Methylenotetrahydrololate reductase A1298C and C677T polymorphisms and adverse pregnancy outcome in women with PCOS.

OBJECTIVES: The aim of this study was to compare SNP C677T and A1298C in the MTHFR gene and pregnancy outcome in PCOS women.

STUDY DESIGN: We investigated 76 PCOS and 56 non-PCOS women. Among PCOS patients 63 were women with a history of recurrent pregnancy loss (RPL) and 13 women were infertile. In non-PCOS group 40 women were RPL and 16 were infertile. We investigated the relationship between SNP in the MTHFR gene and pregnancy loss, homocysteine and AMH concentration in the study groups.

RESULTS: DNA analysis of the PCOS and non-PCOS groups for MTHFR C677T and A1298C polymorphism showed no significant association between the groups. We demonstrated an increased miscarriage rate in non-PCOS women with A1298C polymorphism in the MTHFR gene (p=0.042). We found that homocysteine concentration was higher in women with SNP MTHFR A1298C (p=0.046). Moreover, we did not observe any association between the level of homocysteine and the pregnancy outcome in the whole study group.

CONSLUSION: It seems that the presence of the MTHFR mutation is not associated with PCOS in the Polish population. However, our results may suggest a correlation between the MTHFR A1298C mutation and RPL in the non-PCOS group.