多囊卵巢综合征遗传学研究新进展

Genetics of the Polycystic Ovary Syndrome

多囊卵巢综合征(PCOS)是一种复杂的生殖内分泌疾病,主要特征是月经稀发或闭经、高雄激素血症以及卵巢多囊样改变。遗传因素在PCOS发病中的重要作用已经得到证实,许多候选基因也被识别。目前发现的易感基因主要包括参与甾体激素生物合成、转运、作用和调节的相关基因,慢性炎症相关基因,胰岛素抵抗和转化生长因子β(TGF-β)通路相关基因等。全基因组关联研究(genome-wide association study,GWAS)为了解PCOS的发病机制提供了新方向。然而,由于PCOS患者基因和表型复杂,目前遗传学研究仍未得出明确结论。现对PCOS遗传学研究最新进展进行综述。

Polyeystic ovary syndrome （PCOS） is a highly complex endocrine disorder,characterized by oligomenorrhea or amenorrhea, hyperandrogenemia, and polyeystic ovaries. Genetic factors play important roles in PCOS etiology, and many candidate genes have been identified. Currently,the proposed susceptible genes include those involved in the regulation of steroid hormone biosynthesis and function ,chronic inflammation ,and insulin and TGF-I~ signaling pathway. The promising start of genome-wide association study（GWAS） provides new insights into the pathogenesis of PCOS. However, due to the genetic and phenotypic heterogeneity of PCOS, there is not a conclusion on the specific contributing genes of PCOS. In this review,we discussed the progress of the genetic analysis of PCOS.