Association study of schizophrenia with polymorphisms at six candidate genes

Schizophr Res. 2001 Apr 15;49(1-2):65-71. doi: 10.1016/s0920-9964(00)00106-7.


Clinical studies have shown that there is a genetic contribution to the pathogenesis of schizophrenia. The molecular mechanisms of effective antipsychotic drugs and recent advances in neural development suggest that several dopamine receptor, serotonin receptor and neurotrophic factor genes might be involved in the disorder. In this study, we assessed the associations between schizophrenia and polymorphisms in the D2 and D3 dopamine receptor (DRD2, DRD3), the serotonin 2A receptor (5HTR2A), the brain-derived neurotrophic factor (BDNF), the ciliary neurotrophic factor (CNTF) and the neurotrophin-3 (NT-3) genes. Our results suggest that the polymorphisms at the DRD3, 5HTR2A, CNTF and BDNF gene loci are unlikely to make our sample more genetically susceptible to schizophrenia. However, we found significant differences in microsatellite allele frequencies between schizophrenic and control groups for DRD2 in the whole sample and for DRD2 and NT-3 only in women. Therefore, clinical differences in the presentation of schizophrenia between gender might be related to genetic factors.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Brain-Derived Neurotrophic Factor / genetics
  • Female
  • Gene Frequency / genetics
  • Genetic Markers
  • Humans
  • Male
  • Polymorphism, Genetic / genetics*
  • Receptor, Serotonin, 5-HT2A
  • Receptors, Dopamine D2 / genetics
  • Receptors, Dopamine D3
  • Receptors, Serotonin / genetics
  • Schizophrenia / genetics*


  • Brain-Derived Neurotrophic Factor
  • DRD3 protein, human
  • Genetic Markers
  • Receptor, Serotonin, 5-HT2A
  • Receptors, Dopamine D2
  • Receptors, Dopamine D3
  • Receptors, Serotonin