Luque-Ramírez Manuel, San Millán José Luis, Escobar-Morreale Héctor F
Department of Endocrinology, Hospital Ramón y Cajal, Carretera de Colmenar km 9'1, E-28034 Madrid, Spain.
Clin Chim Acta. 2006 Apr;366(1-2):14-26. doi: 10.1016/j.cca.2005.10.017. Epub 2005 Dec 7.
The polycystic ovary syndrome (PCOS) is a common disorder in premenopausal women, characterized by the presence, among other traits, of hyperandrogenism, insulin resistance, and hyperinsulinism. The familial aggregation of PCOS lead the interest to the molecular genetic basis of this syndrome, especially to the genes encoding proteins involved in androgen synthesis and the regulation of insulin synthesis and action. Considering the relationship between insulin resistance and chronic inflammation, and the clustering of inflammatory markers in PCOS patients, recent studies focused on the involvement of proinflammatory genotypes on the pathogenesis of PCOS. Mounting evidence suggest at present a complex model of inheritance for PCOS, in which predisposing and protecting genomic variants interact with environmental factors such as obesity and a sedentary lifestyle, finally leading to the classic phenotype of this syndrome. Moreover, the association of hyperandrogenism, insulin resistance and chronic inflammation raised the possibility of an increase risk of cardiovascular disease in women suffering from PCOS. In the present review we will summarize the most important findings published to date regarding the molecular genetic mechanisms underlying the association of PCOS with insulin resistance and chronic inflammation, and the possible interaction of these mechanisms with environmental factors.
多囊卵巢综合征（PCOS）是绝经前女性的一种常见疾病，其特征除其他外还包括高雄激素血症、胰岛素抵抗和高胰岛素血症。PCOS的家族聚集性引发了人们对该综合征分子遗传基础的兴趣，尤其是对编码参与雄激素合成以及胰岛素合成与作用调节的蛋白质的基因的兴趣。考虑到胰岛素抵抗与慢性炎症之间的关系以及PCOS患者中炎症标志物的聚集，最近的研究聚焦于促炎基因型在PCOS发病机制中的作用。目前越来越多的证据表明PCOS存在一种复杂的遗传模式，其中易患和保护性基因组变异与肥胖和久坐不动的生活方式等环境因素相互作用，最终导致该综合征的典型表型。此外，高雄激素血症、胰岛素抵抗和慢性炎症之间的关联增加了PCOS女性患心血管疾病风险升高的可能性。在本综述中，我们将总结迄今为止发表的关于PCOS与胰岛素抵抗和慢性炎症关联的分子遗传机制以及这些机制与环境因素可能相互作用的最重要研究结果。
