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Abstract Background Polymorphism A1298C of the methylenetetrahydrofolate-reductase (MTHFR) gene has been implicated in spontaneous abortion. In this study, we determined the allele and genotype frequencies of this polymorphism in recurrent spontaneous abortion (RSA) and implantation failure after in vitro fertilization (IVF). Materials and Methods We performed a case–control study on 60 women with RSA and 72 women with implantation failure after IVF (both of the groups have a problem in embryo implantation, so each other compare to the health group) and 60 fertile women to investigate the association between MTHFR A1298G, and pregnancy loss by polymerase chain reaction restriction fragment length polymorphism (PCR-RLFP) technique. Results Among the RSA patients 29 (72.5%) were heterozygote and 7 (17.5%) of them were homozygote for MTHFR mutation. In addition, 46 (63.9%) of IVF failure patients were heterozygote and the frequency of homozygote was 17 (23.6%). While in the control group 28 (56.0%) were heterozygote but none of them were homozygote. So the mutation rate of MTHFR in patients with abortion was statistically different from that in controls. Also significant difference was found in the frequencies of MTHFR between the patients and IVF failure group (p <0.001). Conclusion Our study revealed that the genotypes of MTHFR A1298C were significantly associated with increased risk of implantation failure of abortion and IVF failure.

Keywords: Methylenetetrahydrofolate Reductase, Polymorphism; Genetic, Abortion; Spontaneous, Fertilization in Vitro

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