Study Report
Basic Info
| Reference |
Williams, H. J.,2011 PMID: 21037240
|
| Citation |
Williams, H. J., N. Craddock, et al. (2011). "Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries." Hum Mol Genet 20(2): 387-391.
|
| Disease Type |
Bipolar Disorder & Schizophrenia |
| Study Design |
case-control |
| Study Type |
Candidate-gene association study |
| Sample Size |
UK GWAS schizophrenia data set (479 cases, 2937 controls) and WTCCC BD data set |
| SNP/Region/Marker Size |
6 SNPs |
| Predominant Ethnicity |
|
| Population |
WTCCC collection and UK GWAS data |
Detail Info
| Statistical Method |
Genome-wide imputation was performed using Mach 1.0 (20) with the 1000 genomes-Sanger 2009-08 data release (http://www.sph.umich.edu/csg/yli/mach/download/1000G-Sanger-0908.html) as the reference source for the variants to be imputed.Tests for association were with a likelihood ratio test using mach2dat. |
| Result Summary |
Using data sets entirely independent of their original discoveries, we observed strong evidence that the PBRM1 locus is also associated with schizophrenia (P = 0.00015) and nominally significant evidence (P < 0.05) that the NRGN and the extended MHC region are associated with BD. Moreover, considering this highly restricted set of loci as a group, the evidence for trans-disorder effects is compelling (P = 4.7 x 10(-5)). Including earlier reported data for trans-disorder effects for ZNF804A and CACNA1C, six out of eight of the most robustly associated loci for either disorder show trans-disorder effects. |
SNPs reported by this study for BD (count: 4)
| SNP |
Related Gene(s) |
Allele Change |
Risk Allele |
Statistical Values |
Author Comments |
Result Category |
| rs6932590 |
POM121L2
|
|
|
Armitage trend test: P-value = 0.04, OR=1.09, 95%CI=(0.99-1.18)
|
Significant association was found.
Significant association was found.
|
Positive
|
| rs3131296 |
NOTCH4
|
|
|
Armitage trend test: P-value = 0.01, OR=1.14, 95%CI=(1.02-1.25)
|
Significant association was found.
Significant association was found.
|
Positive
|
| rs9960767 |
TCF4
TCF7L2
|
|
|
Armitage trend test: P-value = 0.92, OR=0.99, 95%CI=(0.80-1.18)
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No significant association was observed in BD.
No significant association was observed in BD.
|
Negative
|
| rs12807809 |
NRGN
|
|
|
Armitage trend test: P-value = 0.02, OR=1.14, 95%CI=(1.01-1.27)
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Significant association was found.
Significant association was found.
|
Positive
|
Genes reported by this study for BD (count: 2)
| Gene |
Statistical Values/Author Comments |
Result Category |
| TCF4 |
Using data sets entirely independent of their original discoveries, we observed no significant evide......
Using data sets entirely independent of their original discoveries, we observed no significant evidence (P < 0.05) that the TCF4 region is associated with BD.
More...
|
Negative
|
| NRGN |
Using data sets entirely independent of their original discoveries, we observed nominally significan......
Using data sets entirely independent of their original discoveries, we observed nominally significant evidence (P < 0.05) that the extended MHC region is associated with BD.
More...
|
Positive
|
