The Study of 5,10-Methylenetetrahydrofolate Reductase Polymorphism and Its Effect on Pregnancy Outcomes among the Korean Population.
- Author:
Ari KIM
1
;
Eun Ji KANG
;
Kyung A LEE
;
Se Na PARK
;
Jong Soon PARK
;
Bo Hyun PARK
;
Hyesook PARK
;
Mi Hye PARK
;
Sun Hee CHUN
;
Jung Ja AHN
;
Myung Geol PANG
;
Young Ju KIM
Author Information
1. Department of Obstetrics and Gynecology, College of Medicine Ewha Womans University, Korea. kkyj@ewha.ac.kr
- Publication Type:Original Article
- Keywords:
MTHFR polymorphism;
Homocysteine;
Folate;
Pregnancy outcomes
- MeSH:
Birth Weight;
Chromatography, Liquid;
DNA;
Female;
Folic Acid;
Genotype;
Gestational Age;
Homocysteine;
Humans;
Infant;
Infant, Newborn;
Mothers;
Oxidoreductases*;
Pregnancy;
Pregnancy Outcome*;
Pregnancy*;
Pregnant Women
- From:Korean Journal of Perinatology
2006;17(3):294-303
- CountryRepublic of Korea
- Language:Korean
-
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.