PuSH - Publication Server of Helmholtz Zentrum München

de Luca, A.* ; Conti, E.* ; Grifone, N.* ; Amati, F.* ; Spalletta, G.* ; Caltagirone, C.* ; Bonaviri, G.* ; Pasini, A.* ; Gennareli, M.* ; Stafano, B.* ; Berti, L. ; Mittler, G. ; Meisterernst, M. ; Dallapiccola, B.* ; Novelli, G.*

Association Study Between CAG Trinucleotide Repeats in the PCQAP Gene (PC2 Glutamine/Q- Rich-Associated Protein) and Schizophrenia.

Am. J. Med. Genet. B 116, 32-35 (2003)
DOI
Open Access Green as soon as Postprint is submitted to ZB.
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.
Altmetric
Additional Metrics?
Edit extra informations Login
Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords velo-cardio-facial syndrome DiGeorge syndrome deletion 22q11 polyglutamine transcription factors psychosis case-control PC2 coactivator polymorphism PCQAP
ISSN (print) / ISBN 1552-4841
e-ISSN 0148-7299
Quellenangaben Volume: 116, Issue: 1, Pages: 32-35 Article Number: , Supplement: ,
Publisher Wiley
Publishing Place Hoboken, NJ
Non-patent literature Publications
Reviewing status Peer reviewed