ArticleHuman molecular genetics2009
Disruption of the neurexin 1 gene is associated with schizophrenia.
Article in Human molecular genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 231 papers, 5 of them syntheses that pooled it.
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Who cites it
231 citing papers in PubMed, 5 syntheses or guidelines pooled it, 485 citations in OpenAlex.
- Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.Biological 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
- Pooled it
- Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities.Genetics in medicine : official journal of the American College of Medical Genetics · 2010Guideline
- A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia.Human molecular genetics · 2010Pooled it
- Gene editing in "cell villages" enables exploring disease-relevant mutations in many genetic backgrounds.bioRxiv : the preprint server for biology · 2025Article
- The neurexin gene family regulates olfactory glomerular formation.Cell reports · 2025Article
- Neurexin1α knockout in rats causes aberrant social behaviour: relevance for autism and schizophrenia.Psychopharmacology · 2025Article
- Genome-wide copy number variation association study in anorexia nervosa.Molecular psychiatry · 2025Article
- Circular RNAs in neurological conditions - computational identification, functional validation, and potential clinical applications.Molecular psychiatry · 2025Review
- Astrocytic-supplied cholesterol drives synaptic gene expression programs in developing neurons and downstream astrocytic transcriptional programs.bioRxiv : the preprint server for biology · 2025Article
- Alpha-neurexins in health and disease.Frontiers in molecular neuroscience · 2025Review
- Analysis of exonic deletions in a large population study provides novel insights into NRXN1 pathology.NPJ genomic medicine · 2024Article
- Article
- Bayesian Rare Variant Analysis Identifies Novel Schizophrenia Putative Risk Genes.Journal of personalized medicine · 2024Article
- Landscape ofJournal of clinical medicine · 2024Review
- Article
- Exploration of neuron heterogeneity in human heart failure with dilated cardiomyopathy through single-cell RNA sequencing analysis.BMC cardiovascular disorders · 2024Article
- Concerted neuron-astrocyte gene expression declines in aging and schizophrenia.bioRxiv : the preprint server for biology · 2024Article
- Astrocytic cell adhesion genes linked to schizophrenia correlate with synaptic programs in neurons.Cell reports · 2023Article
171 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
53 authors at 17 institutions in 10 countries.
Funding
Abstract
Deletions within the neurexin 1 gene (NRXN1; 2p16.3) are associated with autism and have also been reported in two families with schizophrenia. We examined NRXN1, and the closely related NRXN2 and NRXN3 genes, for copy number variants (CNVs) in 2977 schizophrenia patients and 33 746 controls from seven European populations (Iceland, Finland, Norway, Germany, The Netherlands, Italy and UK) using microarray data. We found 66 deletions and 5 duplications in NRXN1, including a de novo deletion: 12 deletions and 2 duplications occurred in schizophrenia cases (0.47%) compared to 49 and 3 (0.15%) in controls. There was no common breakpoint and the CNVs varied from 18 to 420 kb. No CNVs were found in NRXN2 or NRXN3. We performed a Cochran-Mantel-Haenszel exact test to estimate association between all CNVs and schizophrenia (P = 0.13; OR = 1.73; 95% CI 0.81-3.50). Because the penetrance of NRXN1 CNVs may vary according to the level of functional impact on the gene, we next restricted the association analysis to CNVs that disrupt exons (0.24% of cases and 0.015% of controls). These were significantly associated with a high odds ratio (P = 0.0027; OR 8.97, 95% CI 1.8-51.9). We conclude that NRXN1 deletions affecting exons confer risk 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.