J Korean Med Sci.  2017 Dec;32(12):2029-2034. 10.3346/jkms.2017.32.12.2029.

Methylenetetrahydrofolate Reductase Polymorphisms and Risk of Recurrent Pregnancy Loss: a Case-Control Study

Affiliations
  • 1Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Seoul, Korea. ymchoi@snu.ac.kr
  • 2Department of Obstetrics and Gynecology, Seoul Metropolitan Government-Seoul National University Boramae Medical Center, Seoul, Korea.
  • 3The Institute of Reproductive Medicine and Population, Medical Research Centre, Seoul National University College of Medicine, Seoul, Korea.
  • 4Department of Obstetrics and Gynecology, Healthcare System Gangnam Center, Seoul National University Hospital, Seoul, Korea.
  • 5Department of Obstetrics and Gynecology, Konyang University College of Medicine, Daejeon, Korea.
  • 6Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Dankook University, College of Medicine, Seoul, Korea.
  • 7Department of Obstetrics and Gynecology, Bundang Cheil Women's Hospital, Sungnam, Korea.
  • 8Department of Obstetrics and Gynecology, Seoul Rachel Fertility Center, Seoul, Korea.
  • 9Department of Obstetrics and Gynecology, Graduate School of Medicine, Dongguk University, Seoul, Korea.

Abstract

The balance between coagulation and fibrinolysis is an essential part in early pregnancy. Mutations in methylenetetrahydrofolate reductase (MTHFR) gene lead to decreased activity of the enzyme and hyperhomocysteinemia, which then induces platelet aggregation by promoting endothelial oxidative damage, possibly resulting in adverse effect on maintenance of pregnancy. We investigated the role of MTHFR single nucleotide polymorphisms (SNPs), C677T and A1298C, in Korean patients with recurrent pregnancy loss (RPL). We conducted a prospective case-control study in the Korean population. Subjects included 302 women with 2 or more consecutive, unexplained, spontaneous miscarriages before 20 weeks of gestation and 315 control women without a history of recurrent miscarriages. The genotyping for C677T and A1298C polymorphisms was performed using the TaqMan assay. Continuous variables were compared using Student's t-test, and χ² test was used to evaluate differences in the genotype distributions between the RPL and the controls. The genotype distribution of both polymorphisms in the RPL group did not differ from those of the controls. For further analysis, if RPL patients were divided according to the numbers of pregnancy losses (≥ 2 and ≥ 3) neither group was significantly different compared with controls. MTHFR gene C677T and A1298C polymorphisms are not associated with idiopathic RPL in Korean women, suggesting that those may not be susceptible allelic variants or be deficient to cause RPL.

Keyword

MTHFR Gene; Recurrent Pregnancy Loss; Single-Nucleotide Polymorphisms; Korean

MeSH Terms

Abortion, Habitual
Abortion, Spontaneous
Case-Control Studies*
Female
Fibrinolysis
Genotype
Humans
Hyperhomocysteinemia
Methylenetetrahydrofolate Reductase (NADPH2)*
Platelet Aggregation
Polymorphism, Single Nucleotide
Pregnancy*
Prospective Studies
Methylenetetrahydrofolate Reductase (NADPH2)

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