Analysis of SYNJ1, a candidate gene for 21q22 linked bipolar disorder: a replication study.
- Authors
- Stopkova, Pavla; Vevera, Jan; Paclt, Ivo; Zukov, Ilja; Lachman, Herbert M
- Year
- 2004
- Journal
- Psychiatry research
- PMID
- 15261714
- DOI
- 10.1016/j.psychres.2004.03.003
Linkage analysis has shown that chromosome 21q22 may contain a candidate gene for bipolar disorder (BPD). One potential 21q22 candidate gene we previously analyzed is SYNJ1, which encodes synaptojanin 1, an inositol 5-phosphatase. Previous mutation screening of SYNJ1 identified three rare functional variants, one of which is a polymorphic variant near the intron 12-oxon 12 border. The rare variants were found only in a total of four BPD patients and no controls, and a trend toward significance was found for the intron 12 polymorphism. In an analysis of a new set of 84 bipolar patients, none of the rare variants were detected. There was an increase in allele 2 for the intron 12 polymorphism, similar to our original study, but the result was not significant. The combined data from both studies continue to show a trend toward significance for allele 2 homozygotes in BPD.
No figures extracted from this document.
No chunks — full text not yet ingested.
No entities extracted from this document yet.
No uploaded files.
No citations found.
In this knowledge base
| Title | Year | PMID |
|---|---|---|
| Longevity candidate genes and their association with personality traits in the elderly. | 2012 | 22213687 |
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Coordinated inositide lipid-phosphatase activities of synaptojanin modulates actin cytoskeleton organization. | Zhang T et al. | — | 2024 | → |
| PERK-Mediated Unfolded Protein Response Activation and Oxidative Stress in PARK20 Fibroblasts. | Amodio G et al. | — | 2019 | → |
| The structure of phosphoinositide phosphatases: Insights into substrate specificity and catalysis. | Hsu F et al. | — | 2015 | → |
| Synaptojanin 1 mutation in Parkinson's disease brings further insight into the neuropathological mechanisms. | Drouet V et al. | — | 2014 | → |
| The Sac domain-containing phosphoinositide phosphatases: structure, function, and disease. | Hsu F et al. | — | 2013 | → |
| Hypothesis review: are clathrin-mediated endocytosis and clathrin-dependent membrane and protein trafficking core pathophysiological processes in schizophrenia and bipolar disorder? | Schubert KO et al. | — | 2012 | → |
| Longevity candidate genes and their association with personality traits in the elderly. | Luciano M et al. | — | 2012 | → |
| Sparse reduced-rank regression detects genetic associations with voxel-wise longitudinal phenotypes in Alzheimer's disease. | Vounou M et al. | — | 2012 | → |
| Synaptic polarity depends on phosphatidylinositol signaling regulated by myo-inositol monophosphatase in Caenorhabditis elegans. | Kimata T et al. | — | 2012 | → |
| Dynamic control of neuroexocytosis by phosphoinositides in health and disease. | Wen PJ et al. | — | 2011 | → |
| Disease gene characterization through large-scale co-expression analysis. | Day A et al. | — | 2009 | → |
| Mutations in phosphoinositide metabolizing enzymes and human disease. | McCrea HJ et al. | — | 2009 | → |
| Ethanol-responsive genes: identification of transcription factors and their role in metabolomics. | Uddin RK et al. | — | 2007 | → |
| Molecular genetics of bipolar disorder and depression. | Kato T | — | 2007 | → |
| Phosphoinositide phosphatases in a network of signalling reactions. | Blero D et al. | — | 2007 | → |
| PtdIns-4,5-P2 as a potential therapeutic target for pathologic angiogenesis. | Im E et al. | — | 2007 | → |
| The physiology of phosphoinositides. | Sasaki T et al. | — | 2007 | → |
| An emerging role for PtdIns(4,5)P2-mediated signalling in human disease. | Halstead JR et al. | — | 2005 | → |