Gynecology Division, Department of Obstetrics and Gynecology, Clinics Hospital, School of Medicine, University of São Paulo, Sao Paulo, Brazil.
Int J Gynaecol Obstet. 2013 Feb;120(2):115-8. doi: 10.1016/j.ijgo.2012.08.016. Epub 2012 Nov 24.
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.
To review the association between AR gene polymorphism and PCOS.
A systematic review was performed via PUBMED, EMBASE, and LILACS (up to May 31, 2011).
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.
Study characteristics and results were analyzed. Meta-analysis could not be performed because only 2 articles provided odds ratios.
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.
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.
多囊卵巢综合征（PCOS）的特征是排卵功能障碍和高雄激素血症。其发病机制尚不清楚，但遗传因素似乎起一定作用。雄激素受体（AR）基因的多态性与不同的雄激素模式疾病有关。
综述雄激素受体基因多态性与 PCOS 的关系。
通过 PUBMED、EMBASE 和 LILACS（截至 2011 年 5 月 31 日）进行系统评价。
评估 AR 基因（CAG）n 多态性在至少 2 个比较组（PCOS 和对照组）中存在的研究。未包含足够信息的研究被排除。
分析研究特征和结果。由于只有 2 篇文章提供了比值比，因此无法进行荟萃分析。
符合纳入标准的有 10 项研究。有 3 项研究报道了该多态性与 PCOS 之间存在相关性；2 项研究将该疾病与较短的重复序列相关联，而另一些研究则将其与较长的重复序列相关联。
AR 基因多态性似乎是 PCOS 的一个有前途的生物标志物，因为较短的重复序列可能与该疾病有关。然而，需要进一步的研究来充分了解这种关联。
