Homocysteine, folate, and methylenetetrahydrofolate reductase polymorphism in korean normal subjects / 대한내과학회지

ABSTRACT

BACKGROUND: Hyperhomocysteinemia is an independent risk factor for cardiovascualr disease. Recently, a mutation (677C-->T) was identified in the methylenetetrahydrofolate reductase gene leading to the substitution of valine(V) for alanine(A). This mutation causes a reduced folate-dependent enzyme activity which leads to increased homocysteine. In this study, we examined the association between the V allele of the methylenetetrahydrofolate reductase gen and serum total homocysteine and folate concentrations in Korean healthy subjects. METHODS: In 198 healthy subjects, the methylenetetrahydrofolate reductase genotypes were analyzed by polymerase chain reaction followed by HinfI digestion. Serum total homocysteine and folate concentrations were measured in age- and sex-matched 14 healthy subjects in each of three methylenetetrahydrofolate reductase genotypes. RESULTS: Homozygosity for 677C-->T mutation in the methylenetetrahydrofolate reductase gene was found in 31 (15.7%) of 198 healthy subjects. In healthy subjects, those bearing the VV genotype tend to have higher serum total homocysteine concentrations 1.5 micromol/L(18.6%) than AA genotype but this was not statistically significant. Correlation between serum total homocysteine concentrations and other clinical variables showed that serum folate and creatinine were significant. CONCLUSION: We conclude that although the frequency of VV genotype in Korean healthy subjects is higher than that of other reports, this mutation is not associated with increased serum total homocysteine concentrations in Korean healthy subjects.