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The C - C Genotype of the C957T Polymorphism of the Dopamine D2 Receptor is Associated with Schizophrenia187.25 kB
Accepted VersionCC BY-NC-ND V4.0, Open Access
Journal article
The C/C genotype of the C957T polymorphism of the dopamine D2 receptor is associated with schizophrenia
Schizophrenia Research, Vol.73(1), pp.31-37
2005
PMID: 15567074
Abstract
The T allele of the human dopamine D2 receptor (DRD2) gene C957T polymorphism is associated with reduced mRNA translation and stability. This results in decreased dopamine induced DRD2 upregulation and decreased in vivo D2 dopamine binding. Conversely, the C allele of the C957T polymorphism is not associated with such changes in mRNA leading to increased DRD2 expression. PET and postmortem binding studies show that schizophrenia is often associated with increased DRD2 availability. We report that on the basis of comparing the frequencies of the C/C and T/T genotypes of 153 patients with schizophrenia and 148 controls that schizophrenia is associated with the C/C genotype. The C957T shows a population attributable risk for schizophrenia of 24% and an attributable risk in those with schizophrenia of 42%. Increased expression of D2 receptors associated with the C allele is likely to be important in the underlying pathophysiology of at least some forms of schizophrenia. Enhanced understanding of schizophrenia afforded by this finding may lead to advances in treatment and prevention.
Details
- Title
- The C/C genotype of the C957T polymorphism of the dopamine D2 receptor is associated with schizophrenia
- Authors
- Bruce R Lawford (Author) - 61USC_INST___RBHRoss Young (Author) - Queensland University of TechnologyChristopher D Swagell (Author) - Queensland University of TechnologyMark Barnes (Author) - 61USC_INST___RBHSimon C Burton (Author) - 61USC_INST___RBHWarren K Ward (Author) - 61USC_INST___RBHKaren R Heslop (Author) - 61USC_INST___RBHSusan Shadforth (Author) - Greenslopes Private HospitalAngela van Daal (Author) - Queensland University of TechnologyC. Phillip Morris (Author) - Queensland University of Technology
- Publication details
- Schizophrenia Research, Vol.73(1), pp.31-37
- Publisher
- Elsevier BV
- Date published
- 2005
- DOI
- 10.1016/j.schres.2004.08.020
- ISSN
- 1573-2509; 0920-9964
- PMID
- 15567074
- Copyright note
- Copyright © 2005. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/
- Organisation Unit
- University of the Sunshine Coast, Queensland; Office of the Deputy Vice-Chancellor (Research and Innovation)
- Language
- English
- Record Identifier
- 99551004502621
- Output Type
- Journal article
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- Psychiatry
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