C677T polymorphism in methylenetetrahydrofolate reductase gene and psychoses

Mol Psychiatry. 1998 Sep;3(5):435-7. doi: 10.1038/sj.mp.4000390.

Abstract

A common missense mutation of the methylenetetrahydrofolate reductase (MTHFR) gene (C677T) has been shown to be a risk factor for premature cardiovascular disease and neural tube defect. Deficient activity of MTHFR has also been implicated in the pathogenesis of psychiatric conditions such as schizophrenia and affective disorders. Arinami et al found an increased frequency of homozygosity for the mutated type (T677) of the MTHFR gene in schizophrenia and depression. We tried to replicate this finding in a sample of 343 patients with schizophrenia, 143 with bipolar disorder, 71 with unipolar depression, and 258 controls; however, there was no significantly increased frequency of homozygosity for the T677 allele in any of the diagnostic groups, compared to the controls. Our results suggest that homozygosity for the T677 allele of the MTHFR gene is unlikely to play a major role in the pathogenesis of schizophrenia or affective disorders in our sample.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age Factors
  • Aged
  • Alleles
  • Bipolar Disorder / enzymology
  • Bipolar Disorder / genetics
  • Cytosine
  • Depressive Disorder / enzymology
  • Depressive Disorder / genetics
  • Gene Frequency
  • Genotype
  • Homozygote
  • Humans
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Middle Aged
  • Mutation, Missense*
  • Oxidoreductases Acting on CH-NH Group Donors / genetics*
  • Point Mutation
  • Polymorphism, Genetic*
  • Psychotic Disorders / enzymology*
  • Psychotic Disorders / genetics*
  • Schizophrenia / enzymology
  • Schizophrenia / genetics
  • Thymine

Substances

  • Cytosine
  • Oxidoreductases Acting on CH-NH Group Donors
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Thymine