Study Report - GWAS of bipolar disorder in a British population (HGVST7)
Bookmark
Explore Study in Browser| Identifier | HGVST7 | |||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Study name | GWAS of bipolar disorder in a British population | |||||||||||||||
| Total p-values imported | 95 | |||||||||||||||
| Phenotype(s) tested | Bipolar disorder |
|||||||||||||||
| Study design | Case and control | |||||||||||||||
| Genotype platforms |
Affymetrix 500K Gene Chip | |||||||||||||||
| Abstract | Summary-level data and analysis results of Biopolar Disorder (BD) imported from the Wellcome Trust Case Control Consortium project | |||||||||||||||
| Submission information |
|
|||||||||||||||
Author communication  |
|
|||||||||||||||
| Related links |
WTCCC1 |
|||||||||||||||
| Background | The Wellcome Trust Case Control Consortium (WTCCC) was formed with a view to exploring the utility, design and analyses of GWA studies. It brought together over 50 research groups from the UK that are active in researching the genetics of common human diseases, with expertise ranging from clinical, through genotyping, to informatics and statistical analysis. Bipolar disorder (BD; manic depressive illness) refers to an episodic recurrent pathological disturbance in mood (affect) ranging from extreme elation or mania to severe depression and usually accompanied by disturbances in thinking and behaviour: psychotic features (delusions and hallucinations) often occur. Pathogenesis is poorly understood but there is robust evidence for a substantial genetic contribution to risk | |||||||||||||||
| Objectives | The main experiment consisted of a GWA study of 2,000 cases and 3,000 shared controls for a complex human disease of major public health importance, bipolar disorder (BD). By simultaneously studying bipolar disorder (BD) with other diseases with differing aetiologies, we hoped to develop in sights, not only into the specific genetic contributions to each of the diseases, but also into differences in allelic architecture across the diseases. A further major aim was to address important methodological issues of relevance to all GWA studies, such as quality control, design and analysis. In addition to our main association results, we address several of these issues below, including the choice of controls for genetic studies, the extent of population structure within Great Britain, sample sizes necessary to detect genetic effects of varying sizes, and improvements in genotype-calling algorithms and analytical methods. | |||||||||||||||
| Key results | The strongest signal in BD was with rs420259 at chromosome 16p12 (genotypic test P = 6.3x10-8) and the best-fitting genetic model was recessive. Amongst the other higher ranked signals in the BD data set there is support for the previously suggested importance of GABA neurotransmission (rs7680321 (P = 6.2x10-5) in GABRB1 encoding a ligand-gated ion channel (GABA A receptor, beta 1)), glutamate neurotransmission (rs1485171 (P = 9.7x10-5) in GRM7 (glutamate receptor, metabotropic 7)) and synaptic function (rs11089599 (P = 7.2x10-5) in SYN3 (synapsin III)). | |||||||||||||||
| Conclusions | Not supplied | |||||||||||||||
| Reason for study size | Not supplied | |||||||||||||||
| Study power | Not supplied | |||||||||||||||
| Sources of bias | Not supplied | |||||||||||||||
| Limitations | Not supplied | |||||||||||||||
| Acknowledgements | The principal funder of this project was the Wellcome Trust. Please see publication for the full list of acknowledgements. | |||||||||||||||
| Related citations |
The Wellcome Trust Case Control Consortium
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007 Jun 7;447(7145):661-78 |
