Polymorphism of Androgen Receptor Gene (CAG)n in Polycystic Ovary Syndrome
DONG Wen-jiao
WANG Yu-xia
YANG Hai-ting
Abstract：The androgen receptor (AR) gene is located on chromosome Xq11-12. There is a CAG repeat sequence in the first exome of AR gene, with the polymorphism of (CAG)n in different race and region. The repeat number or length of (CAG)n of AR gene was found to be negatively correlated with AR activation in those patients with polycystic ovary syndrome (PCOS), while to be positively correlated with the level of androgen. The (CAG)n polymorphism is related to the features of PCOS, such as insulin resistance, acne and hirsutism. Short (CAG)n or fewer copy number of (CAG)n may increase the susceptibility to PCOS. However, the X-chromosome inactivation can adjust the activity of AR. Since the X-chromosome inactivation is related to the AR activity, longer (CAG)n or higher copy number of (CAG)n can increase the risk of PCOS. In this article, the influence of (CAG)n polymorphism of AR gene on the pathophysiology of PCOS was reviewed.
Keywords：Polycystic ovary syndromeReceptorsandrogenPolymorphismrestriction fragment lengthAndrogen receptor gene(CAG)n polymorphism
Publication Date：2017-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 70-73 )