Study Report
Basic Info
Reference |
Avramopoulos, D.,2004 PMID: 14966477
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Citation |
Avramopoulos, D., V. L. Willour, et al. (2004). "Linkage of bipolar affective disorder on chromosome 8q24: follow-up and parametric analysis." Mol Psychiatry 9(2): 191-196.
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Disease Type |
Bipolar Disorder |
Study Design |
pedigree |
Study Type |
Candidate-region linkage study |
Sample Size |
65 pedigrees with 573 typed subjects(for a narrow phenotypic model, where the 129 BPI, 97 BPII, and 7 SAM study subjects were considered affected, and for a broad phenotypic model where the 69 RUP subjects were also considered affected.) |
SNP/Region/Marker Size |
19 microsatellite markers for one region |
Predominant Ethnicity |
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Population |
American |
Detail Info
Statistical Method |
Nonparametric multipoint linkage analyses were performed with the GENEHUNTER-PLUS modification of the GENEHUNTER package.Parametric analyses were performed using the computer program FASTLINK V4.016 and LODSCORE from the LINKAGE 5.10 program package. |
Result Summary |
After the addition of the new data, the original NPL score slightly increased to 3.25. Two-point parametric analysis using the model employed by Cichon et al obtained an LOD score of 3.32 for marker D8S256 at theta=0.14 exceeding the proposed threshold for genomewide significance. After adjusting the parameters in accordance with the 'common disease-common variant' hypothesis, multipoint parametric analysis resulted in an HLOD of 2.49 (alpha=0.78) between D8S529 and D8S256, and defined a 1-LOD interval corresponding to a 2.3 Mb region. No allelic association with the disease was observed for our set of microsatellite markers. Biologically, plausible candidate genes in this region include thyroglobulin, KCNQ3 coding for a voltage-gated potassium channel and the gene for brain adenyl-cyclase (ADCY8). |
Regions reported by this study for BD (count: 1)
Region |
Statistical Values |
Author Comments |
Result Category |
8q24 |
Linkage analysis: for Narrow phenotypic model (BPI, BPII, SAM), NPL = 3.25, two-point LOD = 3.32, HLOD = 2.39; for Broad phenotypic model (BPI, BPII, SAM, RUP), NPL = 2.64, two-point LOD = 1.93, HLOD = 1.45
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The LOD score for D8S256 was 3.32, which exceeds the thresho......
The LOD score for D8S256 was 3.32, which exceeds the threshold for genomewide significance (3.3 for parametric analysis).
More...
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Positive
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