Aim: The aim of this study is to determine if in relation to general population, there is a statistically significant difference in the frequency of alleles and genotypes of the C677T polymorphism of MTHFR gene, amongst women with unknown cause of infertility, who are undergoing in vitro fertilization preparation.
Introduction: Methylenetetrahydrofolate reductase (MTHFR) is an enzyme coded by MTHFR gene. Polymorphism of MTHFR gene C677T leads to decreased function of MTHFR enzyme, which is associated with high level of homocysteine and low concentration of folate, which can undermine female reproductive function and affect the outcome of in vitro fertilization.
Methods: The study included the experimental group consisted of 31 women and the control group consisted of 100 women. C677T polymorphism was detected via PCR/RFLPS method. The statistical difference in genotype and allele frequencies was conducted using the Chi-square test.
Results: The comparison of genotypes amongst the experimental and control group has not shown a statistically significant difference (p>0.05). Frequency of the MTHFR677 TT genotype is 22.6% in the experimental group, and 12.0% in the control group, while the allele T frequency amongst the experimental group was 41.9%, and the frequency of the aforementioned allele amongst the control group was 34.5%.
Conclusion: The results of this study show that there is no statistically significant correlation between MTHFR C677T polymorphism in women with infertility of unknown cause, who are undergoing in vitro fertilization preparation, but also underline the need for further research.
Acknowledgements: Mentor: Professor Dr. Ivana Novaković.