title: Lack of association between CYP21 V281L variant and polycystic ovary syndrome in Italian women.
abstract: OBJECTIVE
  To investigate the association between V281L CYP21 polymorphism and the hyperandrogenic phenotype of polycystic ovary syndrome (PCOS), in a cohort of 110 Italian women.
  
  
  METHODS
  The CYP21 genotype distribution was evaluated in 50 women with PCOS and 60 control subjects. Genotypes were detected using restriction fragment length polymorphism (RFLP) analysis performed on polymerase chain reaction templates from genomic DNA. Genotypes distribution was compared between groups and we considered a p-value less than 0.05 as statistically significant.
  
  
  RESULTS
  The frequency of VV, VL and LL was in agreement with other populations. Nevertheless no significant association was observed between CYP21 polymorphism and the presence of PCOS in an Italian cohort of women.
  
  
  CONCLUSIONS
  Although CYP21 gene, involved in steroidogenesis, is a candidate gene for pathogenesis of PCOS, our data suggest that V281L polymorphism is not associated with PCOS in Italian women; a larger study is needed to confirm this result.
authors.affiliation: Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Pucci
authors.forename: Daniela
authors.initials: D
authors.lastname: Lucchesi
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Longo
authors.forename: Stefano
authors.initials: S
authors.lastname: Del Prato
authors.forename: Silvia
authors.initials: S
authors.lastname: Maffei
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005260:Female; D006801:Humans; D007558:Italy; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D013255:Steroid 21-Hydroxylase / Q000235:genetics*; D044465:White People; D055815:Young Adult
chemical_list: D013255:Steroid 21-Hydroxylase