title: Association of polycystic ovary syndrome susceptibility single nucleotide polymorphism rs2479106 and PCOS in Caucasian patients with PCOS or hirsutism as referral diagnosis.
abstract: BACKGROUND
  Polycystic ovary syndrome (PCOS) is the most common endocrine disease among premenopausal women. A recent study found association between three single nucleotide polymorphisms (SNPs) and PCOS in a cohort of Han Chinese women.
  
  
  OBJECTIVE
  To investigate the association between rs13405728 (LHCGR gene), rs13429458 (THADA gene) and rs2479106 (DENND1A gene), PCOS, hirsutism and metabolic and hormonal parameters in a well characterized cohort of Caucasian patients of Danish descendant with PCOS or hirsutism.
  
  
  METHODS
  Patients underwent clinical examination, hormone analyses, oral glucose tolerance test and transvaginal ultrasound. Genetic variation was tested using allelic discrimination by real-time PCR.
  
  
  METHODS
  268 patients referred to The Department of Endocrinology, Odense University Hospital, Denmark with PCOS or hirsutism between 1997 and 2011. Two hundred and forty-eight healthy females were included as controls.
  
  
  RESULTS
  Genotype distributions and allele frequencies of rs13405728, rs13429458, and rs2479106 were comparable in patients and controls. The rs2479106 G allele was associated with a decreased PCOS susceptibility. None of the SNPs were associated with hirsutism or increased metabolic parameters.
  
  
  CONCLUSIONS
  The rs2479106 G allele was associated with decreased PCOS susceptibility, thus confirming previously reported findings of association between rs2479106 and PCOS. Metabolic and hormonal parameters were comparable between genotypes of rs13405728 and rs2479106.
authors.affiliation: Department of Endocrinology, Odense University Hospital, 5000 Odense C, Denmark. mette.eriksen@ouh.regionsyddanmark.dk
authors.forename: Mette B
authors.initials: MB
authors.lastname: Eriksen
authors.forename: Klaus
authors.initials: K
authors.lastname: Brusgaard
authors.forename: Marianne
authors.initials: M
authors.lastname: Andersen
authors.forename: Qihua
authors.initials: Q
authors.lastname: Tan
authors.forename: Magda L
authors.initials: ML
authors.lastname: Altinok
authors.forename: Michael
authors.initials: M
authors.lastname: Gaster
authors.forename: Dorte
authors.initials: D
authors.lastname: Glintborg
mesh_terms: D000818:Animals; D053418:Death Domain Receptor Signaling Adaptor Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D020662:Guanine Nucleotide Exchange Factors; D006628:Hirsutism / Q000235:genetics*; D006801:Humans; D009363:Neoplasm Proteins / Q000235:genetics; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics
chemical_list: C571984:DENND1A protein, human; D053418:Death Domain Receptor Signaling Adaptor Proteins; D020662:Guanine Nucleotide Exchange Factors; D009363:Neoplasm Proteins; C477698:THADA protein, human