Copy number deletion burden is associated with cognitive, structural, and resting-state network differences in patients with schizophrenia

Martin, A. K., Robinson, G., Reutens, D. and Mowry, B. (2014) Copy number deletion burden is associated with cognitive, structural, and resting-state network differences in patients with schizophrenia. Behavioural Brain Research, 272 324-334. doi:10.1016/j.bbr.2014.07.002

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Author Martin, A. K.
Robinson, G.
Reutens, D.
Mowry, B.
Title Copy number deletion burden is associated with cognitive, structural, and resting-state network differences in patients with schizophrenia
Journal name Behavioural Brain Research   Check publisher's open access policy
ISSN 1872-7549
0166-4328
Publication date 2014-10-01
Sub-type Article (original research)
DOI 10.1016/j.bbr.2014.07.002
Open Access Status
Volume 272
Start page 324
End page 334
Total pages 11
Place of publication Amsterdam, Netherlands
Publisher Elsevier
Collection year 2015
Language eng
Abstract Total burden of copy number deletions has been implicated in schizophrenia risk and has been associated with reduced cognitive functioning. The current study aims to replicate the cognitive findings and investigate regional grey and white matter volumes. Moreover, it will explore resting-state networks for correlations between functional connectivity and total deletion burden. All imaging differences will be investigated for correlations with cognitive differences. Seventy-eight patients with chronic schizophrenia, who formed a subset of a large genome-wide association study (GWAS), were assessed for intelligence, 34 had structural magnetic resonance imaging, 33 had resting-state functional magnetic resonance imaging, and 32 had diffusion tensor imaging (DTI). Total deletion burden was negatively associated with IQ performance and positively associated with regional volumes in the striatum bilaterally and in the right superior temporal gyrus and white-matter in the corpus callosum. Correlations were identified between deletion burden and both hyper and hypoconnectivity within the default-mode network and hypoconnectivity within the cognitive control network. The functional connectivity correlations with deletion burden were also correlated with the IQ differences identified. Total deletion burden affects regional volumes and resting-state functional connectivity in key brain networks in patients with schizophrenia. Moreover, effects of deletions on cognitive functioning in may be due to inefficiency of key brain networks as identified by dysconnectivity in resting-state networks.
Keyword Cognitive control
Copy number variation
Default mode network
DTI
Functional connectivity
IQ
Mutation
Schizophrenia
Striatum
Structural neuroimaging
VBM
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

 
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