title: Insertion/deletion variant (-141C Ins/Del) in the 5' regulatory region of the dopamine D2 receptor gene: lack of association with schizophrenia and bipolar affective disorder. Short communication.
abstract: A possible dysregulation of dopaminergic neurotransmission has been implicated in the aetiology of schizophrenic psychoses, in particular of paranoid-hallucinatory states, and of the manic episodes of bipolar affective disorder. In the present study we analysed allelic and genotypic variations of a recently described functional deletion/insertion variant (-141C Ins/Del) in the 5' flanking region of the human dopamine D2 receptor gene. We investigated a total of 620 unrelated individuals, comprising 260 schizophrenic patients, 70 patients with bipolar affective disorder, and 290 population controls. Analysis of the -141C Ins/Del variant revealed that the schizophrenic, bipolar affective and control groups did not differ significantly regarding genotype frequencies and allele frequencies. No evidence of an allelic association with either a family history of schizophrenic psychosis or a diagnosis of schizophrenia of the paranoid type (according to ICD 10) was found. Our findings indicate that the -141C Del variant in the 5' flanking region of the human dopamine D2 receptor gene is unlikely to play a substantial role in genetic predisposition to major psychiatric disorders in Caucasians.
authors.affiliation: Department of Psychiatry, University of Würzburg, Federal Republic of Germany.
authors.forename: G
authors.initials: G
authors.lastname: Stöber
authors.forename: S
authors.initials: S
authors.lastname: Jatzke
authors.forename: A
authors.initials: A
authors.lastname: Heils
authors.forename: G
authors.initials: G
authors.lastname: Jungkunz
authors.forename: M
authors.initials: M
authors.lastname: Knapp
authors.forename: R
authors.initials: R
authors.lastname: Mössner
authors.forename: P
authors.initials: P
authors.lastname: Riederer
authors.forename: K P
authors.initials: KP
authors.lastname: Lesch
mesh_terms: D000328:Adult; D000483:Alleles; D001714:Bipolar Disorder / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D017448:Receptors, Dopamine D2 / Q000235:genetics*; D012559:Schizophrenia / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D017448:Receptors, Dopamine D2