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

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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.
Funding Information
  • Medical Research Council of Canada
  • National Institute of the Mental Health of USA
  • Junta Nacional de Investigação Científica e Tecnológica, Portugal