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Association analysis between two functional dopamine D2 receptor gene polymorphisms and schizophrenia.

H Hori1, O Ohmori, T Shinkai

  • 1Department of Psychiatry, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Japan. h-hori@med.uoeh-u.ac.jp

American Journal of Medical Genetics
|April 17, 2001
PubMed
Summary

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This study investigated the dopamine D2 receptor (DRD2) gene

Area of Science:

  • Neurogenetics
  • Psychiatric Genetics
  • Molecular Psychiatry

Background:

  • The dopamine D2 receptor (DRD2) gene is a candidate gene for schizophrenia.
  • Previous studies reported associations between DRD2 polymorphisms (Ser311Cys, -141C Ins/Del) and schizophrenia in Japanese populations.

Purpose of the Study:

  • To replicate the findings of Arinami et al. regarding the association between DRD2 gene polymorphisms and schizophrenia.
  • To investigate the Ser311Cys and -141C Ins/Del polymorphisms in a Japanese cohort.

Main Methods:

  • Genotyping of DRD2 Ser311Cys and -141C Ins/Del polymorphisms.
  • Case-control study with 241 schizophrenia patients and 201 healthy controls.
  • Haplotype analysis of the two polymorphisms.

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Main Results:

  • No significant association was found between either the Ser311Cys or the -141C Ins/Del polymorphism and schizophrenia.
  • Haplotype analysis did not reveal any evidence for an association between combined polymorphisms and schizophrenia.
  • Replication of previous findings was not supported in this Japanese sample.

Conclusions:

  • The findings suggest that the DRD2 Ser311Cys and -141C Ins/Del polymorphisms are unlikely to be associated with schizophrenia in the Japanese population.
  • This study does not support a role for these specific DRD2 variants in schizophrenia susceptibility.
  • Further research may be needed to explore other genetic factors in schizophrenia.