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Korean Journal of Fertility and Sterility 2002;29(3):215-222.
Published online September 1, 2002.
Polymorphisms of 5,10-Methylenetetrahydrofolate Reductase (MTHFR C677T and A1298C) Gene in Recurrent Spontaneous Abortion.
Nam Keun Kim, Yoon Sung Nam, Suman Lee, Sun Hee Kim, Seung Joo Shin, Sung Woon Chang, Se Hyun Kim, Kwang Yul Cha, Doyeun Oh
1Institute for Clinical Research, College of Medicine, Pochon CHA University, Sungnam 463-712, Korea.
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.
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.
Key Words: MTHFR; Polymorphism; Recurrent spontaneous abortion; Korean; Vascular disease; Thrombotic disease


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