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The C/C genotype of the C957T polymorphism of the dopamine D2 receptor (DRD2) is associated with schizophrenia

Lawford, Bruce R., Young, Ross McD., Swagell, Christopher D., Barnes, Mark, Burton, Simon C., Ward, Warren K., Heslop, Karen R., Shadforth, Susan, van Daal, Angela M., & Morris, Charles P. (2005) The C/C genotype of the C957T polymorphism of the dopamine D2 receptor (DRD2) is associated with schizophrenia. Schizophrenia Research, 73(1), pp. 31-37.

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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 post-mortem 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.

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ID Code: 1027
Item Type: Journal Article
Keywords: Association, Dopamine, D2 receptor, Genetic, Schizophrenia, C957T, Ross Young, Ross Mcd Young
DOI: 10.1016/j.schres.2004.08.020
ISSN: 0920-9964
Subjects: Australian and New Zealand Standard Research Classification > MEDICAL AND HEALTH SCIENCES (110000) > CLINICAL SCIENCES (110300) > Psychiatry (incl. Psychotherapy) (110319)
Australian and New Zealand Standard Research Classification > MEDICAL AND HEALTH SCIENCES (110000) > NEUROSCIENCES (110900) > Neurosciences not elsewhere classified (110999)
Australian and New Zealand Standard Research Classification > PSYCHOLOGY AND COGNITIVE SCIENCES (170000) > PSYCHOLOGY (170100) > Biological Psychology (Neuropsychology Psychopharmacology Physiological Psychology) (170101)
Australian and New Zealand Standard Research Classification > MEDICAL AND HEALTH SCIENCES (110000) > PUBLIC HEALTH AND HEALTH SERVICES (111700) > Mental Health (111714)
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2005 Elsevier
Copyright Statement: Reproduced in accordance with the copyright policy of the publisher
Deposited On: 18 May 2005
Last Modified: 29 Feb 2012 23:13

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