MTHFR C677T polymorphism, folate, vitamin B12 and homocysteine in recurrent pregnancy losses: a case control study among North Indian women

J Perinat Med. 2013 Sep 1;41(5):549-54. doi: 10.1515/jpm-2012-0252.

Abstract

Aim: The present study attempts to understand the role of methylenetetrahydrofolate reductase C677T (MTHFR C677T) in recurrent pregnancy losses in North Indian women because of hyperhomocysteinemia in light of serum folate and vitamin B₁₂.

Methods: One hundred and seven women with three or more consecutive unexplained recurrent pregnancy losses and 343 women with two or more successful and uncomplicated pregnancies were recruited. Plasma homocysteine, serum folate and vitamin B₁₂ were analyzed using chemiluminescence. MTHFR C677T detection was completed in all subjects.

Results: MTHFR genotypic distribution among cases and controls showed no significant difference (P=0.409). However, MTHFR C677T polymorphism was found to be significantly associated with increased homocysteine in the case group (P=0.031). Hyperhomocysteinemia and vitamin B₁₂ deficiency were found to be significant risk factors for recurrent pregnancy loss (RPL) (OR=7.02 and 16.39, respectively). Folate deficiency was more common in controls (63.47%) as compared to the case group (2.56%).

Conclusion: Low vitamin B₁₂ increases homocysteine, specifically among T allele carrying case mothers, suggesting T allele is detrimental with B₁₂ deficiency. The study emphasizes the importance of vitamin B₁₂ in the prevention of RPL in North Indian women.

MeSH terms

  • Abortion, Habitual / blood*
  • Abortion, Habitual / etiology
  • Abortion, Habitual / genetics*
  • Adolescent
  • Adult
  • Amino Acid Substitution
  • Case-Control Studies
  • Female
  • Folic Acid / blood*
  • Gene Frequency
  • Homocysteine / blood*
  • Homocystinuria / blood
  • Homocystinuria / complications
  • Homocystinuria / genetics
  • Humans
  • Hyperhomocysteinemia / blood
  • Hyperhomocysteinemia / complications
  • India
  • Methylenetetrahydrofolate Reductase (NADPH2) / blood
  • Methylenetetrahydrofolate Reductase (NADPH2) / deficiency
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Polymorphism, Single Nucleotide
  • Pregnancy
  • Vitamin B 12 / blood*
  • Vitamin B 12 Deficiency / blood
  • Vitamin B 12 Deficiency / complications
  • Young Adult

Substances

  • Homocysteine
  • Folic Acid
  • MTHFR protein, human
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Vitamin B 12

Supplementary concepts

  • Mthfr Deficiency, Thermolabile Type