Abstract
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.
Original language | English (US) |
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Pages (from-to) | 157-161 |
Number of pages | 5 |
Journal | Psychiatry Research |
Volume | 127 |
Issue number | 1-2 |
DOIs | |
State | Published - Jun 30 2004 |
Keywords
- Chromosome 21
- Phosphoinositides
- Polymorphism
- Synaptic vesicle function
ASJC Scopus subject areas
- Psychiatry and Mental health
- Biological Psychiatry