Identification of a BglI polymorphism of catechol-O-methyltransferase (COMT) gene, and association study with schizophrenia

Am J Med Genet. 1996 Nov 22;67(6):556-9. doi: 10.1002/(SICI)1096-8628(19961122)67:6<556::AID-AJMG8>3.0.CO;2-F.


Several linkage studies suggested chromosome 22q11-13 may harbor susceptible genes for schizophrenia. Catechol-O-methyl-transferase (COMT), which is involved in the metabolism of catecholamines, was mapped to 22q11 and is considered a possible candidate gene for schizophrenia. Recently, we identified a polymorphic marker, a single nucleotide C insertion at the 3' untranslated region of the COMT gene, which obliterates a BglI site. Using this BglI polymorphism, we conducted a case-control association study in Chinese patients with schizophrenia. No significant differences of allele and genotype frequencies were noted between patients (N = 177) and controls (N = 99). When patients were subgrouped according to sex, no significant differences of genotype and allele frequencies were noted in either male or female patients compared to normal controls. Our results do not support an association between the BglI polymorphism of COMT gene and schizophrenia.

MeSH terms

  • Catechol O-Methyltransferase / genetics*
  • Deoxyribonucleases, Type II Site-Specific / metabolism*
  • Female
  • Genotype
  • Humans
  • Male
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Schizophrenia / genetics*


  • Catechol O-Methyltransferase
  • Deoxyribonucleases, Type II Site-Specific
  • GCCNNNNNGGC-specific type II deoxyribonucleases