[Importance of the determination of MTHFR SNPs (Methylene Tetrahydrofolate Reductase Single Nucleotide Polymorphisms) in couple infertility]

Objective: MTHFR SNPs (Methylene Tetrahydrofolate reductase Single Nucleotide polymorphisms) are biochemical modifications decreasing the capacity to form 5 MTHF 5 methyltetrahydrofolate (5MTHF). Their presence reduces the capacity of the One Carbon cycle, and so the regeneration of Homocysteine (Hcy) and in fine strongly perturbs all the methylation processes. As methylation processes are major regulators in gametogenesis and embryogenesis. We have determined the prevalence of the 2 most important SNPs A1298C and C677T in our population of patients consulting for infertility.

Methods: Determination of the MTHFR SNPs A1298C and C677T, by hybridization using the LAMP Human MTHFR mutation KITs.

Results: Only 15.8% of our patients (861) do not carry any SNP (WT wid type). Close to 20% of the patients are homozygotes for one mutation or the other. A total of 19.7% are composite heterozygous. A total of 43% of our population is considered "at risk", based on observations collected for the repeat miscarriages.

Conclusions: Determination of the 2 major MTHFR SNPs is not a "first row" choice, but it must not be neglected and should be carried out in case of repeat ART failures and repeat miscarriages. Some simple therapeutic options can be proposed: they are based on the use of 5MTHF (5MethyleneTetraHydroFolate) the compound downstream the MTHFR.