多囊卵巢综合征(polycystic ovary syndrome,PCOS)是一种常见的异质性内分泌疾病,是导致女性不孕的常见因素。该病的病因仍不明了,遗传因素在其发病中起一定作用。分子遗传学研究表明,PCOS发生机制与影响甾体激素、促性腺激素、性腺激素和胰岛素的合成和代谢以及物质能量调节的基因密切相关,其中一些关键基因,如胆固醇侧链裂解(CYP11A)基因、芳香化酶(CYP19)基因、17β-类固醇脱氢酶(17β-HSD)基因、促卵泡素基因受体(FSHR)基因、雄激素受体(AR)基因、雌激素受体(ER)基因、性激素结合球蛋白(SHBG)基因、过氧化物体增殖激活受体(PPARγ)基因、脂联素(adiponectin)基因、胰岛素基因的微卫星(INS VNTR)、胰岛素受体(INSR)基因、胰岛素受体底物蛋白(IRS)基因等的多态性尤其是单核苷酸多态性可能起重要的作用。 Polycystic ovary syndrome (PCOS) is a common heterogeneous endocrine disease that is a common cause of female infertility. The etiology of the disease is still unknown, and genetic factors play a role in its pathogenesis. Molecular genetic studies have shown that the mechanism of PCOS is closely related to the genes that affect the synthesis and metabolism of steroid hormones, gonadotrophins, gonadal hormones and insulin, as well as the energy regulation of substances. Some of the key genes such as the cholesterol side chain cleavage (CYP11A) gene , Aromatase (CYP19), 17β-steroid dehydrogenase (17β-HSD), follicle stimulating hormone receptor (FSHR), androgen receptor (AR), estrogen receptor (ER) The binding of globulin (SHBG) gene, PPARγ gene, adiponectin gene, INS VNTR gene, insulin receptor (INSR) gene, insulin receptor Polymorphisms, especially single nucleotide polymorphisms, such as the protein (IRS) gene may play an important role.