An association study of PCQAP polymorphisms and schizophrenia

Abstract

Introduction: PCQAP is a member of the mediator family of transcription co-activators that is found in the region of 22q11, which is consistently deleted in DiGeorges/ velocranialfacial (VCF) syndrome. As such, it is a gene of interest to behavioral geneticists because VCF is also associated with a high rate of psychosis and because defects in other mediator genes have been linked to psychosis and abnormal neurodevelopmental abnormalities. Recently, DeLuca and colleagues reported that polymorphisms in a trinucleotide repeat in exon 7 of PCQAP were associated with schizophrenia in a case-control study of Italian schizophrenics. Objective and methods: To confirm and extend the prior findings, we conducted a case-control association analysis using DNA from 233 schizophrenics and 371 random controls. Results: Unfortunately, we did not find any significant differences in the distribution of CAG repeat alleles between subjects and controls. Conclusions: These findings limit the role of exon 7 PCQAP polymorphisms in the pathogenesis of schizophrenia. © 2004 Lippincott Williams & Wilkins.