ArticleAmerican journal of human genetics2002
Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 280 papers, 7 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
280 citing papers in PubMed, 7 syntheses or guidelines pooled it, 836 citations in OpenAlex.
- Evaluating historical candidate genes for schizophrenia.Molecular psychiatry · 2015Pooled it
- GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia.Molecular psychiatry · 2011Pooled it
- Meta-analysis of genetic variation in DTNBP1 and general cognitive ability.Biological psychiatry · 2010Pooled it
- Allelic heterogeneity in genetic association meta-analysis: an application to DTNBP1 and schizophrenia.Human heredity · 2010Pooled it
- The dystrobrevin-binding protein 1 gene: features and networks.Molecular psychiatry · 2009Pooled it
- New genes associated with schizophrenia in neurite formation: a review of cell culture experiments.Molecular psychiatry · 2007Pooled it
- Evaluation of a susceptibility gene for schizophrenia: genotype based meta-analysis of RGS4 polymorphisms from thirteen independent samples.Biological psychiatry · 2006Pooled it
- The efficacies of clozapine and haloperidol in refractory schizophrenia are related to DTNBP1 variation.Pharmacogenetics and genomics · 2009Trial
- Genomewide association for schizophrenia in the CATIE study: results of stage 1.Molecular psychiatry · 2008Trial
- Genetic dissection of theMolecular biology of the cell · 2025Article
- The role of dystrophin isoforms and interactors in the brain.Brain : a journal of neurology · 2025Review
- Adolescent Stress-Induced Ventral Hippocampus Redox Dysregulation Underlies Behavioral Deficits and Excitatory/Inhibitory Imbalance Related to Schizophrenia.Schizophrenia bulletin · 2025Article
- Exact box-counting and temporal sampling algorithms for fractal dimension estimation with applications to animal behavior analysis.Results in engineering · 2025Article
- Engine breakdown of lysosomes and related organelles and the resulting physiology.Frontiers in cell and developmental biology · 2025Review
- Dysbindin-1 Mutation Alters Prefrontal Cortex Extracellular Glutamate and Dopamine In Vivo.International journal of molecular sciences · 2024Article
- Impact of cannabinoids on synapse markers in an SH-SY5Y cell culture model.Schizophrenia (Heidelberg, Germany) · 2024Article
- Sex dimorphism controls dysbindin-related cognitive dysfunctions in mice and humans with the contribution of COMT.Molecular psychiatry · 2024Article
- Emergence of Extracellular Vesicles as "Liquid Biopsy" for Neurological Disorders: Boom or Bust.Pharmacological reviews · 2024Review
- Synaptic plasticity in schizophrenia pathophysiology.IBRO neuroscience reports · 2023Article
- The thalamus in psychosis spectrum disorder.Frontiers in neuroscience · 2023Article
220 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
16 authors at 3 institutions in 4 countries.
Funding
Abstract
Prior evidence has supported the existence of multiple susceptibility genes for schizophrenia. Multipoint linkage analysis of the 270 Irish high-density pedigrees that we have studied, as well as results from several other samples, suggest that at least one such gene is located in region 6p24-21. In the present study, family-based association analysis of 36 simple sequence-length-polymorphism markers and of 17 SNP markers implicated two regions, separated by approximately 7 Mb. The first region, and the focus of this report, is 6p22.3. In this region, single-nucleotide polymorphisms within the 140-kb gene DTNBP1 (dystrobrevin-binding protein 1, or dysbindin) are strongly associated with schizophrenia. Uncorrected, empirical P values produced by the program TRANSMIT were significant (P<.01) for a number of individual SNP markers, and most remained significant when the data were restricted to include only one affected offspring per nuclear family per extended pedigree; multiple three-marker haplotypes were highly significant (P=.008-.0001) under the restricted conditions. The pattern of linkage disequilibrium is consistent with the presence of more than one susceptibility allele, but this important issue is unresolved. The number of markers tested in the adjacent genes, all of which are negative, is not sufficient to rule out the possibility that the dysbindin gene is not the actual susceptibility gene, but this possibility appears to be very unlikely. We conclude that further investigation of dysbindin is warranted.
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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.