Study Report
Basic Info
Reference |
Kajio, Y., 2014 PMID: 24196380
|
Citation |
Kajio, Y., et al. (2014). "Genetic association study between the detected risk variants based upon type II diabetes GWAS and psychotic disorders in the Japanese population." J Hum Genet 59(1): 54-56.
|
Disease Type |
Bipolar Disorder & Schizophrenia |
Study Design |
case-control |
Study Type |
Candidate-gene association study |
Sample Size |
1032 SCZ and 1012 BD patients, and 993 controls; BD type I=621, BD type II=380, schizoaffective disorder (SA)=7, unknown type of diagnosis=4 |
SNP/Region/Marker Size |
37 SNPs |
Predominant Ethnicity |
Mongloid |
Population |
Japanese |
Gender |
48.3% female for SCZ patients; 51.8%(1012) female of BD patients; 51.1%(993) female of healthy controls. |
Age Group |
adults
:
mean age (SD) = 46.8 (14.8) years for SCZ patients; mean age (SD) = 50.7 (14.3) years for BD patients; mean age (SD) = 49.7 (14.0) years for controls.
|
Detail Info
Sample Status |
SCZ and BD patients in the Japanese population |
Replication Size |
1808 SCZ (45.1% female; mean age(SD)=49.8(14.8) years), 821 patients with BD (54.6% female; mean age(SD)=48.2(14.4); 387 BD type I, 344 BD type II, 89 SA, 1 unknown type of diagnosis) and 2,321 healthy controls (57.2% female; mean age(SD)=42.3(14.2) years). |
Technique |
genotyped using the Sequenom iPLEX GOLD system (Sequenom, San Diego, CA, USA) with stringent quality control |
Statistical Method |
A meta-analysis of the SNPs (nominally significant SNPs in the first set of samples and genotyped SNPs in the second set of replication samples) was conducted by combining the screening and the replication data sets. A fixed model (the I2 heterogeneity index < 50), or a random effect model (I2>50), was applied in each analysis. All of the statistical procedures were calculated using PLINK 1.07 software. |
Result Summary |
None of the SNPs showed a significant association to the screening samples after correction for multiple testing. To avoid type II error, we genotyped the top three SNPs in BCL11A, HMG20A and HNF4A showing associations with any of the phenotypes (Puncorrected<0.01) using independent samples to replicate the nominal associations. However, we were unable to find any significant associations based on the screening results (Puncorrected<0.05). Our findings did not support the shared genetic risk between T2D and psychotic disorders in the Japanese population. |
Genetic factors reported by this study for BD
SNPs reported by this study for BD (count: 5)
SNP |
Related Gene(s) |
Allele Change |
Risk Allele |
Statistical Values |
Author Comments |
Result Category |
rs243021 |
BCL11A
|
C/T |
|
P-value=0.0031, Pcorrected=0.100, OR=0.81 for BD in screening stage, P-value=0.92, OR=0.99 for replication.
|
The BD associations exhibited nominal significance for SNPs ......
The BD associations exhibited nominal significance for SNPs in BCL11A (rs243021, Puncorrected=0.0031).
More...
|
Positive
|
rs7612463 |
UBE2E2
|
A/C |
|
P-value=0.92, Pcorrected=1, OR=0.99 for BD in screening stage
|
No association analysis was found.
No association analysis was found.
|
Negative
|
rs3802177 |
SLC30A8
|
T/C |
|
P-value=0.042, Pcorrected=1, OR=1.15 for BD in screening stage
|
SNPs in SLC30A8 (rs3802177, Puncorrected=0.042) showed the o......
SNPs in SLC30A8 (rs3802177, Puncorrected=0.042) showed the opposite direction of effect in the BD associations.
More...
|
Positive
|
rs7178572 |
HMG20A
|
G/A |
|
P-value=0.0043, Pcorrected=0.14, OR=0.82 for BD in screening stage, P-value=0.56, OR=0.97 for replication.
|
The BD associations exhibited nominal significance for SNPs ......
The BD associations exhibited nominal significance for SNPs in HMG20A (rs7178572, Puncorrected=0.0043).
More...
|
Positive
|
rs4812829 |
HNF4A
|
A/G |
|
P-value=0.0082, Pcorrected=0.26, OR=0.84 for BD in screening stage, P-value=0.49, OR=1.03 for replication.
|
SNPs in HNF4A (rs4812829, Puncorrected=0.0082) showed the op......
SNPs in HNF4A (rs4812829, Puncorrected=0.0082) showed the opposite direction of effect in the BD associations.
More...
|
Positive
|
Genes reported by this study for BD (count: 5)
Gene |
Statistical Values/Author Comments |
Result Category |
BCL11A |
The BD associations exhibited nominal significance for SNPs in BCL11A (rs243021, Puncorrected=0.0031......
The BD associations exhibited nominal significance for SNPs in BCL11A (rs243021, Puncorrected=0.0031) and HMG20A (rs7178572, Puncorrected=0.0043),
More...
|
Positive
|
HNF4A |
SNPs in SLC30A8 (rs3802177, Puncorrected=0.042) and HNF4A(rs4812829, Puncorrected=0.0082), which sho......
SNPs in SLC30A8 (rs3802177, Puncorrected=0.042) and HNF4A(rs4812829, Puncorrected=0.0082), which showed the opposite direction of effect.
More...
|
Positive
|
HMG20A |
The BD associations exhibited nominal significance for SNPs in BCL11A (rs243021, Puncorrected=0.0031......
The BD associations exhibited nominal significance for SNPs in BCL11A (rs243021, Puncorrected=0.0031) and HMG20A (rs7178572, Puncorrected=0.0043),
More...
|
Positive
|
SLC30A8 |
SNPs in SLC30A8 (rs3802177, Puncorrected=0.042) and HNF4A(rs4812829, Puncorrected=0.0082), which sho......
SNPs in SLC30A8 (rs3802177, Puncorrected=0.042) and HNF4A(rs4812829, Puncorrected=0.0082), which showed the opposite direction of effect.
More...
|
Positive
|
UBE2E2 |
No significant association of this gene was observed in BD.
No significant association of this gene was observed in BD.
|
Negative
|
Genetic factors reported by this study for SZ and/or MDD
SNPs reported by this study for SZ/MDD
Disease |
SNP |
Related Gene(s) |
Statistical Values |
Description |
Result Category |
SZ |
rs243021 |
BCL11A
|
P-value=0.12, Pcorrected=1, OR=0.89 for SZ in screening stage, P-value=0.59, OR=1.03 for replication. |
No association was found for SZ. |
Negative |
SZ |
rs7178572 |
HMG20A
|
P-value=0.25, Pcorrected=1, OR=0.93 for SZ in screening stage, P-value=0.28, OR=1.05 for replication. |
No association was found for SZ. |
Negative |
SZ |
rs4812829 |
HNF4A
|
P-value=0.281, Pcorrected=1.0, OR=0.93 for SZ in screening stage, P-value=0.49, OR=1.03 for replication. |
No association was found for SZ. |
Negative |
SZ |
rs7612463 |
UBE2E2
|
P-value=0.021, Pcorrected=0.68, OR=1.23 for SZ in screening stage. |
In the SCZ sample, only one SNP in UBE2E2 (rs7612463) showed a nominal significant association (Puncorrected < 0.05). |
Positive |
SZ |
rs3802177 |
SLC30A8
|
P-value=0.95, Pcorrected=1, OR=1.00 for SZ in screening stage. |
No association was found for SZ. |
Negative |
Genes reported by this study for SZ/MDD
Disease |
Gene |
Description |
Result Category |
SZ |
UBE2E2 |
In the SCZ sample, only one SNP in UBE2E2 (rs7612463) showed a nominal significant association (Puncorrected<0.05) |
Positive |
SZ |
HNF4A |
No association was found for SNPs in this gene for SZ. |
Negative |
SZ |
HMG20A |
No association was found for SNPs in this gene for SZ. |
Negative |
SZ |
BCL11A |
No association was found for SNPs in this gene for SZ. |
Negative |
SZ |
SLC30A8 |
No association was found for SNPs in this gene for SZ. |
Negative |