title: Association of glucocorticoid receptor polymorphisms with clinical and metabolic profiles in polycystic ovary syndrome.
abstract: OBJECTIVE
  We aimed to investigate whether glucocorticoid receptor gene polymorphisms are associated with clinical and metabolic profiles in patients with polycystic ovary syndrome. Polycystic ovary syndrome is a complex endocrine disease that affects 5-8% of women and may be associated with metabolic syndrome, which is a risk factor for cardiovascular disease. Cortisol action and dysregulation account for metabolic syndrome development in the general population. As glucocorticoid receptor gene (NR3C1) polymorphisms regulate cortisol sensitivity, we hypothesized that variants of this gene may be involved in the adverse metabolic profiles of patients with polycystic ovary syndrome.
  
  
  METHODS
  Clinical, metabolic and hormonal profiles were evaluated in 97 patients with polycystic ovary syndrome who were diagnosed according to the Rotterdam criteria. The alleles of the glucocorticoid gene were genotyped. Association analyses were performed using the appropriate statistical tests.
  
  
  RESULTS
  Obesity and metabolic syndrome were observed in 42.3% and 26.8% of patients, respectively. Body mass index was positively correlated with blood pressure, triglyceride, LDL-c, total cholesterol, glucose and insulin levels as well as HOMA-IR values and inversely correlated with HDL-c and SHBG levels. The BclI and A3669G variants were found in 24.7% and 13.4% of alleles, respectively. BclI carriers presented a lower frequency of insulin resistance compared with wild-type subjects.
  
  
  CONCLUSIONS
  The BclI variant is associated with a lower frequency of insulin resistance in women with polycystic ovary syndrome. Glucocorticoid gene polymorphism screening during treatment of the syndrome may be useful for identifying subgroups of at-risk patients who would benefit the most from personalized treatment.
authors.affiliation: Faculdade de Medicina, Universidade de São Paulo, Laboratório de Ginecologia Estrutural e Molecular (LIM/58), São PauloSP, Brazil, Faculdade de Medicina da Universidade de São Paulo, Laboratório de Ginecologia Estrutural e Molecular (LIM/58), Disciplina de Ginecologia, São Paulo/SP, Brazil.
authors.forename: Gustavo A Rosa
authors.initials: GA
authors.lastname: Maciel
authors.affiliation: Faculdade de Medicina, Universidade de São Paulo, Laboratório de Hormônios e Genética Molecular (LIM/42), São PauloSP, Brazil, Faculdade de Medicina da Universidade de São Paulo, Laboratório de Hormônios e Genética Molecular (LIM/42), Disciplina de Endocrinologia e Metabologia, São Paulo/SP, Brazil.
authors.forename: Ricardo P P
authors.initials: RP
authors.lastname: Moreira
authors.affiliation: Faculdade de Medicina, Universidade de São Paulo, Departamento de Clínica Médica, São PauloSP, Brazil, Faculdade de Medicina da Universidade de São Paulo, Departamento de Clínica Médica, São Paulo/SP, Brazil.
authors.forename: Diogo D G
authors.initials: DD
authors.lastname: Bugano
authors.affiliation: Faculdade de Medicina, Universidade de São Paulo, Laboratório de Ginecologia Estrutural e Molecular (LIM/58), São PauloSP, Brazil, Faculdade de Medicina da Universidade de São Paulo, Laboratório de Ginecologia Estrutural e Molecular (LIM/58), Disciplina de Ginecologia, São Paulo/SP, Brazil.
authors.forename: Sylvia A Y
authors.initials: SA
authors.lastname: Hayashida
authors.affiliation: Faculdade de Medicina, Universidade de São Paulo, Laboratório de Hormônios e Genética Molecular (LIM/42), São PauloSP, Brazil, Faculdade de Medicina da Universidade de São Paulo, Laboratório de Hormônios e Genética Molecular (LIM/42), Disciplina de Endocrinologia e Metabologia, São Paulo/SP, Brazil.
authors.forename: José A M
authors.initials: JA
authors.lastname: Marcondes
authors.affiliation: Faculdade de Medicina, Universidade de São Paulo, Laboratório de Hormônios e Genética Molecular (LIM/42), São PauloSP, Brazil, Faculdade de Medicina da Universidade de São Paulo, Laboratório de Hormônios e Genética Molecular (LIM/42), Disciplina de Endocrinologia e Metabologia, São Paulo/SP, Brazil.
authors.forename: Larissa G
authors.initials: LG
authors.lastname: Gomes
authors.affiliation: Faculdade de Medicina, Universidade de São Paulo, Laboratório de Hormônios e Genética Molecular (LIM/42), São PauloSP, Brazil, Faculdade de Medicina da Universidade de São Paulo, Laboratório de Hormônios e Genética Molecular (LIM/42), Disciplina de Endocrinologia e Metabologia, São Paulo/SP, Brazil.
authors.forename: Berenice B
authors.initials: BB
authors.lastname: Mendonça
authors.affiliation: Faculdade de Medicina, Universidade de São Paulo, Laboratório de Hormônios e Genética Molecular (LIM/42), São PauloSP, Brazil, Faculdade de Medicina da Universidade de São Paulo, Laboratório de Hormônios e Genética Molecular (LIM/42), Disciplina de Endocrinologia e Metabologia, São Paulo/SP, Brazil.
authors.forename: Tânia A S S
authors.initials: TA
authors.lastname: Bachega
authors.affiliation: Faculdade de Medicina, Universidade de São Paulo, Laboratório de Ginecologia Estrutural e Molecular (LIM/58), São PauloSP, Brazil, Faculdade de Medicina da Universidade de São Paulo, Laboratório de Ginecologia Estrutural e Molecular (LIM/58), Disciplina de Ginecologia, São Paulo/SP, Brazil.
authors.forename: Edmund C
authors.initials: EC
authors.lastname: Baracat
mesh_terms: D000328:Adult; D000483:Alleles; D015992:Body Mass Index; D002784:Cholesterol; D005260:Female; D015200:Fluoroimmunoassay; D005787:Gene Frequency; D019940:Genes, bcl-1 / Q000235:genetics; D006801:Humans; D006973:Hypertension / Q000235:genetics / Q000378:metabolism; D007333:Insulin Resistance / Q000235:genetics; D024821:Metabolic Syndrome / Q000235:genetics / Q000378:metabolism; D009765:Obesity / Q000235:genetics / Q000378:metabolism; D011085:Polycystic Ovary Syndrome / Q000235:genetics* / Q000378:metabolism*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D011965:Receptors, Glucocorticoid / Q000235:genetics*; D012307:Risk Factors; D018709:Statistics, Nonparametric; D013997:Time Factors; D055815:Young Adult
chemical_list: C497713:NR3C1 protein, human; D011965:Receptors, Glucocorticoid; D002784:Cholesterol