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Reference | Ohtsuki, T.,2002 PMID: 12399948 |
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Citation | Ohtsuki, T., H. Ishiguro, et al. (2002). "Association between serotonin 4 receptor gene polymorphisms and bipolar disorder in Japanese case-control samples and the NIMH Genetics Initiative Bipolar Pedigrees." Mol Psychiatry 7(9): 954-961. |
Disease Type | Bipolar Disorder & Schizophrenia & Major Depressive Disorder |
Study Design | case-control |
Study Type | Candidate-gene association study |
Sample Size | 53 patients with bipolar disorder, 58 patients with depressive disorder (recurrent major depression), 96 patients with schizophrenia and 187 control subjects |
SNP/Region/Marker Size | 12 variants |
Predominant Ethnicity | |
Population | Japanese and NIMH collections |
Gender | Male/female:patients with bipolar disorder(30 men, 23 women), patients with depressive disorder(23 men, 35 women), 96 patients with schizophrenia (56 men, 40 women),and control subjects (103 men, 84 women) |
Age Group | Adults : patients with bipolar disorder(age 32-77 years (mean 55.2 years)), patients with depressive disorder(age 27-77 years (mean 58.7 years)), patients with schizophrenia (age 18-80 years (mean 51.4 years)),and control subjects ( age 35-74 (mean 53.6 years)) |
Sample Diagnosis | DSM |
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Sample Status | Case-control subjects The case-control subjects were unrelated Japanese. Control subjects were anonymous healthy volunteers and were not evaluated by psychiatrists. NIMH Genetics Initiative Bipolar Pedigrees A panel of 69 multiplex pedigrees of the NIMH Genetics Initiative Pedigrees was used for TDT.In addition to bipolar I disorder, three hierarchical diagnoses were used in this study. Under model I, an affected individual had been diagnosed with schizoaffective disorder, bipolar type (SA/BP) or bipolar I disorder(BPI). Affected individuals under model II included those diagnosed under model I as well as those with bipolar II disorder (BPII). Model III included all individuals classified as affected under model II as well as those with unipolar recurrent depression. |
Replication Size | 69 multiplex pedigrees with 375 informative persons |
Technique | PCR,RFLP and sequencing |
Statistical Method | Fisher's exact test (two-tailed) and the transmission disequilibrium test (TDT). |
Result Summary | One of the haplotypes showed significant association with bipolar disorder (P = 0.002). The genotypic and haplotypic associations with bipolar disorder were confirmed by transmission disequilibrium test in the NIMH Genetics Initiative Bipolar Pedigrees with ratios of transmitted to not transmitted alleles of 1.5 to 2.0 (P = 0.01). The same haplotype that showed association with bipolar disorder was suggested to be associated with schizophrenia in the case-control analysis (P = 0.003) but was not confirmed when Japanese schizophrenia families were tested. The polymorphisms associated with mood disorder were located within the region that encodes the divergent C-terminal tails of the 5-HT(4) receptor. These findings suggest that genomic variations in the HTR4 gene may confer susceptibility to mood disorder. |
Markers | Haplotype | Related Gene(s)/Region(s) | Statistical Values | Author Comments | Result Category |
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(HTR4_SVRSNP1) - (HTR4_SVRSNP4) | T-G | HTR4 | Haplotype analysis:Transmission disequilibrium test:T/NT=24/41, chi square=4.4, P-value = 0.03; Model I:T/NT=27/44, chi square=4.1, P-value = 0.04; Model II:T/NT=33/49, chi square=2.2, P-value = 0.14; Model III:T/NT=41/55, chi square=1.1, P-value = 0.3 | Significant association was found in BD. Significant association was found in BD. | Positive |
(HTR4_SVRSNP1) - (HTR4_SVRSNP4) | C-G | HTR4 | Haplotype analysis:Transmission disequilibrium test:T/NT=8/13, chi square=1.2, P-value = 0.28; Model I:T/NT=8/15, chi square=2.1, P-value = 0.14; Model II:T/NT=11/18, chi square=1.3, P-value = 0.25; Model III:T/NT=12/21, chi square=2.1, P-value = 0.14 | No significant association was found . No significant association was found . | Negative |
(HTR4_SVRSNP1) - (HTR4_SVRSNP4) | C-A | HTR4 | Haplotype analysis:Transmission disequilibrium test:T/NT=49/27, chi square=6.4, P-value = 0.01; Model I:T/NT=54/30, chi square=6.9, P-value = 0.009; Model II:T/NT=61/37, chi square=4.1, P-value = 0.04; Model III:T/NT=69/45, chi square=3.1, P-value = 0.08 | Significant association was found in BD. Significant association was found in BD. | Positive |
Variant Name | Related Gene | Type | Allele Change | Risk Allele | Statistical Values | Author Comments | Result Category |
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HTR4 IVS4+36T/C | HTR4 | point mutation | T/C | Association analysis:Fisher's exact test, genotype P-value = 0.17, allele P-value = 0.86, OR=1.1OR(95%CI)=0.5-2.1 | No significant association was observed in BD. No significant association was observed in BD. | Negative | |
HTR4 IVS3+6G/A | HTR4 | point mutation | G/A | Association analysis:Fisher's exact test, genotype P-value = 0.54, allele P-value = 1, OR=0.97OR(95%CI)=0.5-2.0 | No significant association was observed in BD. No significant association was observed in BD. | Negative | |
HTR4 IVS3+63C/T | HTR4 | point mutation | C/T | Association analysis:Fisher's exact test, genotype P-value = 0.58, allele P-value = 0.53, OR=1.4OR(95%CI)=0.6-3.5 | No significant association was observed in BD. No significant association was observed in BD. | Negative | |
HTR4 IVS1+15T/C | HTR4 | point mutation | T/C | Association analysis:Fisher's exact test, genotype P-value = 0.08, allele P-value = 0.09, OR=2.9OR(95%CI)=0.9-8.4 | No significant association was observed in BD. No significant association was observed in BD. | Negative | |
HTR4 SVRSNP4 | HTR4 | point mutation | C/T | Association analysis:Fisher's exact test, genotype P-value = 0.001, allele P-value = 0.05, OR=1.6OR(95%CI)=1.0-2.6;Transmission disequilibrium test:NIMH pedigrees, BP-I:T/NT=36/18, chi square=6, P-value = 0.01;Model I:T/NT=41/21, chi square=6.5, P-value = 0.01;Model II:T/NT=46/28, chi square=2.6, P-value = 0.11;Model III:T/NT=51/35, chi square=1.6, P-value = 0.24 | Significant associations were found in BPD patients. Significant associations were found in BPD patients. | Positive | |
HTR4 SVRSNP3 | HTR4 | point mutation | 9T/10T | Association analysis:Fisher's exact test, genotype P-value = 0.02, allele P-value = 0.02, OR=2.2OR(95%CI)=1.2-4.3 | Significant associations were found in BPD patients. Significant associations were found in BPD patients. | Positive | |
HTR4 SVRSNP2 | HTR4 | point mutation | G/A | Association analysis:Fisher's exact test, genotype P-value = 0.07, allele P-value = 0.03, OR=2.2OR(95%CI)=1.1-4.5 | Significant associations were found in BPD patients. Significant associations were found in BPD patients. | Positive | |
HTR4 SVRSNP1 | HTR4 | point mutation | C/T | Association analysis:Fisher's exact test, genotype P-value = 0.03, allele P-value = 0.08, OR=1.5OR(95%CI)=1.0-2.3;Transmission disequilibrium test:NIMH pedigrees, BP-I:T/NT=43/26, chi square=4.2, P-value = 0.04;Model I:T/NT=46/30, chi square=3.4, P-value = 0.07;Model II:T/NT=51/36, chi square=1.8, P-value = 0.18;Model III:T/NT=57/45, chi square=0.7, P-value = 0.41 | Significant associations were found in BPD patients. Significant associations were found in BPD patients. | Positive |
Gene | Statistical Values/Author Comments | Result Category |
---|---|---|
HTR4 | These findings suggest that genomic variations in the HTR4 gene may confer susceptibility to mood di...... These findings suggest that genomic variations in the HTR4 gene may confer susceptibility to mood disorder. More... | Positive |
Disease | Markers | Haplotype | Related Gene(s)/Region(s) | Statistical Values | Description | Result Category |
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SZ | (HTR4_SVRSNP1) - (HTR4_SVRSNP4) | C-A | HTR4 | Haplotype analysis:Transmission disequilibrium test:Schizophrenia(RIKEN families):T/NT=16/20, chi square=0.4, P-value = 0.5 | No significant association was observed in SZ. | Negative |
SZ | (HTR4_SVRSNP1) - (HTR4_SVRSNP4) | C-G | HTR4 | Haplotype analysis:Transmission disequilibrium test:Schizophrenia(RIKEN families):T/NT=19/18, chi square=0.03, P-value = 0.87 | Significant association was found in SZ. | Positive |
SZ | (HTR4_SVRSNP1) - (HTR4_SVRSNP4) | T-G | HTR4 | Haplotype analysis:Transmission disequilibrium test:Schizophrenia(RIKEN families):T/NT=25/21, chi square=0.35, P-value = 0.56 | No significant association was observed in SZ. | Negative |
Disease | Variant Name | Related Gene | Type | Statistical Values | Description | Result Category |
---|---|---|---|---|---|---|
SZ | HTR4 SVRSNP1 | HTR4 | point mutation | Association analysis:Fisher's exact test, genotype P-value = 0.48, allele P-value = 0.28, OR=1.2OR(95%CI)=0.9-1.7;Transmission disequilibrium test:Schizophrenia(RIKEN families):T/NT=43/50, chi square=0.53, P-value = 0.47 | No significant association was observed in SZ. | Negative |
SZ | HTR4 IVS4+36T/C | HTR4 | point mutation | Association analysis:Fisher's exact test, genotype P-value = 0.47, allele P-value = 0.66, OR=1.1OR(95%CI)=0.7-1.7 | No significant association was observed in SZ. | Negative |
SZ | HTR4 SVRSNP3 | HTR4 | point mutation | Association analysis:Fisher's exact test, genotype P-value = 0.19, allele P-value = 0.12, OR=1.4OR(95%CI)=0.9-2.1 | No significant association was observed in SZ. | Negative |
SZ | HTR4 SVRSNP2 | HTR4 | point mutation | Association analysis:Fisher's exact test, genotype P-value = 0.55, allele P-value = 1, OR=1OR(95%CI)=0.6-1.7 | No significant association was observed in SZ. | Negative |
SZ | HTR4 IVS1+15T/C | HTR4 | point mutation | Association analysis:Fisher's exact test, genotype P-value = 0.28, allele P-value = 0.62, OR=0.8OR(95%CI)=0.3-2.1 | No significant association was observed in SZ. | Negative |
SZ | HTR4 IVS3+6G/A | HTR4 | point mutation | Association analysis:Fisher's exact test, genotype P-value = 0.97, allele P-value = 0.81, OR=1.1OR(95%CI)=0.7-1.7 | No significant association was observed in SZ. | Negative |
SZ | HTR4 IVS3+63C/T | HTR4 | point mutation | Association analysis:Fisher's exact test, genotype P-value = 0.65, allele P-value = 0.42, OR=1.3OR(95%CI)=0.8-2.2 | No significant association was observed in SZ. | Negative |
SZ | HTR4 SVRSNP4 | HTR4 | point mutation | Association analysis:Fisher's exact test, genotype P-value = 0.34, allele P-value = 0.16, OR=1.3OR(95%CI)=0.9-2.0;Transmission disequilibrium test:Schizophrenia(RIKEN families):T/NT=34/45, chi square=1.53, P-value = 0.22 | No significant association was observed in SZ. | Negative |
MDD | HTR4 SVRSNP1 | HTR4 | point mutation | Association analysis:Fisher's exact test, genotype P-value = 0.001, allele P-value = 0.0007, OR=2.1OR(95%CI)=1.4-3.2 | Significant associations were found in MDD. | Positive |
MDD | HTR4 IVS4+36T/C | HTR4 | point mutation | Association analysis:Fisher's exact test, genotype P-value = 0.49, allele P-value = 0.6, OR=1.3OR(95%CI)=0.6-2.6 | No significant association was observed in MDD. | Negative |
MDD | HTR4 SVRSNP3 | HTR4 | point mutation | Association analysis:Fisher's exact test, genotype P-value = 0.09, allele P-value = 0.1, OR=1.7OR(95%CI)=0.9-3.3 | No significant association was observed in MDD. | Negative |
MDD | HTR4 SVRSNP2 | HTR4 | point mutation | Association analysis:Fisher's exact test, genotype P-value = 0.08, allele P-value = 0.68, OR=0.2OR(95%CI)=0.5-2.6 | No significant association was observed in MDD. | Negative |
MDD | HTR4 IVS1+15T/C | HTR4 | point mutation | Association analysis:Fisher's exact test, genotype P-value = 0.47, allele P-value = 0.69, OR=0.4OR(95%CI)=0.1-3.4 | No significant association was observed in MDD. | Negative |
MDD | HTR4 IVS3+6G/A | HTR4 | point mutation | Association analysis:Fisher's exact test, genotype P-value = 1, allele P-value = 1, OR=0.97OR(95%CI)=0.5-2.0 | No significant association was observed in MDD. | Negative |
MDD | HTR4 IVS3+63C/T | HTR4 | point mutation | Association analysis:Fisher's exact test, genotype P-value = 0.8, allele P-value = 0.84, OR=0.9OR(95%CI)=0.4-2.0 | No significant association was observed in MDD. | Negative |
MDD | HTR4 SVRSNP4 | HTR4 | point mutation | Association analysis:Fisher's exact test, genotype P-value = 0.03, allele P-value = 0.15, OR=1.4OR(95%CI)=0.9-2.3 | Significant associations were found in MDD. | Positive |
Disease | Gene | Description | Result Category |
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SZ | HTR4 | These findings suggest that genomic variations in the HTR4 gene may confer susceptibility to mood disorder. | Negative |
MDD | HTR4 | These findings suggest that genomic variations in the HTR4 gene may confer susceptibility to mood disorder. | Positive |
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
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Last update: March 31, 2016