Study Report

Basic Info
| Reference |
Chakirova, G.,2011 PMID: 21376542
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| Citation |
Chakirova, G., H. C. Whalley, et al. (2011). "The effects of DISC1 risk variants on brain activation in controls, patients with bipolar disorder and patients with schizophrenia." Psychiatry Res 192(1): 20-28.
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| Disease Type |
Bipolar I Disorder & Schizophrenia |
| Study Design |
case-control |
| Study Type |
Candidate-gene association study |
| Sample Size |
healthy volunteers (n=33), patients with schizophrenia (n=20) and patients with bipolar disorder (n=36) |
| SNP/Region/Marker Size |
3 SNPs |
| Predominant Ethnicity |
Caucasian |
| Population |
British |
| Gender |
55.6% male in BD patients ,65.0% male in SZ patients and 54.6% male in controls |
| Age Group |
Adults
:
Mean age(SD)(year):39.3(10.8) in BD patients ,37.0(10.1) in SZ patients and 37.3(12.1) in controls
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Detail Info
| Sample Diagnosis |
DSM |
| Sample Status |
Detailed information about the recruitment of these individuals has been provided previously (McIntosh et al., 2008). |
| Technique |
genotyping and Magnetic resonance imaging (MRI) scans |
| Statistical Method |
At the individual subject level, the data were modeled with five conditions (the four difficulty levels and the rest condition), each modeled by a boxcar convolved with a synthetic hemodynamic response function (McIntosh et al., 2008).All second level statistical analyses were conducted in SPM8 due to the improved factorial modeling available in this version of the software. |
| Result Summary |
In the healthy controls the risk associated allele carriers of SNPs rs1538979 and rs821633 demonstrated decreased activation of the cuneus. Moreover, there was an effect of SNP rs1538979 in the pre/postcentral gyrus with decreased activation in healthy controls and increased activation in patients with schizophrenia. In the bipolar group there was decreased activation in the risk carriers of SNP rs821633 in the inferior parietal lobule and left cingulate cortex. Clusters in the precentral gyrus, left middle temporal gyrus and left cerebellum were found to be significant on examining the group x genotype interactions. These findings may provide a better understanding of the neural effects of DISC1 variants and on the pathophysiology of schizophrenia and bipolar disorder. |

Genetic factors reported by this study for BD

SNPs reported by this study for BD (count: 2)
| SNP |
Related Gene(s) |
Allele Change |
Risk Allele |
Statistical Values |
Author Comments |
Result Category |
| rs821633 |
DISC1
|
C/T |
C |
(CC+CT)>TT: for BD, in the right inferior parietal lobule (P-value corrected=0.027, z=4.29; kE=330, MNI: x=28, y=-60, z=34) and in the left cingulate gyrus (P-value corrected=0.045, z=4.01; kE=285, MNI: x=-14 y=10, z=36); for healthy controls, in the right cuneus compared with non-carriers (P-value corrected=0.034, z=4.80; kE=308, MNI coordinates: x=12, y=-96, z=8)
|
Significant associations were found .
Significant associations were found .
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Positive
|
| rs1538979 |
DISC1
|
C/T |
T |
(CC+CT)>CC: for BD, P-value > 0.05
|
No significant association was observed.
No significant association was observed.
|
Negative
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Genes reported by this study for BD (count: 1)
| Gene |
Statistical Values/Author Comments |
Result Category |
| DISC1 |
In the bipolar group there was decreased activation in the risk carriers of SNP rs821633 in the infe......
In the bipolar group there was decreased activation in the risk carriers of SNP rs821633 in the inferior parietal lobule and left cingulate cortex. These findings may provide a better understanding of the neural effects of DISC1 variants and on the pathophysiology of bipolar disorder.
More...
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Positive
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Genetic factors reported by this study for SZ and/or MDD