Abstract
Although bipolar disorder is highly heritable, the identification of specific genetic variations is limited because of the complex traits underlying the disorder. We performed a genome-wide association study of bipolar disorder using a subphenotype that shows hypersomnia symptom during a major depressive episode. We investigated a total of 2,191 cases, 1,434 controls, and 703,012 single nucleotide polymorphisms (SNPs) in the merged samples obtained from the Translational Genomics Institute and the Genetic Association Information Network. The gene emerging as the most significant by statistical analysis was rs1553441 (odds ratio=0.4093; p=1.20×10<sup>-5</sup>; Permuted p=6.0×10<sup>-6</sup>). However, the 5×10<sup>-8</sup> threshold for statistical significance required in a genome-wide association study was not achieved. The functional enrichment pathway analysis showed significant enrichments in the adhesion, development-related, synaptic transmission- related, and cell recognition-related pathways. For further evaluation, each gene of the enriched pathways was reviewed and matched with genes that were suggested to be associated with psychiatric disorders by previous genetic studies. We found that the cadherin 13 and hypocretin (orexin) receptor 2 genes may be involved in the hypersomnia symptom during a major depressive episode of bipolar disorder.
| Original language | English |
|---|---|
| Pages (from-to) | 402-407 |
| Number of pages | 6 |
| Journal | Psychiatry Investigation |
| Volume | 12 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - 2015 Jul 1 |
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Keywords
- Bipolar depression
- Bipolar disorder
- Functional enrichment pathway analysis
- Genome-wide association study
- Hypersomnia
ASJC Scopus subject areas
- Psychiatry and Mental health
- Biological Psychiatry
Cite this
CDH13 and HCRTR2 may be associated with hypersomnia symptom of bipolar depression : A genome-wide functional enrichment pathway analysis. / Cho, Chul Hyun; Lee, Heon-Jeong; Woo, Hyun Goo; Choi, Ji Hye; Greenwood, Tiffany A.; Kelsoe, John R.
In: Psychiatry Investigation, Vol. 12, No. 3, 01.07.2015, p. 402-407.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - CDH13 and HCRTR2 may be associated with hypersomnia symptom of bipolar depression
T2 - A genome-wide functional enrichment pathway analysis
AU - Cho, Chul Hyun
AU - Lee, Heon-Jeong
AU - Woo, Hyun Goo
AU - Choi, Ji Hye
AU - Greenwood, Tiffany A.
AU - Kelsoe, John R.
PY - 2015/7/1
Y1 - 2015/7/1
N2 - Although bipolar disorder is highly heritable, the identification of specific genetic variations is limited because of the complex traits underlying the disorder. We performed a genome-wide association study of bipolar disorder using a subphenotype that shows hypersomnia symptom during a major depressive episode. We investigated a total of 2,191 cases, 1,434 controls, and 703,012 single nucleotide polymorphisms (SNPs) in the merged samples obtained from the Translational Genomics Institute and the Genetic Association Information Network. The gene emerging as the most significant by statistical analysis was rs1553441 (odds ratio=0.4093; p=1.20×10-5; Permuted p=6.0×10-6). However, the 5×10-8 threshold for statistical significance required in a genome-wide association study was not achieved. The functional enrichment pathway analysis showed significant enrichments in the adhesion, development-related, synaptic transmission- related, and cell recognition-related pathways. For further evaluation, each gene of the enriched pathways was reviewed and matched with genes that were suggested to be associated with psychiatric disorders by previous genetic studies. We found that the cadherin 13 and hypocretin (orexin) receptor 2 genes may be involved in the hypersomnia symptom during a major depressive episode of bipolar disorder.
AB - Although bipolar disorder is highly heritable, the identification of specific genetic variations is limited because of the complex traits underlying the disorder. We performed a genome-wide association study of bipolar disorder using a subphenotype that shows hypersomnia symptom during a major depressive episode. We investigated a total of 2,191 cases, 1,434 controls, and 703,012 single nucleotide polymorphisms (SNPs) in the merged samples obtained from the Translational Genomics Institute and the Genetic Association Information Network. The gene emerging as the most significant by statistical analysis was rs1553441 (odds ratio=0.4093; p=1.20×10-5; Permuted p=6.0×10-6). However, the 5×10-8 threshold for statistical significance required in a genome-wide association study was not achieved. The functional enrichment pathway analysis showed significant enrichments in the adhesion, development-related, synaptic transmission- related, and cell recognition-related pathways. For further evaluation, each gene of the enriched pathways was reviewed and matched with genes that were suggested to be associated with psychiatric disorders by previous genetic studies. We found that the cadherin 13 and hypocretin (orexin) receptor 2 genes may be involved in the hypersomnia symptom during a major depressive episode of bipolar disorder.
KW - Bipolar depression
KW - Bipolar disorder
KW - Functional enrichment pathway analysis
KW - Genome-wide association study
KW - Hypersomnia
UR - http://www.scopus.com/inward/record.url?scp=84937838562&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84937838562&partnerID=8YFLogxK
U2 - 10.4306/pi.2015.12.3.402
DO - 10.4306/pi.2015.12.3.402
M3 - Article
VL - 12
SP - 402
EP - 407
JO - Psychiatry Investigation
JF - Psychiatry Investigation
SN - 1738-3684
IS - 3
ER -