Association between Val108/158 Met polymorphism of the COMT gene and schizophrenia

Am J Med Genet B Neuropsychiatr Genet. 2003 Jul 1;120B(1):47-50. doi: 10.1002/ajmg.b.20037.

Abstract

Schizophrenia is a complex disorder with a multifactorial polygenic inheritance with several genes conferring susceptibility at many genetic locations, each with a small effect. An attractive candidate gene for schizophrenia is the catechol-O-methyltransferase (COMT) gene, which is a modulator of dorsolateral prefrontal cortical function. A missense G to A mutation in this gene that results in a substitution of Methionine (Met) for Valine (Val) at codon 108/158 (Val(108/158) Met) has recently been identified in association to schizophrenia. We compared allele frequencies of the variant Val allele between 96 schizophrenia cases and 80 normal controls. We selected controls from a similar pool to cases in ethnicity and gender. The frequency of the Val allele was significantly higher in schizophrenia cases compared to controls (0.620 vs. 0.506; P = 0.043). Calculation of the population attributable risk suggests that the Val allele accounts for as much as 23% of schizophrenia in this population (range: 3-38%). These results provide support for a role of this variant in the etiopathophysiology of schizophrenia.

Publication types

  • Comparative Study
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Amino Acid Substitution
  • Catechol O-Methyltransferase / genetics*
  • Codon
  • Gene Frequency
  • Genetic Variation
  • Humans
  • Male
  • Methionine / genetics*
  • Middle Aged
  • Mutation, Missense
  • Polymorphism, Genetic*
  • Schizophrenia / etiology
  • Schizophrenia / genetics*
  • Valine / genetics*

Substances

  • Codon
  • Methionine
  • Catechol O-Methyltransferase
  • Valine