title: Polymorphism in HSD17B6 is associated with key features of polycystic ovary syndrome.
abstract: OBJECTIVE
  To investigate polymorphisms in androgen metabolism regulators that are implicated in the etiology of polycystic ovary syndrome (PCOS) in vitro; to investigate HSD17B6 and GATA6 to determine whether these genes are associated with susceptibility to PCOS or key phenotypic features of patients with PCOS.
  
  
  METHODS
  Case-control association study.
  
  
  METHODS
  Participants with PCOS were recruited from a clinical-practice database, and controls, from the general community.
  
  
  METHODS
  One hundred seventy-three patients with PCOS and who were of Caucasian descent and conformed to the National Institutes of Health (NIH) diagnostic criteria; 107 normally ovulating women of Caucasian descent from the general community.
  
  
  METHODS
  Drawing of blood for DNA extraction.
  
  
  METHODS
  Frequency of HSD17B6 and GATA6 polymorphisms in cases and controls. Association of single-nucleotide polymorphisms from HSD17B6 in subjects with PCOS with key phenotypes of PCOS: androgen status, insulin resistance, and body mass index.
  
  
  RESULTS
  Allele distribution for the single-nucleotide polymorphism rs898611 in HSD17B6 was significantly different between PCOS and control subjects (P=.03). Presence of the polymorphic allele was associated with reduced fasting glucose-insulin ratio (P=.02) and increased homeostasis model assessment (P<.01) and body mass index (P<.001) as well as with reduced T (P=.03) in the PCOS group. No association was seen between GATA6 and any of the variables studied.
  
  
  CONCLUSIONS
  These data suggest that polymorphisms in the HSD17B6 gene are associated with PCOS and key clinical phenotypes of the disorder.
authors.affiliation: Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.
authors.forename: Michelle R
authors.initials: MR
authors.lastname: Jones
authors.forename: Lisa
authors.initials: L
authors.lastname: Italiano
authors.forename: Scott G
authors.initials: SG
authors.lastname: Wilson
authors.forename: Ben H
authors.initials: BH
authors.lastname: Mullin
authors.forename: Robert
authors.initials: R
authors.lastname: Mead
authors.forename: Frank
authors.initials: F
authors.lastname: Dudbridge
authors.forename: Gerald F
authors.initials: GF
authors.lastname: Watts
authors.forename: Bronwyn G A
authors.initials: BG
authors.lastname: Stuckey
mesh_terms: D000328:Adult; D015331:Cohort Studies; D005260:Female; D050993:GATA6 Transcription Factor / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D011085:Polycystic Ovary Syndrome / Q000453:epidemiology* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D019998:Racemases and Epimerases / Q000235:genetics*; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors; D014904:Western Australia / Q000453:epidemiology
chemical_list: D050993:GATA6 Transcription Factor; C494759:GATA6 protein, human; D005819:Genetic Markers; C414602:HSD17B6 protein, human; D019998:Racemases and Epimerases