雄激素受体基因(CAG)n多态性对多囊卵巢综合征形成的影响

Polymorphism of Androgen Receptor Gene(CAG)n in Polycystic Ovary Syndrome

雄激素受体基因位于染色体Xq11-12上,其第一外显子存在CAG的重复序列,该重复序列(CAG)n在不同种族、地域中存在多态性。雄激素受体基因(CAG)n的长度或重复次数与多囊卵巢综合征(PCOS)患者雄激素受体(AR)活性呈负相关,与雄激素水平呈正相关,且(CAG)n多态性影响PCOS相关特征,如胰岛素抵抗、痤疮及多毛的形成,而短的或重复次数少的(CAG)n可能增加PCOS患者的易感性。但是X染色体失活可以调节AR的效应,如果考虑X染色体失活对AR的影响,则长的或重复次数多的(CAG)n能增加PCOS的患病风险。综述雄激素受体基因(CAG)n多态性对PCOS形成的影响。

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.