title: Plasminogen activator inhibitor 1 and methylenetetrahydrofolate reductase gene mutations in iranian women with polycystic ovary syndrome.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  Our results showed the significance of MTHFR A1298C and PAI-1 4G/5G mutations in Iranian women suffering from RPL with and without PCOS.
authors.affiliation: Reproductive Immunology Research Center, Avicenna Research Institute, Tehran, Iran.
authors.forename: Farah
authors.initials: F
authors.lastname: Idali
authors.forename: Said
authors.initials: S
authors.lastname: Zareii
authors.forename: Afsane
authors.initials: A
authors.lastname: Mohammad-Zadeh
authors.forename: Fakhreddin
authors.initials: F
authors.lastname: Reihany-Sabet
authors.forename: Zoreh
authors.initials: Z
authors.lastname: Akbarzadeh-Pasha
authors.forename: Hamid-Reza
authors.initials: HR
authors.lastname: Khorram-Khorshid
authors.forename: Amir-Hassan
authors.initials: AH
authors.lastname: Zarnani
authors.forename: Mahmood
authors.initials: M
authors.lastname: Jeddi-Tehrani
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007492:Iran; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics*; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D055815:Young Adult
chemical_list: D017395:Plasminogen Activator Inhibitor 1; D042965:Methylenetetrahydrofolate Reductase (NADPH2)