Effects of the common 677C>T mutation of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene on ovarian responsiveness to recombinant follicle-stimulating hormone

Am J Reprod Immunol. 2006 Apr;55(4):251-8. doi: 10.1111/j.1600-0897.2005.00357.x.

Abstract

Problem: The common 677C>T mutation of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene is less prevalent in mothers of spontaneously conceived dichorionic twins than in those with singleton pregnancies. (Hasbargen U, Lohse P, Thaler CJ: Hum Reprod 2000; 15:2659-2662). As polyovulation is a pre-requisite for dichorionic pregnancies, we investigated whether the T allele is associated with reduced ovarian responsiveness to follicle-stimulating hormone (FSH).

Materials and methods: We studied 105 infertility patients undergoing a total of 269 A.R.T cycles stimulated with recombinant (r)-FSH. The MTHFR 677C>T genotype was analyzed by digestion of polymerase chain reaction-amplified DNA fragments.

Results: Homozygous 677C patients older than 35, required significantly (P <0.02) less r-FSH and produced significantly more oocytes (P < 0.04) and higher maximal serum estradiol concentrations (P < 0.002) than heterozygous or homozygous carriers of the 677T allele.

Conclusion: Our results suggest that, in patients of advanced reproductive age, the MTHFR 677C>T mutation affects ovarian responsiveness.

MeSH terms

  • Adult
  • Cytosine*
  • Female
  • Follicle Stimulating Hormone / physiology
  • Follicle Stimulating Hormone / therapeutic use*
  • Humans
  • Infertility, Female / drug therapy
  • Infertility, Female / genetics
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Mutation*
  • Ovary / enzymology*
  • Ovary / metabolism
  • Polymorphism, Single Nucleotide*
  • Prospective Studies
  • Recombinant Proteins / pharmacology
  • Recombinant Proteins / therapeutic use*
  • Thymine*

Substances

  • Recombinant Proteins
  • Cytosine
  • Follicle Stimulating Hormone
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Thymine