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.