PuSH - Publication Server of Helmholtz Zentrum München: Association Study Between CAG Trinucleotide Repeats in the PCQAP Gene (PC2 Glutamine/Q- Rich-Associated Protein) and Schizophrenia.

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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)

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Open Access Green as soon as Postprint is submitted to ZB.

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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.

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