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Schizophrenia Bulletin 1999 25(3):609-618;
© 1999 by Oxford University Press and the Maryland Psychiatric Research Center (MPRC)
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© Oxford University Press

Genetic Variants of Dopamine Receptor D4 and Psychopathology

Alessandro Serretti, M.D., Fabio Macciardi, M.D., Ph.D., Marco Catalano, M.D., Laura Bellodi, M.D. and Enrico Smeraldi, M.D.
Researcher, Department of Psychiatry, Istituto Scientifico H. San Raffaele, University of Milano School of Medicine Milano, Italy
Lecturer of Psychiatry and Vice Psychiatrist-in-Chief, Department of Psychiatry, Istituto Scientifico H. San Raffaele, University of Milano School of Medicine Milano, Italy
Lecturer of Psychiatry and Vice Psychiatrist-in-Chief, Department of Psychiatry, Istituto Scientifico H. San Raffaele, University of Milano School of Medicine Milano, Italy
Associate Professor of Psychiatry and Psychiatrist-in-Chief, Department of Psychiatry, Istituto Scientifico H. San Raffaele, University of Milano School of Medicine Milano, Italy
Professor of Psychiatry and Head of the Department of Psychiatry, Istituto Scientifico H. San Raffaele, University of Milano School of Medicine Milano, Italy

Reprint requests should be sent to Dr. Enrico Smeraldi, Department of Neuroscience, Istituto Scientifico H. San Raffaele, University of Milano School of Medicine, Via Luigi Prinetti 29, 20127 Milano, Italy

There is much evidence to indicate that the dopamine receptor D4 (DRD4) gene is involved in psychiatric disorders. We investigated the correlation between DRD4 gene polymorphism and the psychopathology of major psychoses, independently of diagnoses. Some 461 inpatients affected by major psychoses were assessed by the Operational Criteria checklist for psychotic illness and typed for DRD4 variants. The four symptomatologic factors—mania, depression, delusion, and disorganization—were used as phenotype definitions. DRD4 Exon 3 long allele variants were associated with high delusional scores, with the most significant difference between alleles 2 and 7 (p=0.004). DRD4 variants may, therefore, constitute a liability factor for development of delusional symptomatology in patients with major psychoses.

Keywords: Psychopathology / DRD4 / psychiatric genetics / mood disorders / schizophrenia


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