Lack of association between CYP21 V281L variant and polycystic ovary syndrome in italian women

Aim. 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. Conclusion. 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.