The importance of genes in the etiology of bipolar disorder (BD) has been substantiated through family, twin and adoption studies. The search for susceptibility genes, however, has proved to be an arduous task with disease complexity leading to the non-replication of published results. We have used lithium treatment response as a classification variable, thus providing a phenotypically more homogeneous sample to work with. With this sample we carried out pharmacogenetic studies to identify genes involved in the etiology of BD and/or in the response to Li. The phosphoinositide and cAMP pathway have been shown to be involved in Li's mode of action. Thus, a gene responsible for regulating inositol metabolism (prolyl endopeptidase, PREP) and three cAMP responsive element binding proteins (CREB1-3) were investigated. We have found an association indicating a possible role of CREB1 and 2 in the etiology of BD and Li response. Further studies in larger, independent samples and the analysis of additional markers should be undertaken to confirm these findings.
| Identifer | oai:union.ndltd.org:LACETR/oai:collectionscanada.gc.ca:QMM.82285 |
| Date | January 2004 |
| Creators | Mamdani, Firoza |
| Publisher | McGill University |
| Source Sets | Library and Archives Canada ETDs Repository / Centre d'archives des thèses électroniques de Bibliothèque et Archives Canada |
| Language | English |
| Detected Language | English |
| Type | Electronic Thesis or Dissertation |
| Format | application/pdf |
| Coverage | Master of Science (Department of Human Genetics.) |
| Rights | All items in eScholarship@McGill are protected by copyright with all rights reserved unless otherwise indicated. |
| Relation | alephsysno: 002207366, proquestno: AAIMR12496, Theses scanned by UMI/ProQuest. |
Page generated in 0.0018 seconds