title: Evaluating reported candidate gene associations with polycystic ovary syndrome.
abstract: OBJECTIVE
  To replicate variants in candidate genes associated with polycystic ovary syndrome (PCOS) in a population of European women with PCOS and control subjects.
  
  
  METHODS
  Case-control association analysis and meta-analysis.
  
  
  METHODS
  Major academic hospital.
  
  
  METHODS
  Women of European ancestry with PCOS (n = 525) and controls (n = 472), aged 18-45 years.
  
  
  METHODS
  Variants previously associated with PCOS in candidate gene studies were genotyped (n = 39). Metabolic, reproductive, and anthropomorphic parameters were examined as a function of the candidate variants. All genetic association analyses were adjusted for age, body mass index, and ancestry and were reported after correction for multiple testing.
  
  
  METHODS
  Association of candidate gene variants with PCOS.
  
  
  RESULTS
  Three variants, rs3797179 (SRD5A1), rs12473543 (POMC), and rs1501299 (ADIPOQ), were nominally associated with PCOS. However, they did not remain significant after correction for multiple testing, and none of the variants replicated in a sufficiently powered meta-analysis. Variants in the FBN3 gene (rs17202517 and rs73503752) were associated with smaller waist circumferences, and variant rs727428 in the SHBG gene was associated with lower sex hormone-binding globulin levels.
  
  
  CONCLUSIONS
  Previously identified variants in candidate genes do not seem to be associated with PCOS risk.
  
  
  BACKGROUND
  NCT00166569.
authors: Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. cta@partners.org
authors: Cindy
authors: C
authors: Pau
authors: Richa
authors: R
authors: Saxena
authors: Corrine Kolka
authors: CK
authors: Welt
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies / Q000379:methods*; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D011085:Polycystic Ovary Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D055815:Young Adult
chemical_list: D005819:Genetic Markers
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