Study Report
Basic Info
| Reference |
Philibert, R. A.,2001 PMID: 11353452
|
| Citation |
Philibert, R. A., D. Cheung, et al. (2001). "Absence of a significant linkage between Na(+),K(+)-ATPase subunit (ATP1A3 and ATP1B3) genotypes and bipolar affective disorder in the old-order Amish." Am J Med Genet 105(3): 291-294.
|
| Disease Type |
Bipolar Disorder |
| Study Design |
affected sib pairs |
| Study Type |
Candidate-gene association study |
| Sample Size |
166 sibling pairs |
| SNP/Region/Marker Size |
2 variants |
| Predominant Ethnicity |
Caucasian |
| Population |
American(the Old Order Amish) |
Detail Info
| Sample Status |
This carefully ascertained study population consisted of the multiplex old-order Amish pedigrees from southeastern Pennsylvania with additional expansions [Ginns et al., 1996, 1998]. This study sample includes 62 individuals with bipolar I (BPI), 16 individuals with bipolar II(BPII), 5 individuals with unipolar depression, and 199 unaffected individuals. |
| Technique |
genotyping |
| Statistical Method |
The model-free Affected Sib-Pair (ASP) mean test from the SAGE Sibpal program was used to assess linkage. This Haseman Elston method was used to measure the overall mean proportion of identity by descent (IBD) allele sharing within unaffected, discordant, and affected sibling pairs (total pairs=166).Three stratification models were tested for designating affected status. Model I affecteds were limited to BPI. Model II broadened the definition to include BPI plus BPII. Model III included BPI, BPII,plus unipolar depressed individuals [American Psychiatric Association, 1994]. |
| Result Summary |
Suggestive levels of statistical significance were not reached in any stratification model for affective illness. Overall, the results do not support linkage of bipolar disorder to the Na(+),K(+)-ATPase alpha subunit gene (ATP1A3) and beta subunit gene (ATP1B3) in these old-order Amish families and they show that these Na(+),K(+)-ATPase subunit genes are not major effect genes (>or=fourfold increased genetic risk of disease) for BPAD in the old-order Amish pedigrees. We cannot exclude other genetic variants of the Na(+),K(+)-ATPase hypothesis for BPAD, whereby other loci may modifying Na(+),K(+)-ATPase activity. |
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 |
| ATP1B3 4E12 |
ATP1B3 |
microsatellite |
CA repeat |
|
Association analysis:P-value = 0.1534 for Model I, P-value = 0.4743 for Model II, P-value = 0.61 for Model III.
|
No significant association was observed.
No significant association was observed.
|
Negative
|
Genes reported by this study for BD (count: 2)
| Gene |
Statistical Values/Author Comments |
Result Category |
| ATP1B3 |
Overall, the results do not support linkage of bipolar disorder to the Na(+), K(+)-ATPase alpha subu......
Overall, the results do not support linkage of bipolar disorder to the Na(+), K(+)-ATPase alpha subunit gene (ATP1A3) and beta subunit gene (ATP1B3) in these old-order Amish families.
More...
|
Negative
|
| ATP1A3 |
Overall, the results do not support linkage of bipolar disorder to the Na(+), K(+)-ATPase alpha subu......
Overall, the results do not support linkage of bipolar disorder to the Na(+), K(+)-ATPase alpha subunit gene (ATP1A3) and beta subunit gene (ATP1B3) in these old-order Amish families.
More...
|
Negative
|
