Document Detail

Lack of association between CYP21 V281L variant and polycystic ovary syndrome in Italian women.
MedLine Citation:
PMID:  20201644     Owner:  NLM     Status:  MEDLINE    
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.
Laura Pucci; Daniela Lucchesi; Vincenzo Longo; Stefano Del Prato; Silvia Maffei
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology     Volume:  26     ISSN:  1473-0766     ISO Abbreviation:  Gynecol. Endocrinol.     Publication Date:  2010 Aug 
Date Detail:
Created Date:  2010-07-16     Completed Date:  2010-10-28     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8807913     Medline TA:  Gynecol Endocrinol     Country:  England    
Other Details:
Languages:  eng     Pagination:  596-9     Citation Subset:  IM    
Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy.
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MeSH Terms
Case-Control Studies
European Continental Ancestry Group
Polycystic Ovary Syndrome / genetics*
Polymorphism, Single Nucleotide
Steroid 21-Hydroxylase / genetics*
Young Adult
Reg. No./Substance:
EC 21-Hydroxylase

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