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Study Report
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Reference | Yosifova, A.,2011 PMID: 21771265 |
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Citation | Yosifova, A., T. Mushiroda, et al. (2011). "Genome-wide association study on bipolar disorder in the Bulgarian population." Genes Brain Behav 10(7): 789-797. |
Disease Type | Bipolar Disorder |
Study Design | case-control |
Study Type | Genome-wide association study |
Sample Size | 188 bipolar disorder patients and 376 control subjects |
SNP/Region/Marker Size | 497,732 SNPs |
Predominant Ethnicity | Caucasian |
Population | Bulgarian |
Gender | Male/female:66/122 in BD patients and 165/211 in controls for GWAS sample set;53/69 in BD patients and 183/145 in controls for replication set |
Sample Diagnosis | DSM |
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Sample Status | For the GWAS, peripheral blood samples from 188 unrelated Bulgarian individuals with BAD were collected from the University Psychiatric Clinics in Plovdiv, Sofia and Radnevo in Bulgaria. The control group includes 376 unrelated healthy individuals. For the replication study, a total of 450 independent, non-overlapping participants were examined. Of these, 122 were BAD cases, recruited from the Psychiatric Clinics and Dispensaries in Plovdiv, Radnevo, Sofia, Blagoevgrad and Russe,and 328 were controls. |
Replication Size | 122 bipolar disorder patients and 328 control subjects |
Technique | For the GWAS:Genotyping(Illumina Human-Hap550v3 Genotyping BeadChip);for replication study:PCR and sequencing |
Statistical Method | Differences between the case and control groups in GWAS and in the replication study were tested by a two-tailed Fisher's exact test in dominant, recessive and allelic models.To determine the overall evidence of association, Mantel-Haenszel test statistics were applied to the two datasets. |
Result Summary | Although our study did not show any association P value that achieved genome-wide significance, and none of the top 100 SNPs reached the Bonferroni-corrected P value in the replication study, the plausible involvement of some variants cannot be entirely discarded. Three polymorphisms, rs8099939 [P = 2.12 x 10(-6), odds ratio (OR) = 1.95, 95% confidence interval (CI) = 1.43-2.67] in GRIK5, rs6122972 (P = 3.11 x 10(-6), OR = 2.02, 95% CI = 1.46-2.80) in PARD6B and rs2289700 (P = 9.14 x 10(-6), OR = 2.13, 95% CI = 1.53-2.95) in CTSH remained associated at a similar level after Mantel-Haenszel test for combining the results from the genome-wide and replication studies. A modest association was also detected for SNP rs1012053 (GWAS P = 4.50 x 10(-2)) in DGKH, which has already been reported as the most significant variant in a previous genome-wide scan on bipolar disorder. However, further studies using larger datasets are needed to identify variants with smaller effects that contribute to the risk of bipolar disorder. |
SNP | Related Gene(s) | Allele Change | Risk Allele | Statistical Values | Author Comments | Result Category |
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rs16970287 | CTSH | A>G | GWAS P-value = 0.00000477, OR(95%CI)=2.75(1.75-4.33); Replication P-value = 0.257, OR(95%CI)=1.39(0.82-2.36); Mantel-Haenszel P-value = 0.000027, OR(95%CI)=2.14(1.52-3.00) | Suggestive association was found. Suggestive association was found. | Trend | |
rs2289700 | CTSH | G>A | GWAS P-value = 0.0000026, OR(95%CI)=2.7(1.74-4.19); Replication P-value = 0.171, OR(95%CI)=1.47(0.88-2.45); Mantel-Haenszel P-value = 0.00000914, OR(95%CI)=2.13(1.53-2.95) | Suggestive association was found. Suggestive association was found. | Trend | |
rs3123209 | TCERG1L | G>A | GWAS P-value = 0.0000229, OR(95%CI)=2.63(1.67-4.15); Replication P-value = 0.101, OR(95%CI)=1.57(0.89-2.75); Mantel-Haenszel P-value = 0.0000756, OR(95%CI)=2.06(1.45-2.94) | Suggestive association was found. Suggestive association was found. | Trend | |
rs4317369 | GABRA1 | GWAS P-value = 0.0000309, OR(95%CI)=2.1(1.45-3.04); Replication P-value = 0.629, OR(95%CI)=1.19(0.62-2.30); Mantel-Haenszel P-value = 0.00399, OR(95%CI)=1.51(1.14-2.00) | No significant association was observed in BD. No significant association was observed in BD. | Negative | ||
rs10507408 | A>G | GWAS P-value = 0.0000539, OR(95%CI)=3.64(1.89-7.00); Replication P-value = 0.102, OR(95%CI)=1.76(0.89-3.46); Mantel-Haenszel P-value = 0.0000488, OR(95%CI)=2.58(1.61-4.15) | No significant association was observed in BD. No significant association was observed in BD. | Negative | ||
rs10875032 | PTBP2 | G>T | GWAS P-value = 0.00000899, OR(95%CI)=2.97(1.81-4.88); Replication P-value = 0.03, OR(95%CI)=1.94(1.07-3.52); Mantel-Haenszel P-value = 0.0000967, OR(95%CI)=2.76(1.88-4.05) | Suggestive association was found. Suggestive association was found. | Trend | |
rs11129950 | CCK | A>G | GWAS P-value = 0.00000883, OR(95%CI)=2.78(1.75-4.40); Replication P-value = 0.098, OR(95%CI)=1.4(0.85-2.32); Mantel-Haenszel P-value = 0.0000218, OR(95%CI)=1.99(1.42-2.79) | Suggestive association was found. Suggestive association was found. | Trend | |
rs11951528 | GABRA1 | GWAS P-value = 0.0000199, OR(95%CI)=2.14(1.48-3.10); Replication P-value = 0.527, OR(95%CI)=1.24(0.65-2.39); Mantel-Haenszel P-value = 0.00283, OR(95%CI)=1.5(1.13-1.98) | No significant association was observed in BD. No significant association was observed in BD. | Negative | ||
rs4447895 | CHRNA9 | GWAS P-value = 0.0000583, OR(95%CI)=2.98(1.70-5.24); Replication P-value = 0.278, OR(95%CI)=1.31(0.72-2.38); Mantel-Haenszel P-value = 0.000168, OR(95%CI)=2.13(1.41-3.20) | No significant association was observed in BD. No significant association was observed in BD. | Negative | ||
rs6122972 | PARD6B | A>G | GWAS P-value = 0.00000254, OR(95%CI)=2.76(1.75-4.35); Replication P-value = 0.078, OR(95%CI)=1.5(0.92-2.44); Mantel-Haenszel P-value = 0.00000311, OR(95%CI)=2.02(1.46-2.80) | Suggestive association was found. Suggestive association was found. | Trend | |
rs8099939 | GRIK5 | G>T | GWAS P-value = 0.00000146, OR(95%CI)=2.53(1.65-3.88); Replication P-value = 0.097, OR(95%CI)=1.45(0.90-2.34); Mantel-Haenszel P-value = 0.00000212, OR(95%CI)=1.95(1.43-2.67) | Suggestive association was found. Suggestive association was found. | Trend | |
rs8109263 | ZNF626 | G>T | GWAS P-value = 0.00000199, OR(95%CI)=3.52(2.07-6.00); Replication P-value = 0.229, OR(95%CI)=1.42(0.82-2.47); Mantel-Haenszel P-value = 0.0000408, OR(95%CI)=2.35(1.60-3.44) | Suggestive association was found. Suggestive association was found. | Trend | |
rs10491291 | FSTL4 | C>T | GWAS P-value = 0.00000482, OR(95%CI)=2.36(1.59-3.51); Replication P-value = 0.471, OR(95%CI)=1.21(0.76-1.91); Mantel-Haenszel P-value = 0.0000953, OR(95%CI)=1.72(1.28-2.31) | Suggestive association was found. Suggestive association was found. | Trend | |
rs10476364 | GABRA6 | GWAS P-value = 0.0000139, OR(95%CI)=2.14(1.48-3.10); Replication P-value = 0.628, OR(95%CI)=1.21(0.63-2.32); Mantel-Haenszel P-value = 0.00184, OR(95%CI)=1.55(1.17-2.05) | No significant association was observed in BD. No significant association was observed in BD. | Negative |
Gene | Statistical Values/Author Comments | Result Category |
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FSTL4 | Suggestive association of this gene was found. Suggestive association of this gene was found. | Trend |
CCK | Suggestive association of this gene was found. Suggestive association of this gene was found. | Trend |
TCERG1L | Suggestive association of this gene was found. Suggestive association of this gene was found. | Trend |
ZNF626 | Suggestive association of this gene was found. Suggestive association of this gene was found. | Trend |
CHRNA9 | No significant association of this gene was observed in BD. No significant association of this gene was observed in BD. | Negative |
PTBP2 | Suggestive association of this gene was found. Suggestive association of this gene was found. | Trend |
GABRA6 | No significant association of this gene was observed in BD. No significant association of this gene was observed in BD. | Negative |
GRIK5 | Suggestive association of this gene was found. Suggestive association of this gene was found. | Trend |
PARD6B | Suggestive association of this gene was found. Suggestive association of this gene was found. | Trend |
CTSH | Suggestive association of this gene was found. Suggestive association of this gene was found. | Trend |
GABRA1 | No significant association of this gene was observed in BD. No significant association of this gene was observed in BD. | Negative |
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
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Last update: March 31, 2016