雄激素受体基因(CAG)n多态性对PCOS形成的影响

【摘 要】 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。本文综述雄激素受体基因(CAG)n多态性对PCOS形成的影响。

Influence of Androgen receptor gene (CAG)n Polymorphism to the formation of PCOS

【Abstract】The androgen receptor gene locates on chromosome Xq11-12; its first exome exists in CAG repeat sequence; while (CAG)n repeat sequence is polymorphism in different race and region. The repeat number or length of androgen receptor gene (CAG)n shows a negative correlation with androgen receptor (AR) activation of Polycystic ovarian syndrome (PCOS); whereas androgen levels are positively correlated; and (CAG)n polymorphism affects the related features of PCOS, such as insulin resistance, formation of acne and hairy. Short or fewer repeat number of (CAG)n may increase susceptibility to PCOS patients. Whereas the inactivation of X chromosome can adjust the AR effect; supposing inactivation of X chromosome does have effect on AR, and longer or higher repeat number of (CAG)n can increase the risk of PCOS. This article reviews the influence of androgen receptor gene (CAG)n polymorphism on the formation of PCOS.