title: Association between a promoter polymorphism in the dopamine D2 receptor gene and schizophrenia.
abstract: Genetic factors and dopamine receptor dysfunction have been implicated in the pathophysiology of schizophrenia. Recently, an association between a putative functional promoter polymorphism (-141C Ins/Del) in the dopamine D2 receptor gene and schizophrenia was reported. We investigated unrelated Swedish schizophrenic patients (n = 129) and control subjects (n = 179) for the same polymorphism. Similarly to a previous Japanese report, the - 141C Del allele frequency was significantly lower in patients than controls (chi2=4.4, 1 df, p<0.05; odds ratio 0.49, 95% confidence interval 0.26-0.91). The present and previous results may indicate that the -141C Ins/Del dopamine D2 receptor gene polymorphism affects susceptibility to schizophrenia.
authors.affiliation: Department of Clinical Neuroscience, Karolinska Institute, Stockholm, Sweden. erikj@psyk.ks.se
authors.forename: E G
authors.initials: EG
authors.lastname: Jönsson
authors.forename: M M
authors.initials: MM
authors.lastname: Nöthen
authors.forename: H
authors.initials: H
authors.lastname: Neidt
authors.forename: K
authors.initials: K
authors.lastname: Forslund
authors.forename: G
authors.initials: G
authors.lastname: Rylander
authors.forename: M
authors.initials: M
authors.lastname: Mattila-Evenden
authors.forename: M
authors.initials: M
authors.lastname: Asberg
authors.forename: P
authors.initials: P
authors.lastname: Propping
authors.forename: G C
authors.initials: GC
authors.lastname: Sedvall
mesh_terms: D000328:Adult; D000483:Alleles; D017931:DNA Primers / Q000235:genetics; D005260:Female; D015870:Gene Expression / Q000235:genetics*; D006801:Humans; D008297:Male; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D011569:Psychiatric Status Rating Scales; D017448:Receptors, Dopamine D2 / Q000235:genetics*; D012559:Schizophrenia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D017931:DNA Primers; D017448:Receptors, Dopamine D2