The Interaction of Methylenetetrahydrofolate Reductase Polymorphism with Homocysteine in Pregnant Women / 대한산부인과학회잡지

ABSTRACT

OBJECTIVE: The purpose of this study was to investigate the relationship between serum levels of folic acid, vitamin B12 and homocysteine and C677T metylenetetrahydrofolate reductase (MTHFR) mutation in pregnant women. METHODS: DNA was extracted from whole blood of 177 pregnant women. All samples were genotyped for the C677T polymorphism in MTHFR gene by polymerase chain reaction (PCR-RELP). Serum levels of homocysteine, folate, and vitamin B12 were measured by high performance liquid chromatography for homocysteine, and radioassay for folate and vitamin B12. RESULTS: Serum homocysteine was higher in women with the T/T genotype than those with the C/T or the C/C genotype of the MTHFR gene (p<0.05). Serum homocysteine was negatively correlated with serum folate in all MTHFR genotypes (p<0.001). Serum homocysteine was increased in pregnant women with the T/T type of the MTHFR gene only when the serum folate fell below the median compared to those stayed above the median level (p<0.05). Serum folate was positively correlated with serum vitamin B12 in all subjects. CONCLUSION: Serum homocysteine varied significantly by the MTHFR genotype and the serum B vitamin status.