Study Report

Basic Info
| Reference |
Itokawa, M.,2003 PMID: 12809987
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| Citation |
Itokawa, M., K. Yamada, et al. (2003). "Genetic analysis of a functional GRIN2A promoter (GT)n repeat in bipolar disorder pedigrees in humans." Neurosci Lett 345(1): 53-56.
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| Disease Type |
Bipolar Disorder |
| Study Design |
family-based |
| Study Type |
Candidate-gene association study |
| Sample Size |
96 families with 536 individuals |
| SNP/Region/Marker Size |
1 variant |
| Predominant Ethnicity |
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| Population |
NIMH collections |

Detail Info
| Statistical Method |
We performed a family-based linkage/association analysis by the pedigree disequilibrium test (PDT) (program version 3.12 available from http://www.chg.mc.duke.edu/software/pdt.html).Given the uncertainty regarding the spectrum of inherited mood disorder illnesses, we used three affection status models (ASMs). ASM I included bipolar I and schizoaffective disorder. ASM II was composed of ASM I phenotype plus bipolar II. ASM III contained unipolar recurrent depression in addition to ASM II phenotype.Under model I, there were 121 affected sib pairs, and 227 affected relative pairs. Model II contained 197 affected sib pairs and 324 affected relative pairs, and model III included 282 affected sib pairs and 412 affected relative pairs. |
| Result Summary |
Family-based association tests detected a nominally significant preferential transmission of longer alleles in a panel of 96 multiplex bipolar pedigrees. These results support the hypothesis that a hypoglutamatergic state is involved in the pathogenesis of bipolar affective disorder. |

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 |
| GRIN2A promoter (GT)n |
GRIN2A |
microsatellite |
19 repeat-32 repeat |
|
Association analysis: allele with 24 repeats:PDT-ave statistic P-value = 0.005 under ASM I; P-value = 0.020 under ASM II; P-value = 0.027 under ASM III) and the PDT-sum statistic P-value = 0.020 under ASM I. The allele with 25 repeats, P-value = 0.033 in the PDT-sum statistic and P-value = 0.059 under ASM III in the PDT-ave statistic.global PDT P-value > 0.05 after correcting for multiple tests
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The allele with 24 repeats was significantly transmitted to ......
The allele with 24 repeats was significantly transmitted to affected offspring from parents.The allele with 25 repeats showed a significant excess of transmission.
More...
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Positive
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Genes reported by this study for BD (count: 1)
| Gene |
Statistical Values/Author Comments |
Result Category |
| GRIN2A |
Our current finding that shows the over transmission of (GT)24 and (GT)25 alleles to affected offspr......
Our current finding that shows the over transmission of (GT)24 and (GT)25 alleles to affected offspring may support the hypoglutamatergic hypothesis for bipolar disorder.
More...
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Positive
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