The DOI matches its Crossref record; 14 of the 14 references it cites were found in a registry or an index.
Strong synaptic transmission impact by copy number variations in schizophrenia
Open accessAbstract
Schizophrenia is a psychiatric disorder with onset in late adolescence and unclear etiology characterized by both positive and negative symptoms, as well as cognitive deficits. To identify copy number variations (CNVs) that increase the risk of schizophrenia, we performed a whole-genome CNV analysis on a cohort of 977 schizophrenia cases and 2,000 healthy adults of European ancestry who were genotyped with 1.7 million probes. Positive findings were evaluated in an independent cohort of 758 schizophrenia cases and 1,485 controls. The Gene Ontology synaptic transmission family of genes was notably enriched for CNVs in the cases ( P = 1.5 × 10 −7 ). Among these, CACNA1B and DOC2A , both calcium-signaling genes responsible for neuronal excitation, were deleted in 16 cases and duplicated in 10 cases, respectively. In addition, RET and RIT2 , both ras-related genes important for neural crest development, were significantly affected by CNVs. RET deletion was exclusive to seven cases, and RIT2 deletions were overrepresented common variant CNVs in the schizophrenia cases. Our results suggest that novel variations involving the processes of synaptic transmission contribute to the genetic susceptibility of schizophrenia.
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Cites
DAVID: Database for Annotation, Visualization, and Integrated Discovery
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Cited by
De novo mutations in schizophrenia implicate synaptic networks
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“18 However, it has been noted that the early gene-set studies did not allow for important confounders, in particular the large size of genes implicated in brain function, and that the conclusions that can be drawn are consequently unclear.”
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Functional resting-state networks are differentially affected in schizophrenia
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Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia
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Metadata
- Authors
- Glessner, J. T., Reilly, M. P., Kim, C. E., Takahashi, N., Albano, A., Hou, C., Bradfield, J. P., Zhang, H., Sleiman, P. M. A., Flory, J. H., Imielinski, M., Frackelton, E. C., Chiavacci, R., Thomas, K. A., Garris, M., Otieno, F. G., Davidson, M., Weiser, M., Reichenberg, A., Davis, K. L., Friedman, J. I., Cappola, T. P., Margulies, K. B., Rader, D. J., Grant, S. F. A., Buxbaum, J. D., Gur, R. E., & Hakonarson, H.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2010-05-20
- Volume
- 107
- Issue
- 23
- Pages
- 10584-10589
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2130842427
- Cited by
- 229
- References
- 14
- FWCI
- 13.41
- Type
- journal article
- Language
- en
- Open access
- green
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- Glessner, J. T., Reilly, M. P., Kim, C. E., Takahashi, N., Albano, A., Hou, C., Bradfield, J. P., Zhang, H., Sleiman, P. M. A., Flory, J. H., Imielinski, M., Frackelton, E. C., Chiavacci, R., Thomas, K. A., Garris, M., Otieno, F. G., Davidson, M., Weiser, M., Reichenberg, A., . . . Hakonarson, H. (2010). Strong synaptic transmission impact by copy number variations in schizophrenia. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.1000274107
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