Study Report
Basic Info
| Reference |
Hughes, T., 2015 PMID: 26682468
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| Citation |
Hughes, T., et al. (2015). "A Loss-of-Function Variant in a Minor Isoform of ANK3 Protects Against Bipolar Disorder and Schizophrenia." Biol Psychiatry.
|
| Disease Type |
Bipolar Disorder & Schizophrenia |
| Study Design |
case-control |
| Study Type |
Candidate-gene association study |
| Sample Size |
402 patients with bipolar disorder, 293 patients with schizophrenia, 330 healthy control |
| Predominant Ethnicity |
|
| Population |
Norwegian |
Detail Info
| Sample Diagnosis |
DSM-IV |
| Sample Status |
Patients had to fulfill the criteria for a DSM-IV diagnosis of a psychotic spectrum disorder, be >= 18 years old at inclusion, and be willing and able to provide written informed consent. |
| Replication Size |
2286 BD cases, 5414 control |
| Technique |
genotyped by Illumina Human Exome BeadChip |
| Result Summary |
Our results suggest that an elevated expression of this transcript starting in adolescence may be an important factor in the pathophysiology of schizophrenia and bipolar disorder. |
SNPs reported by this study for BD (count: 1)
| SNP |
Related Gene(s) |
Allele Change |
Risk Allele |
Statistical Values |
Author Comments |
Result Category |
| rs41283526 |
ANK3
|
A/G |
|
P-value=2.8E-03, OR=0.31 for BD; P-value=1.7E-03, OR=0.21 for SCZ; P-value=9.7E-05, OR=0.26 for BD and SCZ.
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The splice site single nucleotide polymorphism (rs41283526) ......
The splice site single nucleotide polymorphism (rs41283526) is located in an alternatively spliced exon of ANK3 and has a strong and significant protective effect against bipolar disorder and schizophrenia. The minor allele of rs41283526 is a loss-of-function variant that disables the correct splicing of the transcript.
More...
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Positive
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