An association study between schizophrenia and the dopamine receptor genes DRD3 and DRD4 using haplotype relative risk

Fabio Macciardi, Massimiliano Verga, James L. Kennedy, Arturas Petronis, Giuseppe Bersani, Paolo Pancheri, Enrico Smeraldi

Research output: Contribution to journalArticlepeer-review

Abstract

Our work investigates the relationship between genetic factors and schizophrenia, seeking to identify a gene or genes associated with the clinical form of the disease in a group of Italian patients. In pursuit of the ‘dopaminergic hypothesis’ of schizophrenia, we explored a possible etiologic role of two dopamine receptor genes, DRD3 and DRD4, that have been repeatedly suggested as factors in the pathophysiology of the disease. We typed DNA polymorphisms in each of the genes that code for variation in the amino acid sequence of the receptor protein. An innovative design using parental chromosomes as controls - the ‘haplotype relative risk’ strategy – represents a significant improvement over previous association studies in psychiatric genetics. Our results suggest that, at least in our well-defined population, the candidate genes DRD3 and DRD4 do not appear to play a major role in the genetic etiology of schizophrenia.

Original languageEnglish
Pages (from-to)328-336
Number of pages9
JournalHuman Heredity
Volume44
Issue number6
DOIs
Publication statusPublished - 1994

Keywords

  • Association
  • DRD3
  • DRD4
  • Genetics
  • Haplotype relative risk
  • Schizophrenia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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