title: A dopamine D2 receptor gene-related polymorphism is associated with schizophrenia in a Spanish population isolate.
abstract: Numerous lines of evidence have highlighted the involvement of the dopamine system in the pathophysiology of schizophrenia. Association studies of dopaminergic genes such as the dopamine D2 receptor gene (DRD2), however, have produced contradictory results. To test the hypothesis that DRD2 polymorphisms are associated with schizophrenia, we investigated two DRD2-related polymorphisms (TaqI A1/A2 or rs1800497 and -141-C Ins/Del or rs1799732) in a Spanish population isolate from northern Spain consisting of 165 controls and 119 patients with schizophrenia. The TaqI A1 allele was less frequent in schizophrenic patients than in controls (P=0.002). A similar association was found for the TaqI A2/A2 genotype (P=0.0003). No association was found for the DRD2 -141-C Ins/Del polymorphism. The strong association between a potentially functional polymorphism, downstream of the DRD2 gene and schizophrenia, suggests that the direct or indirect functional effects of this polymorphism, acting on either the ANKK1 or DRD2 genes, may play a role in the pathophysiology of schizophrenia.
authors.affiliation: Clinical Neuropharmacology, Institute of Psychiatry, KCL, London, UK. m.parsons@iop.kcl.ac.uk
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Parsons
authors.forename: Ignacio
authors.initials: I
authors.lastname: Mata
authors.forename: Maria
authors.initials: M
authors.lastname: Beperet
authors.forename: Fernando
authors.initials: F
authors.lastname: Iribarren-Iriso
authors.forename: Barbara
authors.initials: B
authors.lastname: Arroyo
authors.forename: Ricardo
authors.initials: R
authors.lastname: Sainz
authors.forename: Maria J
authors.initials: MJ
authors.lastname: Arranz
authors.forename: Robert
authors.initials: R
authors.lastname: Kerwin
mesh_terms: D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D006801:Humans; D011110:Polymorphism, Genetic; D017448:Receptors, Dopamine D2 / Q000235:genetics*; D012424:Rural Population; D012559:Schizophrenia / Q000235:genetics*; D017384:Sequence Deletion; D013030:Spain; D044465:White People / Q000235:genetics
chemical_list: D017448:Receptors, Dopamine D2; D004247:DNA