Association of parental hyperhomocysteinemia and C677T Methylene tetrahydrofolate reductase (MTHFR) polymorphism with recurrent pregnancy loss

Clin Biochem. 2009 Mar;42(4-5):380-6. doi: 10.1016/j.clinbiochem.2008.12.003. Epub 2008 Dec 16.

Abstract

Objectives: To investigate the association of parental hyperhomocysteinemia, C677T Methylene tetrahydrofolate reductase (MTHFR) polymorphism and DNA damage with recurrent pregnancy loss (RPL).

Design and methods: A case-control study. Reverse phase HPLC, PCR-RFLP and Cytokinesis blocked micronuclei assay were used to assess total plasma homocysteine, C677T MTHFR polymorphism and DNA damage respectively. Student t-test, ANOVA and Fisher exact test were used for statistical analysis.

Results: Maternal [mean: 11.6+/-5.0 versus 8.6+/-4.2 micromol/L, odds ratio (OR): 4.48] and paternal [mean: 19.6+/-9.5 versus 14.2+/-7.4 micromol/L, OR: 6.92] hyperhomocysteinemia, paternal age [OR: 1.16], paternal MTHFR 677T allele [OR: 2.30] and DNA damage were found to increase the risk for RPL. DNA damage showed positive correlation with plasma homocysteine and MTHFR 677T allele.

Conclusions: Parental hyperhomocysteinemia, paternal age, paternal C677T MTHFR polymorphism and DNA damage are risk factors for RPL. DNA damage showed positive correlation with plasma homocysteine and MTHFR 677T allele.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Substitution / genetics
  • Case-Control Studies
  • DNA Damage
  • Embryo Loss / enzymology
  • Embryo Loss / genetics*
  • Female
  • Gene Frequency / genetics
  • Genetic Predisposition to Disease*
  • Homocysteine / blood
  • Humans
  • Hyperhomocysteinemia / enzymology*
  • Hyperhomocysteinemia / genetics*
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Micronuclei, Chromosome-Defective
  • Parents*
  • Polymorphism, Single Nucleotide / genetics*
  • Pregnancy
  • Recurrence
  • Young Adult

Substances

  • Homocysteine
  • Methylenetetrahydrofolate Reductase (NADPH2)