Abstract

In this study, a PstI polymorphic site with two individual alleles, namely A1 and A2, was identified withinthe boundary between intron 1 and exon 2 of the cholecystokinin (CCK) type A receptor gene. The PstI polymorphic site was used as a genetic marker to study its association with psychotic symptoms in schizophrenia. A significant difference in allelic frequency was found between schizophrenic patients with and without auditory hallucinations(χ 2 = 6.26, df = 1, P = 0.012), and the odds ratio for the allelic association was 2.21 (95% CI 1.18–4.15) with an attributable fraction of 0.1. The frequency of A1-A1 and A1-A2 genotypes showed a significant excess in schizophrenic patients with auditory hallucinations as compared to those without such symptoms (χ 2 = 5.45, df = 1, P = 0.02), and the odds ratio for the genotypic association was 2.27 (95% CI 1.13–4.57) with an attributable fraction of 0.177. The haplotype-based haplotype relative risk (HHRR) test revealed a significant difference between transmitted and non-transmitted alleles in nuclear families of schizophrenic patients with auditory hallucinations (χ 2 = 4.54, df = 1, P = 0.033) but not in those of schizophrenic patients without them. The present study suggests that the CCK-A receptor gene may be associated with auditory hallucinations in schizophrenia.

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