Study Report
Basic Info
| Reference |
Swift-Scanlan, T., 2002 PMID: 11901359
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| Citation |
Swift-Scanlan, T., T. H. Lan, et al. (2002). "Genetic analysis of the (CTG)n NOTCH4 polymorphism in 65 multiplex bipolar pedigrees." Psychiatr Genet 12(1): 43-47.
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| Disease Type |
Bipolar Disorder |
| Study Design |
pedigree |
| Study Type |
Candidate-gene association study |
| Sample Size |
65 BPAD pedigrees |
| SNP/Region/Marker Size |
1 variant |
| Predominant Ethnicity |
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| Population |
American |
Detail Info
| Sample Status |
We genotyped the (CTG)n-encoding polyleucine polymorphism of NOTCH4 in our 65 BPAD pedigrees. Additionally, we analyzed a subset of 30 of these pedigrees defined by the proband and at least one additional first-degree relative having psychotic features (hallucinations and/or delusions). The number of affected siblings per family ranges from two to eight, with an overall average of three affected siblings for our 65 pedigrees.The more phenotypically narrow model (designated 'BP') included bipolar I (BPI), bipolar II (BPII) and schizoaffective manic (SA-M) diagnoses. The phenotypically broader affection model (designated'BPUP') included BPI, BPII, SA-M, and recurrent unipolar diagnoses. |
| Technique |
genotyping |
| Statistical Method |
Transmission Disequilibrium Test (TDT) |
| Result Summary |
We failed to find any association between the (CTG)n NOTCH4 polymorphism and either the bipolar or the psychotic bipolar phenotype in our 65 pedigrees. |
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 |
| NOTCH4 (CTG)n |
NOTCH4 |
microsatellite |
(CTG)n |
(CTG)13 |
Association analysis:TDT, P-value > 0.05 for allele (CTG)5, (CTG)6, (CTG)9, (CTG)10, (CTG)11, (CTG)12 for all affection model;P-value = 0.012 for Bpa model, P-value = 0.02 for BPUPb model for allele (CTG)13.
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Significant association was found in allele (CTG)13 for BD.
Significant association was found in allele (CTG)13 for BD.
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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 |
| NOTCH4 |
We failed to find any association between the (CTG)n NOTCH4 polymorphism and either the bipolar or t......
We failed to find any association between the (CTG)n NOTCH4 polymorphism and either the bipolar or the psychotic bipolar phenotype in our 65 pedigrees.
More...
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Negative
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