Study Report
Basic Info
| Reference |
Yoshimi, A., 2008 PMID: 18055181
|
| Citation |
Yoshimi, A., N. Takahashi, et al. (2008). "Genetic analysis of the gene coding for DARPP-32 (PPP1R1B) in Japanese patients with schizophrenia or bipolar disorder." Schizophr Res 100(1-3): 334-341.
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| Disease Type |
Bipolar Disorder & Schizophrenia |
| Study Design |
case-control |
| Study Type |
Candidate-gene association study |
| Sample Size |
subjects with schizophrenia=384, subjects with bipolar disorder=318, control subjects=384 |
| SNP/Region/Marker Size |
4 SNPs |
| Predominant Ethnicity |
Mongloid |
| Population |
Japanese |
| Gender |
The subjects for the case-control analysis consisted of patients with schizophrenia (226 males and 158 females), patients with bipolar disorder (162 males and 156 females) and control subjects (159 males and 225 females). Replication sample consisted of patients with bipolar disorder (181 males and 185 females) and control subjects (185 males and 185 females). |
| Age Group |
adults
:
SZ patients: mean age=52.1 (SD=15.3) years; BD patients: mean age=44.0 (SD=20.7) years; healthy controls: mean age=43.9 (SD=15.9) years, BD patients in replication sample: mean age=50.1 (SD=13.4) years; healthy controls in replication sample: mean age=50.6 (SD=12.6) years,
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Detail Info
| Sample Diagnosis |
DSM-IV-TR |
| Replication Size |
bipolar disorder=366, control subjects=370 |
| Technique |
Quantitative real-time PCR. Genotyping |
| Statistical Method |
Genotype deviations from the HWE and singlemarker association were analyzed using Haploview software. We evaluated the allelic and genotypic associations by the X2test. Genotypic association of SNPs that deviated from the HWE was analyzed using Cochran-Armitage trend tests for multiplicative model of inheritance. Haplotypic analyses were performed with Unphased version 2.403. The significance level for all statistical tests was 0.05. Bonferroni corrections were used for multiple comparisons. Power calculations were performed using the genetic statistical package on a genetic power calculator. |
| Result Summary |
Single-marker and haplotypic analyses of four single nucleotide polymorphisms in a sample set showed that PPP1R1B polymorphisms were not significantly associated with schizophrenia, whereas, even after Bonferroni corrections, significant associations with bipolar disorder were observed for rs12601930 (corrected genotypic p=0.00059) and rs907094 (corrected allelic p=0.040). We, however, could not confirm these results in a second independent sample set. We now believe that the significant association observed with the first sample set was a result of copy number aberrations in the region surrounding these SNPs. Our findings suggest that PPP1R1B SNPs are unlikely to be related to the development of schizophrenia and bipolar disorder in the Japanese population. |
Genetic factors reported by this study for BD
SNPs reported by this study for BD (count: 4)
| SNP |
Related Gene(s) |
Allele Change |
Risk Allele |
Statistical Values |
Author Comments |
Result Category |
| rs3764352 |
PPP1R1B
STARD3
|
A/G |
G |
Genotypic P-value = 0.176, Armitage's P-value = 0.385. allelic P-value = 0.407 in BD.
|
|
Negative
|
| rs12601930 |
PPP1R1B
STARD3
|
C/T |
T |
Genotypic P-value = 0.000147, Armitage's P-value = 0.804. allelic P-value = 0.802 in the first BD sample set. Genotypic P-value = 0.419, Armitage's P-value = 0.192. allelic P-value = 0.191 in the second BD sample set.
|
significant associations with bipolar disorder were observed
significant associations with bipolar disorder were observed
|
Positive
|
| rs907094 |
PPP1R1B
STARD3
|
T/C |
C |
Genotypic P-value = 0.036, Armitage's P-value = 0.010. allelic P-value = 0.010 in the first BD sample set. Genotypic P-value = 0.565, Armitage's P-value = 0.731. allelic P-value = 0.734 in the second BD sample set.
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significant associations with bipolar disorder were observed
significant associations with bipolar disorder were observed
|
Positive
|
| rs879606 |
PPP1R1B
|
G/A |
A |
Genotypic P-value = 0.857, Armitage's P-value = 0.580. allelic P-value = 0.306 in BD.
|
|
Negative
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Haplotypes reported by this study for BD (count: 1)
| Markers |
Haplotype |
Related Gene(s)/Region(s) |
Statistical Values |
Author Comments |
Result Category |
| rs2271309 - rs12601930 - rs907094 - rs3764352 |
|
PPP1R1B
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Global P-value = 0.030
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Haplotypic analyses of four SNPs in a sample set showed that......
Haplotypic analyses of four SNPs in a sample set showed that PPP1R1B polymorphisms were significantly associated with BD.
More...
|
Positive
|
Genes reported by this study for BD (count: 1)
| Gene |
Statistical Values/Author Comments |
Result Category |
| PPP1R1B |
Single-marker and haplotypic analyses of four single nucleotide polymorphisms (SNPs; rs879606, rs12601930, rs907094, and rs3764352) in a sample set (subjects with schizophrenia=384, subjects with bipolar disorder=318, control subjects=384) showed that even after Bonferroni corrections, significant associations with bipolar disorder were observed for rs12601930 (corrected genotypic p=0.00059) and rs907094 (corrected allelic p=0.040). We, however, could not confirm these results in a second independent sample set (subjects with bipolar disorder=366, control subjects=370)..
Our findings suggest that PPP1R1B SNPs are unlikely to be related to the development of schizophreni......
Our findings suggest that PPP1R1B SNPs are unlikely to be related to the development of schizophrenia and bipolar disorder in the Japanese population.
More...
|
Negative
|
Genetic factors reported by this study for SZ and/or MDD
