title: Association study between CAG trinucleotide repeats in the PCQAP gene (PC2 glutamine/Q-rich-associated protein) and schizophrenia.
abstract: 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.
authors.affiliation: IRCCS-CSS San Giovanni Rotondo, Rome, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: De Luca
authors.forename: Emanuela
authors.initials: E
authors.lastname: Conti
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Grifone
authors.forename: Francesca
authors.initials: F
authors.lastname: Amati
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Spalletta
authors.forename: Carlo
authors.initials: C
authors.lastname: Caltagirone
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Bonaviri
authors.forename: Augusto
authors.initials: A
authors.lastname: Pasini
authors.forename: Massimo
authors.initials: M
authors.lastname: Gennarelli
authors.forename: Bignotti
authors.initials: B
authors.lastname: Stefano
authors.forename: Lucia
authors.initials: L
authors.lastname: Berti
authors.forename: Gerhard
authors.initials: G
authors.lastname: Mittler
authors.forename: Michael
authors.initials: M
authors.lastname: Meisterernst
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Novelli
mesh_terms: D000328:Adult; D000483:Alleles; D002352:Carrier Proteins / Q000235:genetics*; D016022:Case-Control Studies; D004247:DNA / Q000235:genetics; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D056892:Mediator Complex; D008875:Middle Aged; D012559:Schizophrenia / Q000235:genetics*; D014157:Transcription Factors; D018911:Trinucleotide Repeats / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; C416944:MED15 protein, human; D056892:Mediator Complex; D014157:Transcription Factors; D004247:DNA