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Study Report
| Comment on Study | View All Comments on Study |
| Reference | Kakiuchi, C., 2007 (b) PMID: 17346882 |
|---|---|
| Citation | Kakiuchi, C., M. Ishiwata, et al. (2007). "Association analysis of ATF4 and ATF5, genes for interacting-proteins of DISC1, in bipolar disorder." Neurosci Lett 417(3): 316-321. |
| Disease Type | Bipolar Disorder |
| Study Design | case-control and family-based |
| Study Type | Candidate-gene association study |
| Sample Size | 438 BD patients, 532 controls and 237 trios |
| SNP/Region/Marker Size | 9 SNPs |
| Predominant Ethnicity | Caucasian and Mongloid |
| Population | Japanese, NIMH collection |
| Gender | BD patients in Japanese population: 210 males and 228 females; control: 261 males and 271 females |
| Age Group | adults : BD cases in Japanese population: mean age=50.2 (SD=13.5) years; control: mean age=43.9 (SD=15.0) years |
| Sample Diagnosis | DSM-IV |
|---|---|
| Sample Status | Japanese population: 309 Bipolar I disorder (BPI) patients, 124 Bipolar II disorder (BPII) patients and 5 schizoaffective disorder patients; NIMH sample: The probands were 224 BPI patients, 12 BPII patients and 1 schizoaffective disorder patient. |
| Technique | genotyping using TaqMan probes and ABI7900HT, real-time quantitative PCR |
| Statistical Method | Genotype and allele frequencies of single nucleotide polymorphisms were calculated by Fisher's exact test. Analysis of haplotypic distribution and frequencies, and haplotype TDT analysis were performed using COCAPHASE and TDTPHASE program |
| Result Summary | They did not find any significant association in both genetic study and expression analysis. By the exploratory haplotype analysis, nominal association of ATF4 with bipolar II patients was observed, but itwas not significant after correction of multiple testing. Contribution of common variations of ATF4 and ATF5 to the pathophysiology of bipolar disorder may be minimal if any. |
| SNP | Related Gene(s) | Allele Change | Risk Allele | Statistical Values | Author Comments | Result Category |
|---|---|---|---|---|---|---|
| rs4821907 | RPS19BP1 ATF4 | C/G | Fisher's exact test, genotypic P-value = 0.929, allelic P-value = 0.805 in MDMD samples, Fisher's exact test, genotypic P-value = 0.696, allelic P-value = 0.603 in MPS samples, Fisher's exact test, genotypic P-value = 0.62, allelic P-value = 0.518 in total samples; TDT P-value = 0.577, X2=0.311 in NIMH trios | There were no significant differences in both genotype and a...... There were no significant differences in both genotype and allele frequencies in both of total samples and independently collected age-matched samples. TDT analysis also showed no association of the SNP to the illness. More... | Negative | |
| rs283525 | IL4I1 ATF5 NUP62 | C/T | Fisher's exact test, genotypic P-value = 0.876, allelic P-value = 0.61 in MDMD samples, Fisher's exact test, genotypic P-value = 0.681, allelic P-value = 0.901 in MPS samples, Fisher's exact test, genotypic P-value = 0.778, allelic P-value = 0.893 in total samples; TDT P-value = 0.554, X2=0.351 in NIMH trios | There were no significant differences in both genotype and a...... There were no significant differences in both genotype and allele frequencies in both of total samples and independently collected age-matched samples. TDT analysis also showed no association of the SNP to the illness. More... | Negative | |
| rs283524 | IL4I1 ATF5 NUP62 | C/G | Fisher's exact test, genotypic P-value = 1, allelic P-value = 0.947 in MDMD samples, Fisher's exact test, genotypic P-value = 0.2, allelic P-value = 0.196 in MPS samples, Fisher's exact test, genotypic P-value = 0.43, allelic P-value = 0.399 in total samples; TDT P-value = 0.881, X2=0.022 in NIMH trios | There were no significant differences in both genotype and a...... There were no significant differences in both genotype and allele frequencies in both of total samples and independently collected age-matched samples. TDT analysis also showed no association of the SNP to the illness. More... | Negative | |
| rs1152230 | IL4I1 ATF5 NUP62 | A/G | Fisher's exact test, genotypic P-value = 0.367, allelic P-value = 0.514 in MDMD samples, Fisher's exact test, genotypic P-value = 0.729, allelic P-value = 0.485 in MPS samples, Fisher's exact test, genotypic P-value = 0.763, allelic P-value = 0.997 in total samples; TDT P-value = 0.783, X2=0.076 in NIMH trios | There were no significant differences in both genotype and a...... There were no significant differences in both genotype and allele frequencies in both of total samples and independently collected age-matched samples. TDT analysis also showed no association of the SNP to the illness. More... | Negative | |
| rs882565 | ATF4 RPS19BP1 | C/T | Fisher's exact test, genotypic P-value = 0.869, allelic P-value = 0.621 in MDMD samples, Fisher's exact test, genotypic P-value = 0.634, allelic P-value = 0.989 in MPS samples, Fisher's exact test, genotypic P-value = 0.638, allelic P-value = 0.664 in total samples; TDT P-value = 0.486, X2=0.486 in NIMH trios | There were no significant differences in both genotype and a...... There were no significant differences in both genotype and allele frequencies in both of total samples and independently collected age-matched samples. TDT analysis also showed no association of the SNP to the illness. More... | Negative | |
| rs8667 | IL4I1 ATF5 NUP62 | A/G | Fisher's exact test, genotypic P-value = 0.123, allelic P-value = 0.205 in MDMD samples, Fisher's exact test, genotypic P-value = 0.905, allelic P-value = 0.77 in MPS samples, Fisher's exact test, genotypic P-value = 0.199, allelic P-value = 0.23 in total samples; TDT P-value = 0.889, X2=0.02 in NIMH trios | There were no significant differences in both genotype and a...... There were no significant differences in both genotype and allele frequencies in both of total samples and independently collected age-matched samples. TDT analysis also showed no association of the SNP to the illness. More... | Negative | |
| rs8647 | IL4I1 ATF5 NUP62 | A/G | Fisher's exact test, genotypic P-value = 0.261, allelic P-value = 0.35 in MDMD samples, Fisher's exact test, genotypic P-value = 0.705, allelic P-value = 0.92 in MPS samples, Fisher's exact test, genotypic P-value = 0.253, allelic P-value = 0.517 in total samples; TDT P-value = 0.889, X2=0.02 in NIMH trios | There were no significant differences in both genotype and a...... There were no significant differences in both genotype and allele frequencies in both of total samples and independently collected age-matched samples. TDT analysis also showed no association of the SNP to the illness. More... | Negative | |
| rs6519194 | ATF4 | A/G | Fisher's exact test, genotypic P-value = 0.6, allelic P-value = 0.429 in MDMD samples, Fisher's exact test, genotypic P-value = 0.78, allelic P-value = 0.757 in MPS samples, Fisher's exact test, genotypic P-value = 0.7, allelic P-value = 0.681 in total samples; TDT P-value = 0.556, X2=0.346 in NIMH trios | There were no significant differences in both genotype and a...... There were no significant differences in both genotype and allele frequencies in both of total samples and independently collected age-matched samples. TDT analysis also showed no association of the SNP to the illness. More... | Negative | |
| rs1028321 | RPS19BP1 ATF4 | A/G | Fisher's exact test, genotypic P-value = 0.236, allelic P-value = 0.089 in MDMD samples, Fisher's exact test, genotypic P-value = 0.997, allelic P-value = 0.942 in MPS samples, Fisher's exact test, genotypic P-value = 0.436, allelic P-value = 0.204 in total samples; TDT P-value = 0.576, X2=0.312 in NIMH trios | There were no significant differences in both genotype and a...... There were no significant differences in both genotype and allele frequencies in both of total samples and independently collected age-matched samples. TDT analysis also showed no association of the SNP to the illness. More... | Negative |
| Markers | Haplotype | Related Gene(s)/Region(s) | Statistical Values | Author Comments | Result Category |
|---|---|---|---|---|---|
| rs1152230 - rs283524 - rs283525 | ATF5 | COCAPHASE global P-value = 0.4677 in Japanese samples; TDT P-value = 0.1915 in NIMH samples | Haplotype analysis did not show significant difference in bo...... Haplotype analysis did not show significant difference in both of the ethnicities. More... | Negative | |
| rs1152230 - rs283524 | ATF5 | COCAPHASE global P-value = 0.3182 in Japanese samples; TDT P-value = 0.8767 in NIMH samples | Haplotype analysis did not show significant difference in bo...... Haplotype analysis did not show significant difference in both of the ethnicities. More... | Negative | |
| rs882565 - rs4821907 - rs1028321 | ATF4 | COCAPHASE global P-value = 0.287 in Japanese samples; TDT P-value = 0.4214 in NIMH samples | Haplotype analysis did not show significant difference in bo...... Haplotype analysis did not show significant difference in both of the ethnicities. More... | Negative | |
| rs882565 - rs4821907 | ATF4 | COCAPHASE global P-value = 0.5575 in Japanese samples; TDT P-value = 0.404 in NIMH samples | Haplotype analysis did not show significant difference in bo...... Haplotype analysis did not show significant difference in both of the ethnicities. More... | Negative | |
| rs6519194 - rs882565 - rs4821907 - rs1028321 | G-C-C-G | ATF4 | COCAPHASE global P-value = 0.4931 in Japanese samples; TDT P-value = 0.5813 in NIMH samples; global P-value = 0.0156 in BPII patients, P-value = 0.00143 for G-C-C-G haplotype | Haplotype analysis of ATF4 in BPII patients and controls of ...... Haplotype analysis of ATF4 in BPII patients and controls of Japanese samples showed the significant association. rs6519194(G)-rs882565(C)-rs4821907(C)-rs1028321(G) haplotype was significantly less in cases. More... | Positive |
| rs6519194 - rs882565 - rs4821907 | ATF4 | COCAPHASE global P-value = 0.8182 in Japanese samples; TDT P-value = 0.5464 in NIMH samples | Haplotype analysis did not show significant difference in bo...... Haplotype analysis did not show significant difference in both of the ethnicities. More... | Negative | |
| rs6519194 - rs882565 | ATF4 | COCAPHASE global P-value = 0.9401 in Japanese samples; TDT P-value = 0.5841 in NIMH samples | Haplotype analysis did not show significant difference in bo...... Haplotype analysis did not show significant difference in both of the ethnicities. More... | Negative | |
| rs4821907 - rs1028321 | ATF4 | COCAPHASE global P-value = 0.1748 in Japanese samples; TDT P-value = 0.5742 in NIMH samples | Haplotype analysis did not show significant difference in bo...... Haplotype analysis did not show significant difference in both of the ethnicities. More... | Negative | |
| rs283525 - rs8647 - rs8667 | ATF5 | COCAPHASE global P-value = 0.4183 in Japanese samples; TDT P-value = 0.565 in NIMH samples | Haplotype analysis did not show significant difference in bo...... Haplotype analysis did not show significant difference in both of the ethnicities. More... | Negative | |
| rs8647 - rs8667 | ATF5 | COCAPHASE global P-value = 0.3635 in Japanese samples; TDT P-value = 0.8887 in NIMH samples | Haplotype analysis did not show significant difference in bo...... Haplotype analysis did not show significant difference in both of the ethnicities. More... | Negative | |
| rs283524 - rs283525 - rs8647 - rs8667 | ATF5 | COCAPHASE global P-value = 0.4648 in Japanese samples; TDT P-value = 0.06708 in NIMH samples | Haplotype analysis did not show significant difference in bo...... Haplotype analysis did not show significant difference in both of the ethnicities. More... | Negative | |
| rs283525 - rs8647 | ATF5 | COCAPHASE global P-value = 0.5999 in Japanese samples; TDT P-value = 0.565 in NIMH samples | Haplotype analysis did not show significant difference in bo...... Haplotype analysis did not show significant difference in both of the ethnicities. More... | Negative | |
| rs283524 - rs283525 | ATF5 | COCAPHASE global P-value = 0.3844 in Japanese samples; TDT P-value = 0.2365 in NIMH samples | Haplotype analysis did not show significant difference in bo...... Haplotype analysis did not show significant difference in both of the ethnicities. More... | Negative | |
| rs283524 - rs283525 - rs8647 | ATF5 | COCAPHASE global P-value = 0.4337 in Japanese samples; TDT P-value = 0.067 in NIMH samples | Haplotype analysis did not show significant difference in bo...... Haplotype analysis did not show significant difference in both of the ethnicities. More... | Negative | |
| rs1152230 - rs283524 - rs283525 - rs8647 | ATF5 | COCAPHASE global P-value = 0.4602 in Japanese samples; TDT P-value = 0.08347 in NIMH samples | Haplotype analysis did not show significant difference in bo...... Haplotype analysis did not show significant difference in both of the ethnicities. More... | Negative | |
| rs1152230 - rs283524 - rs283525 - rs8647 - rs8667 | ATF5 | COCAPHASE global P-value = 0.5119 in Japanese samples; TDT P-value = 0.08347 in NIMH samples | Haplotype analysis did not show significant difference in bo...... Haplotype analysis did not show significant difference in both of the ethnicities. More... | Negative |
| Gene | Statistical Values/Author Comments | Result Category |
|---|---|---|
| ATF5 | We did not find the association of ATF5 with bipolar disorder by genetic association study of Japane...... We did not find the association of ATF5 with bipolar disorder by genetic association study of Japanese samples and NIMH trio samples. In addition, there was no difference of mRNA expression levels between BPI patients and controls. More... | Negative |
| ATF4 | There were no significant differences in both genotype and allele frequencies in four SNPs of ATF4 l...... There were no significant differences in both genotype and allele frequencies in four SNPs of ATF4 locus; TDT analysis also showed no association to the illness; nominal association of ATF4 with bipolar II patients was observed, but itwas not significant after correction of multiple testing; Haplotype analysis of ATF4 in BPII patients and controls of Japanese samples showed the significant association More... | Positive |
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
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Last update: March 31, 2016


