title: The prevalence of 4G5G polymorphism of plasminogen activator inhibitor-1 (PAI-1) gene in polycystic ovarian syndrome and its association with plasma PAI-1 levels.
abstract: OBJECTIVE
  To investigate the prevalence of 4G5G polymorphism of plasminogen activator inhibitor-1 (PAI-1) gene in polycystic ovary syndrome (PCOS) and its functional significance.
  
  
  METHODS
  Case-control study.
  
  
  METHODS
  We studied 98 patients and 64 controls. Body mass index (BMI) and waist-to-hip (WHR) ratio were determined. Blood samples were obtained for DNA analysis. PAI-1 plasma levels, serum total testosterone, fasting insulin and fasting glucose were measured and the glucose-to-insulin ratio was estimated in all subjects.
  
  
  RESULTS
  There was a statistically significant difference in the distribution of PAI-1 gene variations among the groups. The PCOS group had significantly higher 4G/4G and 4G/5G combinations than the control group, whereas there were significantly less 5G/5G. Among the PCOS women, 39.8% had the genotype 4G/4G, 39.8% 4G/5G and 20.4% 5G/5G. From the control group, 20.3% had genotype 4G/4G, 28.1% 4G/5G and 51.6% 5G/5G. In the 4G/4G genotype subgroup 75% were PCOS and 25% were controls, in the 4G/5G were 68.42% and 31.58% and in the 5G/5G were 31.58% and 62.26% respectively. The population of PCOS women had significantly higher PAI-1 levels, WHR, total testosterone, and fasting glucose than the population of controls.
  
  
  CONCLUSIONS
  1) The genotypic subtypes 4G/4G and 4G/5G, in PCOS, were present with a statistically higher frequency compared with controls. 2) PCOS women have higher levels of PAI-1 compared with the control group. 3) The presence of the 4G allele in PAI-1 promoter region of the gene further increases the PAI-1 levels.
authors.affiliation: Endocrine Section of First Department of Internal Medicine, Athens University School of Medicine, Laiko General Hospital, 17 Aghiou Thoma str, Athens 115 27, Greece. akandara@otenet.gr
authors.forename: Evanthia
authors.initials: E
authors.lastname: Diamanti-Kandarakis
authors.forename: Gaetano
authors.initials: G
authors.lastname: Palioniko
authors.forename: Krystallenia
authors.initials: K
authors.lastname: Alexandraki
authors.forename: Angeliki
authors.initials: A
authors.lastname: Bergiele
authors.forename: Thenia
authors.initials: T
authors.lastname: Koutsouba
authors.forename: Michael
authors.initials: M
authors.lastname: Bartzis
mesh_terms: D000328:Adult; D000483:Alleles; D001786:Blood Glucose / Q000032:analysis; D001824:Body Constitution; D015992:Body Mass Index; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007328:Insulin / Q000097:blood; D017395:Plasminogen Activator Inhibitor 1 / Q000097:blood* / Q000235:genetics*; D011085:Polycystic Ovary Syndrome / Q000097:blood / Q000235:genetics*; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics; D013739:Testosterone / Q000097:blood
chemical_list: D001786:Blood Glucose; D007328:Insulin; D017395:Plasminogen Activator Inhibitor 1; D013739:Testosterone