ArticleProceedings of the National Academy of Sciences of the United States of America2010
Strong synaptic transmission impact by copy number variations in schizophrenia.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 129 papers, 7 of them syntheses that pooled it.
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Who cites it
129 citing papers in PubMed, 7 syntheses or guidelines pooled it, 239 citations in OpenAlex.
- Investigating the shared genetic architecture between schizophrenia and body mass index.Molecular psychiatry · 2023Pooled it
- Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders.Translational psychiatry · 2021Pooled it
- Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders.Genome medicine · 2017Pooled it
- Systematic prioritization and integrative analysis of copy number variations in schizophrenia reveal key schizophrenia susceptibility genes.Schizophrenia bulletin · 2014Pooled it
- GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus.Scientific reports · 2013Pooled it
- 1q21.1 Microduplication expression in adults.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Pooled 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
- Effect of parental age on treatment response in adolescents with schizophrenia.Schizophrenia research · 2013Trial
- The Molecular Machinery of Synaptic Plasticity and Its Potential Role in the Aetiology of Schizophrenia.Molecular neurobiology · 2026Review
- Review
- Mapping corpus callosum architecture: developmental, genetic, and cognitive correlates in youth.bioRxiv : the preprint server for biology · 2026Article
- How copy number variations shape brain developmental disorders: Unraveling the synaptic puzzle.Psychiatry and clinical neurosciences · 2026Review
- Analyses of GWAS and Sub-Threshold Loci Lead to the Discovery of Dendrite Development and Morphology Dysfunction Underlying Schizophrenia Genetic Risk.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Mediating Role of Trauma Connecting Psychiatric Family History and Adolescent Mental Health.Biological psychiatry global open science · 2025Article
- Thyroid Hormone Dynamics and DIO2 Variants in Schizophrenia: Exploring Genetic Links to Neuroendocrine Imbalance.Journal of cellular and molecular medicine · 2025Article
- HORNET: tools to find genes with causal evidence and their regulatory networks using eQTLs.Bioinformatics advances · 2025Article
- Single-cell multi-cohort dissection of the schizophrenia transcriptome.Science (New York, N.Y.) · 2024Article
- A Demographic-Conditioned Variational Autoencoder for fMRI Distribution Sampling and Removal of Confounds.ArXiv · 2024Article
- Silencing Parkinson's risk allele Rit2 sex-specifically compromises motor function and dopamine neuron viability.NPJ Parkinson's disease · 2024Article
- Morphogenetic theory of mental and cognitive disorders: the role of neurotrophic and guidance molecules.Frontiers in molecular neuroscience · 2024Review
69 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
28 authors at 6 institutions in 3 countries.
Funding
Abstract
Schizophrenia is a psychiatric disorder with onset in late adolescence and unclear etiology characterized by both positive and negative symptoms, as well as cognitive deficits. To identify copy number variations (CNVs) that increase the risk of schizophrenia, we performed a whole-genome CNV analysis on a cohort of 977 schizophrenia cases and 2,000 healthy adults of European ancestry who were genotyped with 1.7 million probes. Positive findings were evaluated in an independent cohort of 758 schizophrenia cases and 1,485 controls. The Gene Ontology synaptic transmission family of genes was notably enriched for CNVs in the cases (P = 1.5 x 10(-7)). Among these, CACNA1B and DOC2A, both calcium-signaling genes responsible for neuronal excitation, were deleted in 16 cases and duplicated in 10 cases, respectively. In addition, RET and RIT2, both ras-related genes important for neural crest development, were significantly affected by CNVs. RET deletion was exclusive to seven cases, and RIT2 deletions were overrepresented common variant CNVs in the schizophrenia cases. Our results suggest that novel variations involving the processes of synaptic transmission contribute to the genetic susceptibility of schizophrenia.
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Registered trials
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.