title: Estrogen receptor αlpha gene (ESR1) PvuII and XbaI polymorphisms are associated to metabolic and proinflammatory factors in polycystic ovary syndrome.
abstract: BACKGROUND
  Polycystic ovary syndrome (PCOS) is a complex endocrine disorder that involves multiple factors. Although the etiology of PCOS is unknown, there is an involvement of sex steroid hormones in the pathophysiology of this syndrome. Therefore, polymorphisms in genes involved in the action of estrogen may contribute to a woman's susceptibility to PCOS.
  
  
  OBJECTIVE
  This study aimed to evaluate the association between the polymorphisms PvuII and XbaI in the estrogen receptor alpha (ESR1) gene and the occurrence of PCOS. The study also aimed to assess the influence of these polymorphisms on the metabolic and inflammatory profiles of women with PCOS.
  
  
  METHODS
  This case-control study included 99 women with PCOS, diagnosed according to the Rotterdam criteria, and 104 age-matched healthy women. The polymorphisms were evaluated using polymerase chain reaction-restriction fragment length polymorphism.
  
  
  RESULTS
  No association between the ESR1 gene polymorphisms and the presence of PCOS was observed. However, we found associations between the PvuII polymorphism and C-reactive protein levels, testosterone levels, family history of diabetes, and waist circumference. The XbaI polymorphism was associated with fasting glucose and a family history of hypertension.
  
  
  CONCLUSIONS
  These polymorphisms are not associated with PCOS development, but they are involved in the phenotype of complications of the syndrome. Therefore, prior knowledge of these genomic variants might contribute to taking preventive measures that could delay the metabolic and reproductive complications commonly seen in women with PCOS.
authors.affiliation: Faculdade de Farmácia, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.
authors.forename: F S
authors.initials: FS
authors.lastname: Silva
authors.affiliation: Faculdade de Farmácia, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.
authors.forename: M O
authors.initials: MO
authors.lastname: Sóter
authors.affiliation: Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.
authors.forename: M F
authors.initials: MF
authors.lastname: Sales
authors.affiliation: Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.
authors.forename: A L
authors.initials: AL
authors.lastname: Candido
authors.affiliation: Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.
authors.forename: F M
authors.initials: FM
authors.lastname: Reis
authors.affiliation: Faculdade de Farmácia, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.
authors.forename: I F O
authors.initials: IF
authors.lastname: Silva
authors.affiliation: Faculdade de Farmácia, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.
authors.forename: M O
authors.initials: MO
authors.lastname: Sousa
authors.affiliation: Colégio Técnico, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.
authors.forename: C N
authors.initials: CN
authors.lastname: Ferreira
authors.affiliation: Faculdade de Farmácia, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil; Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil. Electronic address: karinabgb@gmail.com.
authors.forename: K B
authors.initials: KB
authors.lastname: Gomes
mesh_terms: D000328:Adult; D001786:Blood Glucose / Q000235:genetics / Q000378:metabolism; D002097:C-Reactive Protein / Q000378:metabolism; D016022:Case-Control Studies; D015257:DNA-Cytosine Methylases / Q000378:metabolism; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D018836:Inflammation Mediators / Q000378:metabolism; D007333:Insulin Resistance / Q000235:genetics; D008875:Middle Aged; D011085:Polycystic Ovary Syndrome / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D012150:Polymorphism, Restriction Fragment Length; D055815:Young Adult
chemical_list: D001786:Blood Glucose; C506487:ESR1 protein, human; D047628:Estrogen Receptor alpha; D018836:Inflammation Mediators; D002097:C-Reactive Protein; C047084:DNA modification methylase PvuII; D015257:DNA-Cytosine Methylases; C025580:endodeoxyribonuclease XBAI; D015252:Deoxyribonucleases, Type II Site-Specific
keywords: Estrogen receptor alpha; Polycystic ovary syndrome; Polymorphisms; PvuII; XbaI