Association between a promoter polymorphism in the dopamine D2 receptor gene and schizophrenia

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 (chi(2)=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. (C) 1999 Elsevier Science B.V. All rights reserved.