Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology, University of Patras Medical School, University Hospital, Patras, Greece.
Eur J Endocrinol. 2012 Apr;166(4):695-702. doi: 10.1530/EJE-11-0894. Epub 2012 Jan 5.
The polycystic ovary syndrome (PCOS) is a common and complex disease with unclear pattern of inheritance, characterized by an androgen excess, while hyperinsulinemia and insulin resistance (IR) are common features of the syndrome. The angiotensin I converting enzyme (ACE) insertion (I)/deletion (D) gene polymorphism was proved to be involved in many pathophysiological conditions, including hypertension and IR.
The purpose of this study was to evaluate the involvement of the ACE gene polymorphism in the pathogenesis of PCOS.
In a case-control association study involving 801 PCOS women and 266 healthy controls, hormonal determinations and ACE polymorphism genotyping were performed. The PCOS women were classified into three groups: Group A presented biochemical hyperandrogenism, combined with anovulation and polycystic ovarian morphology; Group B, clinical hyperandrogenism combined with anovulation and polycystic ovarian morphology; and Group C, chronic anovulation and polycystic ovarian morphology.
A significant increase in the frequency of the DI genotype of the ACE polymorphism was detected in PCOS women as a whole (P=0.035), in PCOS Group A (P=0.039) and Group B (P=0.010), while there was no difference in Group C (P=0.939). Significant difference was also observed in hyperandrogenic PCOS women as a whole (Group A+B) (P=0.017). The II genotype was positively correlated with HOMA-IR and QUICKI and with fasting insulin and glucose/insulin ratio in these groups.
The association study of the ACE I/D polymorphism in PCOS women demonstrates an increase in the DI genotype incidence and an association of the II genotype with IR.
多囊卵巢综合征（PCOS）是一种常见且复杂的疾病，其遗传模式尚不明确，以雄激素过多为特征，而高胰岛素血症和胰岛素抵抗（IR）是该综合征的常见特征。血管紧张素 I 转换酶（ACE）插入（I）/缺失（D）基因多态性已被证明与许多病理生理状况有关，包括高血压和 IR。
本研究旨在评估 ACE 基因多态性在 PCOS 发病机制中的作用。
在一项涉及 801 名 PCOS 女性和 266 名健康对照的病例对照关联研究中，进行了激素测定和 ACE 多态性基因分型。将 PCOS 女性分为三组：A 组表现为生化性高雄激素血症，伴有排卵障碍和多囊卵巢形态；B 组表现为临床高雄激素血症，伴有排卵障碍和多囊卵巢形态；C 组表现为慢性排卵障碍和多囊卵巢形态。
在整个 PCOS 女性中，ACE 多态性 DI 基因型的频率显著增加（P=0.035），在 PCOS A 组（P=0.039）和 B 组（P=0.010）中，而在 C 组中没有差异（P=0.939）。在整个 PCOS 女性中，高雄激素血症患者也存在显著差异（A+B 组）（P=0.017）。这些组中，II 基因型与 HOMA-IR 和 QUICKI 呈正相关，与空腹胰岛素和血糖/胰岛素比值呈正相关。
PCOS 女性 ACE I/D 多态性的关联研究表明，DI 基因型的发生率增加，II 基因型与 IR 相关。
