Objective: Our aim was to evaluate the possible association between recurrent spontaneous abortions (RSA) and the c.1958 G>A SNP in the MTHFD1 gene encoding a trifunctional enzyme involved in DNA synthesis and folate metabolism.
Methods: By the means of PCR-RFLP we genotyped 131 women with a history of at least two consecutive spontaneous abortions and a matched number of controls.
Results: Our findings show an allele frequency of 44.3% of the A allele and 55.7% of the G allele in patients and 42.4% of the A allele and 57.6% of the G allele in controls.
Conclusions: No major difference between cases and controls was revealed, therefore, it is unlikely that this SNP plays a major role in RSA.