Molecular genetic study of schizophrenia by using sib-pair analysis and microsatellite markers

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The hyperactivity of dopaminergic systems is one of the major etiological hypotheses of schizophrenia. The major support of this hypothesis is that effective antipsychotic drugs bind to dopamine receptors and improve acute schizophrenic symptoms. For this reason we investigated the allelic association between schizophrenia and polymorpisms of dopamine D2 receptor (DRD2) and dopamine transporter (DAT) genes. The subjects were 190 biologically unrelated patients with schizophrenia and 103 healthy controls. The DRD2 gene is located on the long arm of chromosome 11 (11q22-23) and revealed Ser/Cys 311, -141C Ins/Del and Taq1A polymorphisms. The DAT gene is located on the short arm of chromosome 5 and has polymorphisms by varied number of repeat sequence of 40 base pairs. The polymorphisms of DRD2 and DAT were detected by RFLP or PCR-PFLP.There were no significant differences between the patients and controls in the gene frequencies and the frequencies of the genotypes. We found no association between schizophrenia and DRD2 and DAT.However the polymorphisms of DRD2 (Ser/Cys 311, -141C Ins/Del) showed significant influences on the symptoms of schizophrenia. A multi-site collaborative study, which we joined it, showed some possible results of linkage by using genome scanning.