Influence of 5,10-Methylenetetrahydrofolate Reductase (MTHFR) polymorphism toplasma homocysteine concentration in ESRD patients on maintenance hemodialysis / 대한내과학회지

ABSTRACT

OBJECTIVES: Hyperhomocysteinemia is frequently observed in patients with chronic renal failure and represents an independent cardiovascular risk factor in these patients. Elevated homocysteine plasma levels can result from defective remethylation of homocysteine to methionine due to decreased activity of the enzyme MTHFR. A genetic aberration in the MTHFR gene (677 C to T substitution) has been shown to result in reduced MTHFR activity. We examined whether elevation of homocysteine plasma level in hemodialysis patients is influenced by the 677 C to T mutation of the MTHFR gene. METHOD: We examined MTHFR gene mutation, homocysteine, vitamin B12, folate levels of those 106 patients on maintenance hemodialysis treatment at dialysis unit of Soonchunhyang University Chunan Hospital. RESULTS: Of 106 patients, 17 (16.0 %) were homozygous for the mutation (VV), 63 (58.4 %) were heterozygous for the mutation (AV) and remaining 26 (24.5 %) were normal. The mean homocyteine level in (VV) genotypic patients was 39.58+/-10.6 mol/L, (AV) genotypic patients was 26.24+/-3.77 mol/L and in no mutation was 26.07+/-4.52 mol/L. There was no significant difference of homocysteine levels between polymorphisms of MTHFR gene. CONCLUSION: Our data shows that the frequency of MTHFR genotype in maintenance hemodialysis patients is similar to that of previous studies. But, there is no significant relationship between the MTHFR gene mutation and homocysteine level.