Association study between CAG trinucleotide repeats in the PCQAP gene (PC2 glutamine/Q-rich-associated protein) and schizophrenia

Alessandro De Luca, Emanuela Conti, Nicoletta Grifone, Francesca Amati, Gianfranco Spalletta, Carlo Caltagirone, Giuseppina Bonaviri, Augusto Pasini, Massimo Gennarelli, Bignotti Stefano, Lucia Berti, Gerhard Mittler, Michael Meisterernst, Bruno Dallapiccola, Giuseppe Novelli

Research output: Contribution to journalArticlepeer-review


Schizophrenia or schizoaffective disorders are quite common features in patients with DiGeorge/velocardiofacial syndrome (DGS/VCFS) as a result of hemizygosity of chromosome 22q11.2. We evaluated the PCQAP gene, which maps within the DGS/VCFS interval, as a potential candidate for schizophrenia susceptibility. PCQAP encodes for a subunit of the large multiprotein complex PC2, which exhibits a coactivator function in RNA polymerase II mediated transcription. Using a case-control study, we searched association between schizophrenia and the intragenic coding trinucleotide polymorphism. The distribution of the CAG repeat alleles was significantly different between patients and controls with the Mann-Whitney test (z = -2.5694, P = 0.0051; schizophrenics: n = 378, W = 161,002.5, Mean rank = 425.9325; controls: n = 444, W = 177,250.5, Mean rank = 399.2128). This result may indicate a possible involvement of the multiprotein complex PC2 in schizophrenia susceptibility.

Original languageEnglish
Pages (from-to)32-35
Number of pages4
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume116 B
Issue number1
Publication statusPublished - Jan 1 2003


  • Case-control
  • Coactivator
  • Deletion 22q11
  • DiGeorge syndrome
  • PC2
  • Polyglutamine
  • Polymorphism
  • Psychosis
  • Transcription factors
  • Velo-cardio-facial syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)


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