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

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics - Tập 116B Số 1 - Trang 32-35 - 2003
Alessandro De Luca1, Emanuela Conti1, Nicoletta Grifone1, Francesca Amati2, Gianfranco Spalletta3,4, Carlo Caltagirone3,4, Giuseppina Bonaviri5, Augusto Pasini3, Massimo Gennarelli6, Stefano Bignotti6, Lucia Berti7, Gerhard Mittler7, Michael Meisterernst7, Bruno Dallapiccola8,1, Giuseppe Novelli2
1IRCCS-CSS San Giovanni Rotondo and CSS-Mendel, Rome, Italy
2Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Rome, Italy
3Department of Neuroscience, “Tor Vergata” University, Rome, Italy
4IRCCS Santa Lucia, Rome, Italy
5ASL Frosinone, Department of Mental Health, Frosinone, Italy
6Genetics Unit, IRCCS S Giovanni di Dio, Fatebenefratelli, Brescia, Italy
7Department of Gene Expression, Institute of Molecular Immunology-GSF, Munich, Germany
8Department of Experimental Medicine and Pathology, La Sapienza University, Rome, Italy

Tóm tắt

AbstractSchizophrenia 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. © 2003 Wiley‐Liss, Inc.

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Thông tin xuất bản

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Tập 116B Số 1

32-35

Thông tin tác giả