title: Role of the CAG repeat polymorphism of the androgen receptor gene in polycystic ovary syndrome (PCOS).
abstract: BACKGROUND
  Polycystic ovary syndrome (PCOS) is a frequent heterogenic disorder with a familial background. Androgenic effects, determining the clinical features of the syndrome, are mediated by the androgen receptor (AR), whose activity is modulated by a genetic polymorphism. We investigated the role of the CAG repeat polymorphism of the androgen receptor in PCOS.
  
  
  METHODS
  In the infertility unit of a university clinic, 72 PCOS patients were compared with 179 ovulatory controls undergoing a standardized diagnostic work-up. The number of CAG repeats was determined by PCR, labelling with IR-800 and PAGE. X-chromosome inactivation was assessed by a methylation-sensitive assay.
  
  
  RESULTS
  Compared to controls, PCOS patients displayed a shorter mean CAG repeat length, encoding for higher AR activity (P=0.001). CAG repeat length correlated inversely with oligomenorrhea, a central androgen dependent feature of the syndrome (P=0.005). In a binomial regression analysis including BMI, LH and free testosterone, CAG repeat length was identified as an independent risk factor for PCOS (P=0.002).
  
  
  CONCLUSIONS
  The CAG repeat polymorphism could constitute one of the genetic factors modulating the syndrome's phenotype, contributing to its clinical heterogeneity and associated metabolic consequences.
authors: Department of Obstetrics and Gynecology, Münster University Hospital, Münster, Germany. Andreas.Schuering@ukmuenster.de
authors: A N
authors: AN
authors: Schüring
authors: A
authors: A
authors: Welp
authors: J
authors: J
authors: Gromoll
authors: M
authors: M
authors: Zitzmann
authors: B
authors: B
authors: Sonntag
authors: E
authors: E
authors: Nieschlag
authors: R R
authors: RR
authors: Greb
authors: L
authors: L
authors: Kiesel
mesh_terms: D000328:Adult; D001483:Base Sequence; D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008597:Menstrual Cycle / Q000235:genetics / Q000502:physiology; D010641:Phenotype; D011085:Polycystic Ovary Syndrome / Q000209:etiology / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic / Q000502:physiology; D011944:Receptors, Androgen / Q000235:genetics* / Q000502:physiology; D012307:Risk Factors; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*; D049951:X Chromosome Inactivation / Q000502:physiology; D055815:Young Adult
chemical_list: D011944:Receptors, Androgen