Plasminogen activator inhibitor 1 and methylenetetrahydrofolate reductase gene mutations in iranian women with polycystic ovary syndrome.

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

Methods: 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).