Brief ReportCopy Number Variation in Schizophrenia in the Japanese Population
Section snippets
Methods and Materials
We analyzed 1139 age- and gender-matched unrelated subjects of Japanese ethnicity (575 schizophrenic patients and 564 control subjects). Control subjects were members of the general public who had no personal history of mental disorders. This was ascertained during face-to-face interviews where subjects were asked if they had suffered an episode of depression, mania, or psychotic experiences or if they had received treatment for any psychiatric disorder. Patients were entered into the study if
Results
The numbers of rare CNVs stratified by size in cases and control subjects are listed in Table 1. Overall, we found an excess of CNVs in subjects with schizophrenia (case-control ratio = 1.16). Although not significant (p = .087, one-tailed permutation test), this is similar to that reported by the largest CNV study (4) where the case-control ratio was 1.15. The effect in that study (4) was coming mostly from deletions >500 kb and duplications in the 100 kb to 200 kb range. No subcategory of CNV
Discussion
In this study, we do not find a significant increase in the burden of CNVs in schizophrenia, either overall or for any specific size range of CNVs, as proposed in previous studies (2, 3, 4, 7). We did, however, find several trends in the same direction and of a similar magnitude as the largest global CNV survey of schizophrenia (4). Not all research has found such an increased burden, e.g., no evidence was obtained from a study in the Chinese population (5). It is possible that genuine
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Cited by (102)
Neuroligins and neurexins
2020, Synapse Development and Maturation: Comprehensive Developmental NeuroscienceUnravelling the genetic basis of schizophrenia and bipolar disorder with GWAS: A systematic review
2019, Journal of Psychiatric ResearchCitation Excerpt :Among SZ studies, two SNPs were identified twice: rs752016 in the PLXNA2 gene (coding a neurodevelopmental-mediating receptor) (Mah et al., 2006; Sullivan et al., 2008) and rs1344706 in ZNF804A (coding a neurodevelopmental transcription factor) (O'Donovan et al., 2008; Williams et al., 2011a), although possible sample overlap had not been verified/disclosed in the review, and thus these results are not necessarily true replications. Regarding CNVs, there was replication of significant deletions involving NRXN1 in 6 studies (SJ et al., 2008; Kirov et al., 2008a; Walsh et al., 2008; Rujescu et al., 2009; Ikeda et al., 2010; Vrijenhoek et al., 2008) and NRG3, RAPGEF6, MYO38, GST1, GSTT2 and VIPR2 in at least 2 studies (Xu et al., 2008, 2009; McCarthy et al., 2009; Need et al., 2009; Kirov et al., 2009; Rodriguez-Santiago et al., 2010; Vacic et al., 2011; Levinson et al., 2011). Some genes discussed in Lee et al. (2012a) were: 1) associated with both SZ and BD by GWA, giving credence to a long-alleged partially overlapping genetic basis in these disorders (Lee et al., 2012a); and 2) have accumulated early and suggestive evidence of impact on brain structure and function, such as ANK3, CACNA1C, NRGN and ZNF804A, plus in TCF4 and DGKH, as we reviewed elsewhere (Gurung and Prata, 2015).
Catatonia in Children and Adolescents: A High Rate of Genetic Conditions
2018, Journal of the American Academy of Child and Adolescent PsychiatryRepint of “Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity”
2018, Neuroscience and Biobehavioral ReviewsCitation Excerpt :Furthermore, Table 1 indicates clearly in the chromosomal disorders part that a duplication or deletion occurring at the same locus can both lead to a phenotype of autism (see for example, the 16p11.2, 1q21.1, 15q11-q13, 22q13.3, or 22q11.21 deletion/duplication), suggesting that genetic disequilibrium at certain loci might be more important than gene-dosage effects. Interestingly, these “hot spots” were also found in schizophrenia (Ikeda et al., 2010; Levinson et al., 2011), suggesting relationships between autism and schizophrenia. It is noteworthy that many CNVs (deletion/duplication) associated with autism are observed in schizophrenia but also in intellectual disability, epilepsy, learning disorder, bipolar disorder and many other disorders (see Table 2).
Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity
2017, Neuroscience and Biobehavioral Reviews