多囊卵巢综合征(PCOS)是育龄妇女最常见的生殖内分泌紊乱性疾病,具有高度遗传异质性,其致病原因迄今不明。PCOS有高度的家族聚集性,提示遗传因素在发病中起重要作用。遗传学研究表明,影响这些激素代谢和调节的多种基因参与了该病的发生,PCOS典型的临床表现使研究者着重关注影响雄激素代谢、胰岛素抵抗等基因,近年来有七十余种基因在研究中。就与雄激素合成和调节有关的基因,与胰岛素抵抗和代谢紊乱有关的基因,与炎症有关的基因的研究进展作综述。 Polycystic ovary syndrome (PCOS) is the most common reproductive endocrine disorders in women of childbearing age, with a high degree of genetic heterogeneity, the etiology of so far unknown. PCOS has a high degree of familial aggregation, suggesting that genetic factors play an important role in the pathogenesis. Genetic studies have shown that a variety of genes that affect the metabolism and regulation of these hormones are involved in the occurrence of the disease. The typical clinical manifestations of PCOS make researchers focus on genes that affect androgen metabolism and insulin resistance. In recent years, more than 70 genes In research. This review summarizes the research progress of genes related to androgen synthesis and regulation, genes related to insulin resistance and metabolic disorders, and genes related to inflammation.