ArticleHuman genetics2006
A complete genetic association scan of the 22q11 deletion region and functional evidence reveal an association between DGCR2 and schizophrenia.
Article in Human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 49 citations in OpenAlex.
- Roles of NRXN1 in neuropsychiatric disorders: from genetic lesion to molecular mechanism.Frontiers in neuroscience · 2026Review
- A Paradigmatic Case of Genetic Overlap Between Neurodevelopment Disorders and Schizophrenia Aligning with the Neurodevelopmental Continuum Hypothesis.International journal of molecular sciences · 2025Article
- DiGeorge syndrome critical region gene 2 (DGCR2), a schizophrenia risk gene, regulates dendritic spine development through cell adhesion.Cell & bioscience · 2023Article
- Transcriptomic underpinnings of high and low mirror aggression zebrafish behaviours.BMC biology · 2022Article
- Motor Stereotypic Behavior Was Associated With Immune Response in Macaques: Insight From Transcriptome and Gut Microbiota Analysis.Frontiers in microbiology · 2021Article
- Gene expression over the course of schizophrenia: from clinical high-risk for psychosis to chronic stages.NPJ schizophrenia · 2019Article
- Genetic assessment of additional endophenotypes from the Consortium on the Genetics of Schizophrenia Family Study.Schizophrenia research · 2016Review
- Novel combination markers for predicting survival in patients with muscle invasive bladder cancer: USP18 and DGCR2.Journal of Korean medical science · 2014Article
- Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation.Human genetics · 2013Article
- Analysis of 94 candidate genes and 12 endophenotypes for schizophrenia from the Consortium on the Genetics of Schizophrenia.The American journal of psychiatry · 2011Article
- Supportive evidence for reduced expression of GNB1L in schizophrenia.Schizophrenia bulletin · 2010Article
- A Hybrid Machine Learning Method for Fusing fMRI and Genetic Data: Combining both Improves Classification of Schizophrenia.Frontiers in human neuroscience · 2010Article
- Detection of disease-associated deletions in case-control studies using SNP genotypes with application to rheumatoid arthritis.Human genetics · 2009Article
- Genomic sister-disorders of neurodevelopment: an evolutionary approach.Evolutionary applications · 2009Article
- Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes.Molecular and cellular neurosciences · 2008Article
- Schizophrenia and 22q11.2 deletion syndrome.Current psychiatry reports · 2008Review
- Genome-wide association identifies a common variant in the reelin gene that increases the risk of schizophrenia only in women.PLoS genetics · 2008Article
- Analyses of the associations between the genes of 22q11 deletion syndrome and schizophrenia.Journal of human genetics · 2006Review
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Several lines of evidence have established the presence of an association between a 3-Mb deletion in chromosome 22q11 and schizophrenia. In this paper we present a complete high-density SNP scan of this segment using DNA pools, and demonstrate significant association between two distinct regions and schizophrenia in an Ashkenazi Jewish population. One of these regions contains the previously identified COMT gene. The pattern of association and linkage disequilibrium (LD) in the second region suggest that DGCR2, which encodes a putative adhesion receptor protein, is the susceptibility gene. We confirmed the association between DGCR2 and schizophrenia through individual genotyping of 1,400 subjects. In a gene expression analysis the risk allele of a coding SNP associated with schizophrenia was found to be associated with a reduced expression of DGCR2. Interestingly, the expression of DGCR2 was also found to be elevated in the dorsolateral prefrontal cortex of schizophrenic patients relative to matched controls. This increase is likely to be explained by exposure to antipsychotic drugs. To test that hypothesis, we looked at rats exposed to antipsychotic medication and found significantly elevated levels of DGCR2 transcripts. The genetic and functional evidences here reported suggest a possible role of the DGCR2 gene in the pathology of schizophrenia and also in the therapeutic effects of antipsychotic drugs.
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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.