Study Report
Basic Info
| Reference |
Mathieu, F., 2008 PMID: 18201382
|
| Citation |
Mathieu, F., S. Miot, et al. (2008). "Association between the PPP3CC gene, coding for the calcineurin gamma catalytic subunit, and bipolar disorder." Behav Brain Funct 4: 2.
|
| Disease Type |
Bipolar Disorder |
| Study Design |
case-control |
| Study Type |
Candidate-gene association study |
| Sample Size |
115 BPAD and 97 controls |
| SNP/Region/Marker Size |
2 SNPs |
| Predominant Ethnicity |
Caucasian |
| Population |
French |
| Gender |
Male/female ratio was 0.72 in BPAD patients and 1.68 in controls. |
| Age Group |
adults
:
at least 18 years old
|
Detail Info
| Sample Diagnosis |
DSM-IV |
| Statistical Method |
For CC33 and CCS3, Hardy-Weinberg-equilibrium was tested separately in cases and controls. We also estimated linkage disequilibrium values D' and r2. We tested for disease-haplotype association by likelihood-based approaches using the EH-plus software |
| Result Summary |
Carrying 'CT' or 'TT' genotypes of the PPP3CC-CC33 polymorphism increased risk to develop BPAD comparing to carry 'CC' genotype (OR = 1.8 [1.01-3.0]; p = 0.05). For the PPP3CC-CCS3 polymorphism, 'AG' or 'GG' carriers have an increased risk to develop BPAD than 'AA' carriers (OR = 2.8 [1.5-5.2]). The CC33 and CCS3 polymorphisms were observed in significant linkage disequilibrium (D' = 0.91, r2= 0.72). Haplotype frequencies were significantly different in BPAD patients than in controls (p = 0.03), with a significant over-transmission of the 'TG' haplotype in BPAD patients (p = 0.001). |
Haplotypes reported by this study for BD (count: 2)
| Markers |
Haplotype |
Related Gene(s)/Region(s) |
Statistical Values |
Author Comments |
Result Category |
| CC33 - CCS3 |
|
PPP3CC
|
Global X<sup>2</sup>=9.08, df=3, P-value = 0.03.
|
Haplotype frequencies were significantly different in BPAD p......
Haplotype frequencies were significantly different in BPAD patients than in controls.
More...
|
Positive
|
| CC33 - CCS3 |
TG |
PPP3CC
|
X<sup>2</sup>=16.2, P-value =0.001 when TG versus (C2+CG+TA)
|
A significant over-transmission of the PPP3CC haplotype 'TG'......
A significant over-transmission of the PPP3CC haplotype 'TG' was observed for bipolar patients.
More...
|
Positive
|
Other variants reported by this study for BD (count: 2)
| Variant Name |
Related Gene |
Type |
Allele Change |
Risk Allele |
Statistical Values |
Author Comments |
Result Category |
| PPP3CC-CC33 |
PPP3CC |
point mutation |
C/T |
|
Genotypic P-value = 0.07 for BPAD. OR (95% CI)=1.8 (1.01-3.0), P-value = 0.05 for (CT+TT) versus CC. OR (95% CI)=1.5 (1.01-2.2), P-value = 0.05 for the 'T'-allele of CC33.
|
Association between BPAD and CC33 genotype was borderline si......
Association between BPAD and CC33 genotype was borderline significant. with an higher risk to develop bipolar disorder for 'CT' or 'TT' carriers versus 'CC' carriers and a significant allelic association was observed with the 'T'-allele of CC33.
More...
|
Positive
|
| PPP3CC-CCS3 |
PPP3CC |
point mutation |
C/T |
|
Genotypic P-value = 0.003 for BPAD. OR (95% CI)=2.8 (1.5-5.2), P-value = 0.001 for (GG+AG) vs AA. OR (95% CI)=1.9 (1.3-2.8), P-value = 0.002 for the 'G'-allele of CCS3.
|
A significant association between BPAD and CCS3, with an hig......
A significant association between BPAD and CCS3, with an higher risk to develop bipolar disorder for 'AG' or 'GG' carriers versus 'AA' carriers and a significant allelic association between the 'G'-allele of CCS3 and BPAD was observed.
More...
|
Positive
|
