Advertisement

MTHFR gene polymorphisms (C677T, A1298C and G1793A) in infertile women with endometriosis and its correlation with follicular fluid and serum homocysteine: pilot study

      Objective

      To investigate associations between folate-metabolizing MTHFR gene polymorphisms (C677T, A1298C and G1793A) and the levels of HCY in blood and FF of infertile women with endometriosis.

      Design

      Follicular fluid (FF) provides a very important microenvironment for the development of oocytes. Therefore, it is reasonable to think that some biochemical characteristics of the FF may play a critical role in determining oocyte quality and pregnancy at last. Homocysteine (HCY) is a metabolite of methionin present in FF, which accumulation is responsible for negative effects on female reproductive functions, such as, reduced cell division, inflammatory cytokine production, increased oxidative stress, elevated apoptosis, and disturbed methylation reactions. The 5,10-methylenetetrahydrofolate reductase (MTHFR) gene is involved in the folate methylation cycle, where homocysteine is converted to methionine.

      Materials and methods

      Case-control studied included 51 infertile women with endometriosis and 80 male factor infertility women as control group. Detection of MTHFR genotyping was performed using TaqMan PCR and the measurement of HCY in blood and FF was done using HPLC method. The Kruscal Wallis test was used to detect HCY concentration differences, while the chi–squared test was used to detect differences genotype frequencies between patients and controls, to estimate the Hardy-Weinberg equilibrium and to calculate the power of the test. A P-value < 0.05 was considered statistically significant.

      Results

      We were able to demonstrate a statistically significant association between genotype frequencies of the MTHFR G1793A polymorphism and endometriosis-related infertility (P<0.001). The presence of the polymorphic genotype for G1793A also showed a statistical difference in HCY concentrations in FF (P=0.029), and not for serum HCY.

      Conclusion

      The results suggest that MTHFR G1793A polymorphism may play an important role in endometriosis-related infertility and in the maintenance of lower levels of HCY in FF.