Korean J Obstet Gynecol.  2003 Aug;46(8):1525-1530.

The Interaction of Methylenetetrahydrofolate Reductase Polymorphism with Homocysteine in Pregnant Women

  • 1Department of Obstetrics and Gynecology, College of Medicine, Ewha Womans' University, Korea.
  • 2Ewha Medical Research Center, College of Medicine, Ewha Womans' University, Korea.
  • 3Department of Food and Nutritional Science, Ewha Womans' University, Korea.


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.
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.
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.
Serum homocysteine varied significantly by the MTHFR genotype and the serum B vitamin status.


Homocysteine; Vitamin B12; Folic acid; MTHFR mutation
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