Korean J Perinatol.
2006 Sep;17(3):294-303.
The Study of 5,10-Methylenetetrahydrofolate Reductase Polymorphism and Its Effect on Pregnancy Outcomes among the Korean Population
- Affiliations
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- 1Department of Obstetrics and Gynecology, College of Medicine Ewha Womans University, Korea. kkyj@ewha.ac.kr
- 2Department of Preventive Medicine, College of Medicine Ewha Womans University, Korea.
- 3Department of Ewha Medical Research Institute, College of Medicine Ewha Womans University MokDong Hospital, Seoul, Korea.
- 4Department of Animal Science and Technology, College of Industrial Sciences, Chung-Ang University, Gyungki-Do, Korea.
Abstract
OBJECTIVE
The purpose of this study was to analyze MTHFR polymorphism among the Korean population and to evaluate the relationship between serum levels of homocysteine and MTHFR polymorphism and also to investigate the effect on pregnancy outcomes.
METHODS
DNA was extracted from whole blood of 600 pregnant women. All samples were genotyped for the C677T and A1298C polymorphisms in MTHFR gene by PCR-RELP assay. Serum levels of homocysteine and folate were measured by high performance liquid chromatography for homocysteine and radioassay for folate. Pregnancy outcomes were estimated by gestational weeks and birth weights of newborns.
RESULTS
Serum homocysteine was higher in women with the T/T genotype than those with the C/T or C/C genotype of the MTHFR C677T polymorphism (p<0.05). And also serum homocysteine was higher in women with the A/A genotype than those with the A/C or C/C genotype of the MTHFR A1298C polymorphism (p<0.05). Serum homocysteine was negatively correlated with serum folate in all MTHFR genotypes, especially prominent in T/T genotype of MTHFR C677T polymorphism and A/A genotype of MTHFR A1298C polymorphism. Gestational age and the birth weight of infant from hyperhomocysteinemic mothers whose homocysteine levels higher than 15 micromol/L were 36.1 weeks, 3053.8g, respectively, which were significant lower than those from normohomocysteinemic mothers (38.3 weeks, 3,215.3g) (p<0.05).
CONCLUSION
Serum homocysteine was influenced significantly by MTHFR C677T polymorphism and MTHFR A1298C polymorphism. MTHFR C677T and A1298C polymorphism and serum homocysteine levels affect pregnancy outcomes, although not mainly by serum folate level.
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