Study Report

Basic Info
| Reference |
Zandi, P. P., 2008 (b) PMID: 18163389
|
| Citation |
Zandi, P. P., S. Zollner, et al. (2008). "Family-based SNP association study on 8q24 in bipolar disorder." Am J Med Genet B Neuropsychiatr Genet 147B(5): 612-618.
|
| Disease Type |
Bipolar I Disorder |
| Study Design |
family-based |
| Study Type |
Candidate-gene association study |
| Sample Size |
3512 subjects, 1954 of whom were affected with BP, from 737 multiplex families. |
| SNP/Region/Marker Size |
1458 SNPs |
| Predominant Ethnicity |
Caucasian |
| Population |
European |
| Gender |
The final dataset consisted of 3,512 genotyped subjects, including 1,383 males and 2,129 females. |

Detail Info
| Sample Diagnosis |
Diagnostic Interview for Genetic Studies (DIGS); Research Diagnostic Criteria (RDC); DSM-III-R or DSM-IV |
| Technique |
genotyping |
| Statistical Method |
Single-locus tests were carried out with FBAT and Geno-PDT, and multi-locus test were carried out with HBAT and multi-locus Geno-PDT. |
| Result Summary |
None of the SNPs were associated with BP in the single-locus tests at a level that exceeded our threshold for study-wide significance. However, there was consistent evidence at our threshold for the suggestive level from both the single locus and multi-locus tests of associations with SNPs in the genes ADCY8, ST3GAL1, and NSE2. Multi-locus analyses suggested joint effects between ADCY8 and ST3GAL1, with at least one copy of the ''high risk'' allele required at both genes for association with BP, consistent with a jointly dominant-dominant model of action. These findings with ADCY8 and ST3GAL1 warrant further investigation in order to confirm the observed associations and their functional significance for BP susceptibility. |

SNPs reported by this study for BD (count: 6)
| SNP |
Related Gene(s) |
Allele Change |
Risk Allele |
Statistical Values |
Author Comments |
Result Category |
| rs10101440 |
|
T/G |
G |
FBAT allelic P-value = 4.99E-04 ; Geno-PDT genotypic P-value = 1.10E-03
|
None of the SNPs were associated with BP in the single-locus......
None of the SNPs were associated with BP in the single-locus tests at a level that exceeded our threshold for study-wide significance (P<3.00E-05).
More...
|
Positive
|
| rs3750889 |
ADCY8
|
A/G |
G |
FBAT allelic P-value = 3.40E-04 ; Geno-PDT genotypic P-value = 2.63E-02
|
None of the SNPs were associated with BP in the single-locus......
None of the SNPs were associated with BP in the single-locus tests at a level that exceeded our threshold for study-wide significance (P<3.00E-05).
More...
|
Positive
|
| rs6986303 |
ST3GAL1
|
G/A |
A |
FBAT allelic P-value = 2.82E-04 ; Geno-PDT genotypic P-value = 6.60E-03
|
None of the SNPs were associated with BP in the single-locus......
None of the SNPs were associated with BP in the single-locus tests at a level that exceeded our threshold for study-wide significance (P<3.00E-05).
More...
|
Positive
|
| rs1411187 |
ADCY8
|
A/G |
G |
FBAT allelic P-value = 6.70E-04 ; Geno-PDT genotypic P-value = 1.30E-02
|
None of the SNPs were associated with BP in the single-locus......
None of the SNPs were associated with BP in the single-locus tests at a level that exceeded our threshold for study-wide significance (P<3.00E-05).
More...
|
Positive
|
| rs1668875 |
CASC8
|
C/G |
G |
FBAT allelic P-value = 6.75E-03 ; Geno-PDT genotypic P-value = 5.00E-04
|
None of the SNPs were associated with BP in the single-locus......
None of the SNPs were associated with BP in the single-locus tests at a level that exceeded our threshold for study-wide significance (P<3.00E-05).
More...
|
Positive
|
| rs7462286 |
ASAP1
|
T/C |
C |
FBAT allelic P-value = 1.73E-01 ; Geno-PDT genotypic P-value = 7.00E-04
|
None of the SNPs were associated with BP in the single-locus......
None of the SNPs were associated with BP in the single-locus tests at a level that exceeded our threshold for study-wide significance (P<3.00E-05).
More...
|
Positive
|

Haplotypes reported by this study for BD (count: 1)
| Markers |
Haplotype |
Related Gene(s)/Region(s) |
Statistical Values |
Author Comments |
Result Category |
| rs1411187 - rs6986303 |
|
ADCY8
ST3GAL1
|
Global X<sup>2</sup>=28.90; global P-value = 3.0E-04
|
Multi-locus analyses suggested joint effects between ADCY8 a......
Multi-locus analyses suggested joint effects between ADCY8 and ST3GAL1 , with at least one copy of the ''high risk'' allele required at both genes for association with BP
More...
|
Positive
|

Genes reported by this study for BD (count: 3)
| Gene |
Statistical Values/Author Comments |
Result Category |
| ST3GAL1 |
None of the SNPs were associated with BP in the single-locus tests at a level that exceeded our thre......
None of the SNPs were associated with BP in the single-locus tests at a level that exceeded our threshold for study-wide significance (P<3.00E-05). However, there was consistent evidence at our threshold for the suggestive level (P<7.00E-04) from both the single locus and multi-locus tests of associations with SNPs in the genes ADCY8, ST3GAL1, and NSE2.
More...
|
Positive
|
| ADCY8 |
None of the SNPs were associated with BP in the single-locus tests at a level that exceeded our thre......
None of the SNPs were associated with BP in the single-locus tests at a level that exceeded our threshold for study-wide significance (P<3.00E-05). However, there was consistent evidence at our threshold for the suggestive level (P<7.00E-04) from both the single locus and multi-locus tests of associations with SNPs in the genes ADCY8, ST3GAL1, and NSE2.
More...
|
Positive
|
| FAM84B |
None of the SNPs were associated with BP in the single-locus tests at a level that exceeded our thre......
None of the SNPs were associated with BP in the single-locus tests at a level that exceeded our threshold for study-wide significance (P<3.00E-05). However, there was consistent evidence at our threshold for the suggestive level (P<7.00E-04) from both the single locus and multi-locus tests of associations with SNPs in the genes ADCY8, ST3GAL1, and NSE2.
More...
|
Positive
|

Gene-gene interactions reported by this study for BD (count: 1)
| Gene Group |
Markers |
Statistical Values |
Author Comments |
Result Category |
|
ADCY8
ST3GAL1
|
rs1411187 - rs6986303 |
Global X2=28.90; global P-value = 3.0E-04
|
Multi-locus analyses suggested joint effects between ADCY8 a......
Multi-locus analyses suggested joint effects between ADCY8 and ST3GAL1 , with at least one copy of the ''high risk'' allele required at both genes for association with BP.
More...
|
Positive
|