Mutations in genes related to thrombophilia and hypofibrinolysis have been associated with recurrent pregnancy loss (RPL) and polycystic ovary syndrome (PCOS).

Using PCR-RFLP, we investigated the frequencies of MTHFR (A1298C and C677T) as well as PAI-1 (-675 4G/5G) gene polymorphisms in 177 RPL and 100 control women. RPL women were stratified into 38 women with PCOS (RPL-PCOS), 33 with ovarian PCO (RPL-ovarian PCO), and 106 without PCOS (RPL).

RPL, RPL-PCOS, and RPL-ovarian PCO groups showed significantly higher frequencies of MTHFR A1298C (P < 0.001) and PAI-1 4G/5G (P < 0.001) mutations than the controls. No significant differences were found between the RPL groups. The respective odds ratios (OR) for bearing MTHFR (A1298C, C677T) and PAI-1 (4G/5G) gene mutations were 33.9-, 2.2-, and 5.2-fold higher in RPL, 66.3-, 6.7-, and 2.8-fold higher in RPL-PCOS, and 27.3-, 1.9-, and 3.9-fold higher in RPL-ovarian PCO women than those in controls.

Our results showed the significance of MTHFR A1298C and PAI-1 4G/5G mutations in Iranian women suffering from RPL with and without PCOS.