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 ( A 1298 C and C 677 T ) as well as PAI ‐1 (‐675 4 G /5 G ) 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 ). Results RPL , RPL ‐ PCOS , and RPL ‐ovarian PCO groups showed significantly higher frequencies of MTHFR A 1298 C ( P  < 0.001) and PAI ‐1 4 G /5 G ( P  < 0.001) mutations than the controls. No significant differences were found between the RPL groups. The respective odds ratios ( OR ) for bearing MTHFR ( A 1298C, C 677 T ) 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. Conclusion Our results showed the significance of MTHFR A 1298 C and PAI ‐1 4 G /5 G mutations in Iranian women suffering from RPL with and without PCOS .