Study Report

Basic Info
Reference |
Munakata, K.,2004 PMID: 15533721
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Citation |
Munakata, K., M. Tanaka, et al. (2004). "Mitochondrial DNA 3644T-->C mutation associated with bipolar disorder." Genomics 84(6): 1041-1050.
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Disease Type |
Bipolar Disorder |
Study Design |
case-control |
Study Type |
Candidate-gene association study |
Sample Size |
199 patients with bipolar disorder and 258 control subjects |
SNP/Region/Marker Size |
2 variants |
Predominant Ethnicity |
Mongloid |
Population |
Japanese |
Gender |
The initial association study:76 male and 123 female for bipolar patients;129 male and 129 female for control subjects. The additional independent sample set in COSMO:214 male and 217 female for bipolar patients;226 male and 250 female for control subjects |
Age Group |
Adults
:
The initial association study:49.8 years of age on average for bipolar patients and 33.0 years of age on average for control subjects;the additional independent sample set in COSMO:49.5 years of age on average for bipolar patients and 50.4 years of age on average for control subjects
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Detail Info
Sample Diagnosis |
DSM |
Sample Status |
Patients with bipolar disorder were diagnosed according to the DSM-III-R or DSM-IV criteria by at least two interview sessions by two senior psychiatrists and a consensus diagnosis was made. Their family history of mental disorder was assessed by interviewing the proband and available relatives. Control subjects were recruited from the staff or students of participating institutes and their friends, who reported themselves to be healthy. |
Replication Size |
431 patients with bipolar disorder and 476 healthy volunteers |
Technique |
genotyping |
Statistical Method |
Fisher's exact test |
Result Summary |
Of these, 3644C was found in 5 of 199 patients with bipolar disorder but in none of 258 controls (p = 0.015). The association was significant in the extended samples [bipolar disorder, 9/630 (1.43%); controls, 1/734 (0.14%); p = 0.007]. |

Other variants reported by this study for BD (count: 1)
Variant Name |
Related Gene |
Type |
Allele Change |
Risk Allele |
Statistical Values |
Author Comments |
Result Category |
mtDNA 3644T>C |
mtDNA |
point mutation |
T>C |
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Association analysis:Fisher's exact test, P-value = 0.015 for initial sample set;P-value = 0.197 for independent sample set;P-value = 0.007 for total sample set.
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Significant association was found in BPD patients.
Significant association was found in BPD patients.
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Positive
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