Androgen receptor gene polymorphism and polycystic ovary syndrome

Background: Polycystic ovary syndrome (PCOS) is characterized by ovulatory dysfunction and hyperandrogenism. Its etiopathology is not well understood but genetic factors seem to have a role. Polymorphism of the androgen receptor (AR) gene has been associated with different androgen pattern diseases. Objective: To review the association between AR gene polymorphism and PCOS. Search strategy: A systematic review was performed via PUBMED, EMBASE, and LILACS (up to May 31, 2011). Selection criteria: Studies assessing the presence of the (CAG)(n) polymorphism of the AR gene in at least 2 comparison groups (PCOS and control). Studies that did not contain adequate information were excluded. Data collection and analysis: Study characteristics and results were analyzed. Meta-analysis could not be performed because only 2 articles provided odds ratios. Main results: Ten studies met the inclusion criteria. Three studies reported a correlation between the polymorphism and PCOS; 2 studies linked the disorder to shorter repeats, whereas the other associated it with longer repeats. Conclusion: Polymorphism of the AR gene seems to be a promising biomarker for PCOS because shorter repeats may be linked to the disorder. However, further studies are needed to understand the association fully. (c) 2012 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.