An association study of PCOAP polymorphisms and schizophrenia

7Introduction 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. (C) 2004 Lippincott Williams Wilkins.