5, 10-Methylenetetrahydrofolate reductase (MTHFR) 677 C --> T genetic polymorphism in 228 Croatian volunteers

Coll Antropol. 2004 Dec;28(2):647-54.


5, 10-Methylenetetrahydrofolate Reductase (MTHFR) is one of the key enzymes in the metabolism of homocysteine, where it catalyses its remethylation. The autosomal recessive bp 677 C --> T mutation in the MTHFR gene leads to the substitution of valine for alanine. Individuals who are homozygous for this C677T mutation exhibit a decreased specific activity and increased thermolability of this enzyme. This leads to increased plasma levels of homocysteine, which is a known risk factor for atherosclerosis and various manifestations of the atherosclerotic disease. The aim of this study was to find out the distribution and frequency of this mutation in the general Croatian population. A group of 228 volunteers (175 males and 53 females) has been analyzed for the MTHFR polymorphism, which revealed the following distribution: 105 (46.05%) individuals were without mutation (C/C), 102 (44.74%) were heterozygous (C/T) and 21 (9.21%) homozygous (T/T). These findings are within the results of studies on other European populations.

MeSH terms

  • 5,10-Methylenetetrahydrofolate Reductase (FADH2) / genetics*
  • Adult
  • Arteriosclerosis / genetics*
  • Arteriosclerosis / physiopathology*
  • Croatia
  • DNA Mutational Analysis
  • Ethnicity
  • Female
  • Genotype
  • Homocysteine / metabolism*
  • Humans
  • Male
  • Polymorphism, Genetic*
  • Risk Factors


  • Homocysteine
  • 5,10-Methylenetetrahydrofolate Reductase (FADH2)