• PMID: 22882325
• Gene Name: SERPINE1
• Condition: Recurrent pregnancy loss, PCOS
• Association: The results showed the significance of MTHFR A1298C and PAI-1 4G/5G mutations in Iranian women suffering from RPL with and without PCOS.
• Mutation: MTHFR A1298C and PAI-1 4G/5G
• Population size: 277
• Population details: 277 (177 RPL (38 women with PCOS (RPL-PCOS), 33 with ovarian PCO (RPL-ovarian PCO), 106 without PCOS (RPL)), 100 controls)
• Sex: Female
• Infertility type: Male infertility
• Associated genes: MTHFR, PAI-1
• Other associated phenotypes: Recurrent pregnancy loss, PCOS

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

Idali F, Zareii S, Mohammad-Zadeh A, Reihany-Sabet F, Akbarzadeh-Pasha Z, Khorram-Khorshid HR, Zarnani AH, Jeddi-Tehrani M.

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). RESULTS: 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. CONCLUSION: Our results showed the significance of MTHFR A1298C and PAI-1 4G/5G mutations in Iranian women suffering from RPL with and without PCOS. CI - © 2012 John Wiley & Sons A/S. FAU - Idali, Farah AU - Idali F AD - Reproductive Immunology Research Center, Avicenna Research Institute, Tehran, Iran. FAU - Zareii, Said AU - Zareii S FAU - Mohammad-Zadeh, Afsane AU - Mohammad-Zadeh A FAU - Reihany-Sabet, Fakhreddin AU - Reihany-Sabet F FAU - Akbarzadeh-Pasha, Zoreh AU - Akbarzadeh-Pasha Z FAU - Khorram-Khorshid, Hamid-Reza AU - Khorram-Khorshid HR FAU - Zarnani, Amir-Hassan AU - Zarnani AH