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Dopamine D2 receptor gene Ser311Cys variant and schizophrenia: Association study and meta-analysis
Umeå University, Faculty of Medicine, Clinical Sciences.
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2003 (English)In: American Journal of Medical Genetics, ISSN 0148-7299, Vol. 119B, no 1, 28-34 p.Article in journal (Refereed) Published
Abstract [en]

An association has been reported between a dopamine D(2) receptor gene (DRD2) Ser311Cys variant and schizophrenia. In a replication attempt, Swedish patients with schizophrenia (n = 173) and control subjects (n = 236) were assessed for the DRD2 Ser311Cys variant. Schizophrenic patients displayed higher Cys311 allele frequencies than control subjects (4.0 vs. 0.8%, chi(2) = 9.49, df = 1, P = 0.002; odds ratio (OR) 4.93, 95% confidence interval (95% CI) 1.61-15.12). The association was detected only in men. The results were supported by a meta-analysis of all published case-control studies comprising a total of 9,152 subjects (chi(2) = 11.37, df = 1, P < 0.001; OR 1.43, 95% CI 1.16-1.78). The present results support the involvement of the DRD2 gene in the pathogenesis of schizophrenia. Copyright 2003 Wiley-Liss, Inc.

Place, publisher, year, edition, pages
2003. Vol. 119B, no 1, 28-34 p.
Keyword [en]
genetics, dopamine D2 receptor gene locus (DRD2), dopamine receptors
URN: urn:nbn:se:umu:diva-4832DOI: 10.1002/ajmg.b.20004PubMedID: 12707934OAI: diva2:144082
Available from: 2005-11-17 Created: 2005-11-17Bibliographically approved
In thesis
1. Diagnostic Evaluation of Schizophrenia for Genetic Studies
Open this publication in new window or tab >>Diagnostic Evaluation of Schizophrenia for Genetic Studies
2005 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

Schizophrenia is one of the most severe mental disorders. Heredity is accepted as a major causative factor. To find molecular mechanisms behind schizophrenia, patient materials with reliable and valid diagnoses must be identified. In order to compare schizophrenia diagnostic procedures for reliability, validity and suitability for genetic studies by evaluation of record information, interview and register diagnostic data and to examine patient materials for linkage or association with molecular genetic markers three patient materials were recruited: sporadic cases, a large pedigree and sib-pairs.

Schizophrenia diagnoses based on patient records only, showed good to excellent agreement with diagnoses based on both records and interviews. Register diagnoses generally displayed poor agreement with research diagnoses, but in 94% of patients sometimes registered as schizophrenic psychoses a research diagnosis of these disorders was certified. In the pedigree, analysis suggested linkage to chr 6p23 in a single branch of the pedigree, and a genome scan indicated linkage to the 6q25 region. A genome scan analysis of the sib-pair material was suggestive of linkage to chr 10q25.3-q26.3. In the case-control sample and a meta-analysis there was an association between a dopamine D2 receptor polymorphism (Ser311Cys), on chr 11q22-23, and the disorder. Brain-derived neurotrophic factor gene variants (chr 11p13) were also analysed without any robust significant findings.

For patients in long-term treatment for schizophrenia in Sweden, psychiatric record reviews should be valid, reliable and sufficient for assessment of lifetime research diagnosis. Swedish register diagnosis of schizophrenic psychoses has a high positive predictive power in relation to corresponding research diagnoses. For future Swedish studies focusing on a broad definition of schizophrenia, it is sufficient to rely on the register diagnoses of schizophrenic psychosis. There is no major vulnerability gene or locus that is common to the majority of patients with schizophrenia, indicating genetic heterogeneity.

Place, publisher, year, edition, pages
Umeå: Klinisk vetenskap, 2005. 70 p.
Umeå University medical dissertations, ISSN 0346-6612 ; 993
Psychiatry, Schizophrenia, Diagnostic evaluation, Molecular genetic studies, Linkage, Association, Psykiatri
National Category
Research subject
urn:nbn:se:umu:diva-637 (URN)91-7305-970-6 (ISBN)
Public defence
2005-12-09, D, Tandläkarhögskolan, Norrlands universitetssjukhus, Umeå, 09:00 (English)
Available from: 2005-11-17 Created: 2005-11-17 Last updated: 2010-05-06Bibliographically approved

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