Study Report

Basic Info
| Reference |
Niesler, B.,2001(a) PMID: 11505217
|
| Citation |
Niesler, B., T. Flohr, et al. (2001). "Association between the 5' UTR variant C178T of the serotonin receptor gene HTR3A and bipolar affective disorder." Pharmacogenetics 11(6): 471-475.
|
| Disease Type |
Bipolar Disorder |
| Study Design |
case-control |
| Study Type |
Candidate-gene association study |
| Sample Size |
156 patients with bipolar disorder compared to 156 healthy controls |
| SNP/Region/Marker Size |
2 variants |
| Predominant Ethnicity |
Caucasian |
| Population |
German |

Detail Info
| Sample Diagnosis |
DSM |
| Sample Status |
Further information on the analysed patient and control pool are available elsewhere (Niesler et al.,2001). |
| Technique |
genotyping |
| Statistical Method |
chi-square tests |
| Result Summary |
No significant association was found between the C195T polymorphism and bipolar affective disorder. A significant association was, however, found between the variant C178T in 156 patients with bipolar disorder compared to 156 healthy controls (P = 0.00016). To investigate the relevance of this variant on gene expression, luciferase reporter constructs containing the C178T (Pro16Ser) allele were established and compared to the C178T plus C195T and wild-type alleles. Reporter constructs containing the C178T (Pro16Ser) allele drove 245% and 138% expression compared to the wild-type allele. These findings show that the C178T(Pro16Ser) variant in HTR3A may represent a functional variant and affect the susceptibility to bipolar disorder. |

Other variants reported by this study for BD (count: 2)
| Variant Name |
Related Gene |
Type |
Allele Change |
Risk Allele |
Statistical Values |
Author Comments |
Result Category |
| HTR3A C178T |
HTR3A |
point mutation |
C178T |
|
Association analysis:chi-square tests, P-value = 0.00016
|
Significant association was found in BPD patients.
Significant association was found in BPD patients.
|
Positive
|
| HTR3A C195T |
HTR3A |
point mutation |
C195T |
|
Association analysis:chi-square tests, P-value > 0.05
|
No significant association was observed in BD.
No significant association was observed in BD.
|
Negative
|

Genes reported by this study for BD (count: 1)
| Gene |
Statistical Values/Author Comments |
Result Category |
| HTR3A |
These findings show that the C178T(Pro16Ser) variant in HTR3A may represent a functional variant and......
These findings show that the C178T(Pro16Ser) variant in HTR3A may represent a functional variant and affect the susceptibility to bipolar disorder.
More...
|
Positive
|