Investigation of Notch3 as a candidate gene for bipolar disorder using brain hyperintensities as an endophenotype.
The purpose of the study was to consider MRI hyperintensities as a potential endophenotype for bipolar disorder (BPD) and to investigate Notch3 (CADASIL) as a candidate gene for BPD. MRI scans were performed on 21 members of a family with a high incidence of BPD. Two-point and multipoint linkage analyses were performed and two exons of Notch3 were investigated with SSCP. Fifteen of 21 family members had MRI hyperintensities, including all bipolar patients and six family members with no affective illness. Two-point linkage analysis yielded negative results for all models. Multipoint linkage analysis yielded negative results except for Model 1a, in which a maximal LOD score was -1.24. A mutation screen of Exons 3 and 4 was negative. Notch3 does not appear to be a candidate gene for BPD in this family.
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- Receptors, Notch
- Receptors, Cell Surface
- Receptor, Notch3
- Proto-Oncogene Proteins
- Polymorphism, Single-Stranded Conformational
- Pedigree
- Models, Genetic
- Middle Aged
- Male
- Magnetic Resonance Imaging
Citation
Published In
DOI
ISSN
Publication Date
Volume
Issue
Start / End Page
Location
Related Subject Headings
- Receptors, Notch
- Receptors, Cell Surface
- Receptor, Notch3
- Proto-Oncogene Proteins
- Polymorphism, Single-Stranded Conformational
- Pedigree
- Models, Genetic
- Middle Aged
- Male
- Magnetic Resonance Imaging