Characterizing rare copy number variants in schizophrenia: a clinical, cognitive, and neuroimaging study

Martin, Andrew K., Robinson, Gail A., Reutens, David C. and Mowry, Bryan (2014). Characterizing rare copy number variants in schizophrenia: a clinical, cognitive, and neuroimaging study. In: ICON 2014: XII International Conference on Cognitive Neuroscience, Brisbane, QLD, Australia, (). 27-31 July, 2014. doi:10.3389/conf.fnhum.2015.217.00306


Author Martin, Andrew K.
Robinson, Gail A.
Reutens, David C.
Mowry, Bryan
Title of paper Characterizing rare copy number variants in schizophrenia: a clinical, cognitive, and neuroimaging study
Conference name ICON 2014: XII International Conference on Cognitive Neuroscience
Conference location Brisbane, QLD, Australia
Conference dates 27-31 July, 2014
Journal name Frontiers in Human Neuroscience   Check publisher's open access policy
Place of Publication Lausanne, Switzerland
Publisher Frontiers Research Foundation
Publication Year 2014
Sub-type Published abstract
DOI 10.3389/conf.fnhum.2015.217.00306
Open Access Status DOI
ISSN 1662-5161
Language eng
Formatted Abstract/Summary
Background: Schizophrenia is a highly heritable disorder affecting approximately 1 in 100 people in Australia and worldwide. The emerging picture is of common and rare genetic variants, as well as environmental factors, contributing to risk. One such rare variant is chromosomal microdeletions, especially large rare deletions. However, little is known about how these deletions affect the phenotype and confer risk for schizophrenia.

Method: Clinical data (N=633), cognitive data (N=78), and neuroimaging data (VBM, DTI, & fMRI) (N=35) were collected on patients with schizophrenia with existing genetic information available from a large genome-wide association study (GWAS) pertaining to the presence of large, rare deletions and deletion burden in general.

Results: Rare deletions were associated with reduced rates of cannabis abuse, later age at onset of psychosis, greater cognitive dysfunction, and structural (VBM and DTI) profiles intermediate to those identified between healthy controls and schizophrenia patients in general. Rare deletions were associated with reduced functional connectivity between prefrontal cortex and striatum and between regions in the default mode network as identified in rs-fMRI.

Conclusions: Rare deletions affect the schizophrenia phenotype across clinical, cognitive, and neuroimaging domains, suggesting an important role in the developmental pathway towards psychosis. Further investigation is warranted, especially in larger samples.
Q-Index Code EX
Q-Index Status Provisional Code
Institutional Status UQ

 
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Created: Fri, 17 Apr 2015, 15:51:35 EST by Gail Robinson on behalf of School of Psychology