Association study of dopamine D3 receptor gene and schizophrenia

J. L. Kennedy*, E. A. Billett, F. M. Macciardi, M. Verga, T. J. Parsons, H. Y. Meltzer, J. Lieberman, J. A. Buchanan

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

56 Scopus citations


Several groups have reported an association between schizophrenia and the MscI polymorphism in the first exon of the dopamine D3 receptor gene (DRD3). We studied this polymorphism using a North American sample (117 patients plus 188 controls) and an Italian sample (97 patients plus 64 controls). In the first part of the study, we compared allele frequencies of schizophrenia patients and unmatched controls and observed a significant difference in the total sample (P = 0.01). The second part of the study involved a case control approach in which each schizophrenia patient was matched to a control of the same sex, and of similar age and ethnic background. The DRD3 allele frequencies of patients and controls revealed no significant difference between the two groups in the Italian (N = 53) or the North American (N = 54) matched populations; however, when these two matched samples were combined, a significant difference was observed (P = 0.026). Our results suggest that the MscI polymorphism may be associated with schizophrenia in the populations studied.

Original languageEnglish (US)
Pages (from-to)558-562
Number of pages5
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number6
StatePublished - 1995


  • DNA polymorphism molecular genetics
  • DRD3
  • schizophrenia

ASJC Scopus subject areas

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


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