzed CNVs in the Molecular Genetics of Schizophrenia study (MGS) and additional available data.
methodAfter quality control, MGS data for 3,945 subjects with schizophrenia or schizoaffective disorder and 3,611 screened comparison subjects were available for analysis of rare CNVs (<1% frequency). CNV detection thresholds were chosen that maximized concordance in 151 duplicate assays. Pointwise and genewise analyses were carried out, as well as analyses of previously reported regions. Selected regions were visually inspected and confirmed with quantitative polymerase chain reaction.
resultsIn analyses of MGS data combined with other available data sets, odds ratios of 7.5 or greater were observed for previously reported deletions in chromosomes 1q21.1, 15q13.3, and 22q11.21, duplications in 16p11.2, and exon-disrupting deletions in NRXN1. The most consistently supported candidate associations across data sets included a 1.6-Mb deletion in chromosome 3q29 (21 genes, TFRC to BDH1) that was previously described in a mild-moderate mental retardation syndrome, exonic duplications in the gene for vasoactive intestinal peptide receptor 2 (VIPR2), and exonic duplications in C16orf72. The case subjects had a modestly higher genome-wide number of gene-containing deletions (>100 kb and >1 Mb) but not duplications.
conclusionsThe data strongly confirm the association of schizophrenia with 1q21.1, 15q13.3, and 22q11.21 deletions, 16p11.2 duplications, and exonic NRXN1 deletions. These CNVs, as well as 3q29 deletions, are also associated with mental retardation, autism spectrum disorders, and epilepsy. Additional candidate genes and regions, including VIPR2, were identified. Study of the mechanisms underlying these associations should shed light on the pathophysiology of schizophrenia.
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