No evidence of association or linkage disequilibrium between polymorphisms in the 5' upstream and coding regions of the dopamine D4 receptor gene and schizophrenia in a Portuguese population.

Abstract

Alterations in dopaminergic system have been implicated in the pathophysiology of this disease for many years, and this study was performed to assess the possible involvement of the dopamine D4 receptor (DRD4) gene polymorphisms either in the 5' upstream or in the coding regions, in the etiology of schizophrenia. The approach included an association study with 90 Portuguese trios by doing the analysis of the individual alleles and the haplotypes. For the polymorphisms in the 5' upstream region (-C616G and -C521T) and in the coding region (48 bp repeat) of the DRD4 gene, negative results were obtained with both haplotype relative risk (HRR) and transmission disequilibrium test (TDT), as well as transmit. These data suggest that polymorphisms (-C616G, -C521T, and 48 bp repeat) at the DRD4 gene do not have a minor effect in the susceptibility to schizophrenia in our sample.

• Authors: Alda M Ambrósio, James L Kennedy, Fabio Macciardi, Cathy Barr, Maria J Soares, Catarina R Oliveira, Carlos N Pato
• Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics (Am J Med Genet B Neuropsychiatr Genet) Vol. 125B Issue 1 Pg. 20-4 (Feb 15 2004) ISSN: 1552-4841 [Print] United States
• PMID: 14755438 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
• Copyright: Copyright 2003 Wiley-Liss, Inc.

Chemical References

• DRD4 protein, human
• Receptors, Dopamine D2
• Receptors, Dopamine D4

Topics

• Alleles
• Female
• Haplotypes (genetics)
• Humans
• Linkage Disequilibrium (genetics)
• Male
• Polymorphism, Genetic (genetics)
• Portugal
• Receptors, Dopamine D2 (genetics)
• Receptors, Dopamine D4
• Schizophrenia (genetics)