ArticleBiological psychiatry2011
Copy number variants for schizophrenia and related psychotic disorders in Oceanic Palau: risk and transmission in extended pedigrees.
Article in Biological psychiatry, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 34 citations in OpenAlex.
- Role of cryptic rearrangements of human chromosomes in the aetiology of schizophrenia.Journal of genetics · 2023Article
- Clinical relevance and therapeutic potential of IL-38 in immune and non-immune-related disordersEuropean cytokine network · 2022Review
- Gene Expression in Patient-Derived Neural Progenitors Implicates WNT5A Signaling in the Etiology of Schizophrenia.Biological psychiatry · 2020Article
- RBFOX1, encoding a splicing regulator, is a candidate gene for aggressive behavior.European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology · 2020Review
- Loss of SETDB1 decompacts the inactive X chromosome in part through reactivation of an enhancer in the IL1RAPL1 gene.Epigenetics & chromatin · 2018Article
- Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.The American journal of psychiatry · 2017Article
- Analysis of Shared Haplotypes amongst Palauans Maps Loci for Psychotic Disorders to 4q28 and 5q23-q31.Molecular neuropsychiatry · 2017Article
- New discoveries in schizophrenia genetics reveal neurobiological pathways: A review of recent findings.European journal of medical genetics · 2015Review
- Characterization of a Novel Mutation in SLC1A1 Associated with Schizophrenia.Molecular neuropsychiatry · 2015Article
- Characterizing runs of homozygosity and their impact on risk for psychosis in a population isolate.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2014Article
- MicroRNA Dysregulation, Gene Networks, and Risk for Schizophrenia in 22q11.2 Deletion Syndrome.Frontiers in neurology · 2014Article
- Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.Human molecular genetics · 2013Article
- Protein tyrosine phosphatases PTPδ, PTPσ, and LAR: presynaptic hubs for synapse organization.Trends in neurosciences · 2013Review
- The emerging spectrum of allelic variation in schizophrenia: current evidence and strategies for the identification and functional characterization of common and rare variants.Molecular psychiatry · 2013Review
- Development-related alternative splicing of PAC1 receptor: a key player in schizophrenia?Frontiers in molecular neuroscience · 2013Article
- Orchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder.International review of neurobiology · 2013Review
- Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era.The application of clinical genetics · 2012Article
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Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundWe report on copy number variants (CNVs) found in Palauan subjects ascertained for schizophrenia and related psychotic disorders in extended pedigrees in Palau. We compare CNVs found in this Oceanic population with those seen in other samples, typically of European ancestry. Assessing CNVs in Palauan extended pedigrees yields insight into the evolution of risk CNVs, such as how they arise, are transmitted, and are lost from populations by stochastic or selective processes, none of which are easily measured from case-control samples.
methodsDNA samples from 197 subjects affected with schizophrenia and related psychotic disorders, 185 of their relatives, and 159 control subjects were successfully characterized for CNVs using Affymetrix Genomewide Human SNP Array 5.0.
resultsCopy number variants thought to be associated with risk for schizophrenia and related disorders also occur in affected individuals in Palau, specifically 15q11.2 and 1q21.1 deletions, partial duplication of IL1RAPL1 (Xp21.3), and chromosome X duplications (Klinefelter's syndrome). Partial duplication within A2BP1 appears to convey an eightfold increased risk in male subjects (95% confidence interval, .8-84.4) but not female subjects (odds ratio = .4, 95% confidence interval, .03-4.9). Affected-only linkage analysis using this variant yields a logarithm of the odds score of 3.5.
conclusionsThis study reveals CNVs that confer risk to schizophrenia and related psychotic disorders in Palau, most of which have been previously observed in samples of European ancestry. Only a few of these CNVs show evidence that they have existed for many generations, consistent with risk variants diminishing reproductive success.
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