Association study between the dopamine D4 receptor gene and schizophrenia

A. Petronis, F. Macciardi, A. Athanassiades, A. D. Paterson, M. Verga, H. Y. Meltzer, P. Cola, J. A. Buchanan, H. H M Van Tol, J. L. Kennedy*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

55 Scopus citations


The dopamine D4 receptor is of major interest in schizophrenia research due to its high affinity for the atypical neuroleptic clozapine and a high degree of variability in the receptor gene (DRD4). Although several genetic linkage analyses performed on schizophrenia multiplex families from different regions of the world have either excluded or failed to prove that DRD4 is a major genetic factor for the development of schizophrenia, analyses for moderate predisposing effects are still of significant interest. We performed a study examining differences in allele frequencies of 4 different DRD4 polymorphisms in schizophrenia patients and age, sex, and ethnic origin matched controls. None of these 4 polymorphisms showed evidence for genetic association with schizophrenia, although a trend towards excess of the allele with 7 repeats in the (48)(n) bp exon III polymorphism was observed. Complexities in the DRD4 genetic investigation and further analytic approaches are discussed.

Original languageEnglish (US)
Pages (from-to)452-455
Number of pages4
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number5
StatePublished - 1995


  • DNA polymorphism
  • association study
  • dopamine D4 receptor gene
  • neuroleptic clozapine

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience


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