title: CYP11A1 and CYP17 promoter polymorphisms associate with hyperandrogenemia in polycystic ovary syndrome.
abstract: OBJECTIVE
  To analyze promoter regions of CYP11A1 and CYP17 for putative variations in a defined group of women with polycystic ovary syndrome (PCOS) and to study their association with androgen levels.
  
  
  METHODS
  Retrospective study.
  
  
  METHODS
  A secondary referral center for infertility at National Institute for Research in Reproductive Health, Mumbai, India.
  
  
  METHODS
  One hundred women whose condition was diagnosed on the basis of the Rotterdam consensus were compared against 100 age-matched controls.
  
  
  METHODS
  A single sample of blood was collected after overnight fast on day 3 of the menstrual cycle.
  
  
  METHODS
  Plasma levels of T, androstenedione, 17alpha-hydroxyprogesterone, and DHEAS and nucleotide sequence of promoter regions of CYP11A1 and CYP17 genes.
  
  
  RESULTS
  Polymorphisms in promoter regions of the two key androgen-regulating genes, CYP11A1 and CYP17, were found to be significantly associated with T levels in the cohort of well-characterized PCOS cases as compared with controls. The significance was greater in the PCOS cases with both the polymorphisms.
  
  
  CONCLUSIONS
  Our study carried out in a defined group of Indian women with PCOS suggests for the first time an individual, as well as combined, association of polymorphisms in CYP11A1 and CYP17 promoters with T levels.
authors: Department of Molecular Endocrinology, National Institute for Research in Reproductive Health, Mumbai, India.
authors: Madhavi
authors: M
authors: Pusalkar
authors: Pervin
authors: P
authors: Meherji
authors: Jyotsna
authors: J
authors: Gokral
authors: Saravanan
authors: S
authors: Chinnaraj
authors: Anurupa
authors: A
authors: Maitra
mesh_terms: D002786:Cholesterol Side-Chain Cleavage Enzyme / Q000235:genetics*; D015897:Comorbidity; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D006913:Hydroxysteroid Dehydrogenases / Q000235:genetics*; D017588:Hyperandrogenism / Q000453:epidemiology* / Q000235:genetics*; D015994:Incidence; D007194:India / Q000453:epidemiology; D011085:Polycystic Ovary Syndrome / Q000453:epidemiology* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics; D018570:Risk Assessment; D012307:Risk Factors; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*; D055815:Young Adult
chemical_list: D006913:Hydroxysteroid Dehydrogenases; C035507:3(17)-hydroxysteroid dehydrogenase; D013254:Steroid 17-alpha-Hydroxylase; D002786:Cholesterol Side-Chain Cleavage Enzyme