Prevalence of the mutation C677 --> T in the methylene tetrahydrofolate reductase gene among distinct ethnic groups in Brazil

Am J Med Genet. 1998 Jul 24;78(4):332-5. doi: 10.1002/(sici)1096-8628(19980724)78:4<332::aid-ajmg5>;2-n.


Vascular disease is a serious public health problem in the industrialized world, and is a frequent cause of death among the adult population of Brazil. Mild hyperhomocysteinemia has been identified as a risk factor for arterial disease, venous thrombosis, and neural tube defects. Individuals homozygous for the thermolabile variant of methylenetetrahydrofolate reductase (MTHFR-T) are found in 5-15% of the general population and have significantly elevated plasma homocysteine levels which represent one of the genetic risk factors for vascular diseases. We have analyzed the prevalence of individuals homozygous for the MTHFR-T in 327 subjects representing the three distinct ethnic groups in Brazil. The prevalence of homozygotes for the mutated allele MTHFR-T was high among persons of Caucasian descent (10%) and considerably lower among Black (1.45%) and Indians persons populations (1.2%). These data suggest that screening for the MTHFR-T allele should help in identifying individuals with a high risk of vascular disease among populations with a heterogeneous background.

MeSH terms

  • Adolescent
  • Adult
  • African Continental Ancestry Group / genetics*
  • Aged
  • Alleles
  • Brazil
  • Child
  • Cytosine
  • Deoxyribonucleases, Type II Site-Specific
  • European Continental Ancestry Group / genetics*
  • Female
  • Genetic Testing
  • Homozygote
  • Humans
  • Indians, South American / genetics*
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Middle Aged
  • Oxidoreductases Acting on CH-NH Group Donors / genetics*
  • Point Mutation*
  • Polymerase Chain Reaction
  • Thymine


  • Cytosine
  • Oxidoreductases Acting on CH-NH Group Donors
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Deoxyribonucleases, Type II Site-Specific
  • GANTC-specific type II deoxyribonucleases
  • Thymine