Korean J Fertil Steril.
2002 Sep;29(3):215-222.
Polymorphisms of 5,10-Methylenetetrahydrofolate Reductase (MTHFR C677T and A1298C) Gene in Recurrent Spontaneous Abortion
- Affiliations
-
- 1Institute for Clinical Research, College of Medicine, Pochon CHA University, Sungnam 463-712, Korea. nkkim@cha.ac.kr or namkkim@hanmail.net
- 2Department of Obstetrics and Gynecology, College of Medicine, Pochon CHA University, Sungnam 463-712, Korea.
- 3Department of Preventive Medicine, College of Medicine, Pochon CHA University, Sungnam 463-712, Korea.
- 4Infertility Medical Center, CHA General Hospital, Seoul 135-081, Korea.
Abstract
OBJECTIVE
Previous studies have suggested that hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR C677T) mutations are associated with increased risk of recurrent spontaneous abortion (RSA). Recently, a second site polymorphism in MTHFR, 1298A-->C, which changes a glutamic acid into an alanine residue, was shown to be associated with a decreased enzyme activity. We tested whether the variant alleles of MTHFR C677T and A1298C are risk factor (biomarker) for RSA.
MATERIALS AND METHODS
We analyzed DNA from a case-control study in the Korean DNA was extracted from blood samples of 118 patients with RSA and 123 healthy fertile patients as the controls. MTHFR variant alleles were determined by a PCR-restriction fragment length polymorphism assay.
RESULTS
We found no evidence for an association between 677TT genotype and risk of RSA (OR=1.95, 95% CI=0.84~4.50, p=0.12). However, the MTHFR 1298AC (OR=0.36, 95% CI=0.20~ 0.63, p=0.0004) and 1298AC+CC (OR=0.35, 95% CI=0.20~0.61, p=0.0002) genotypes were lower among 118 RSA cases compared with 123 controls, conferring a 2.8-fold decrease in risk of RSA, respectively. Moreover, the combined genotypes of MTHFR 677CC/1298AC (OR=0.30, 95% CI= 0.10~0.88, p=0.029) and 677CT/1298AC (OR=0.77, 95% CI=0.60~0.99, p=0.043) also showed significantly lower risk than those with MTHFR 677CC/1298AA type.
CONCLUSION
MTHFR 1298AC, MTHFR 677CC/1298AC and 677CT/1298AC genotypes may represent genetic markers for the protection of RSA at least in Korean women.
Keyword
MeSH Terms
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Abortion, Spontaneous*
Alanine
Alleles
Case-Control Studies
DNA
Female
Genetic Markers
Genotype
Glutamic Acid
Humans
Hyperhomocysteinemia
Methylenetetrahydrofolate Reductase (NADPH2)
Oxidoreductases*
Pregnancy
Risk Factors
Vascular Diseases
Alanine
DNA
Genetic Markers
Glutamic Acid
Methylenetetrahydrofolate Reductase (NADPH2)
Oxidoreductases
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