多囊卵巢综合征与雄激素作用有关易感基因的研究进展

Research progress on the genes related to androgens in polycystic ovary syndrome

多囊卵巢综合征（polycystic ovary syndrome，PCOS）是育龄女性中最常见的生殖内分泌疾病之一，其临床表现包括月经稀少、不孕、多毛、肥胖等，长期发展将出现多种代谢相关性疾病。目前的研究认为。PCOS是一种复杂的多基因遗传性疾病。PCOS的病因学虽尚未完全阐明，但高雄激素血症是其重要的病理之一。本文综述了PCOS遗传学研究在雄激素合成代谢、储备、作用、调控等相关易感基因领域的研究成果，包括在候选基因研究中，以及在全基因组关联分析和表观遗传学研究中所取得的相关成果。

Polycystic ovary syndrome （PCOS） is one of the most common endocrine disorders in women of reproductive age, resulting in several health complications such as menstrual dysfunction, infertility, hirsutism, acne, obesity, and metabolic syndrome. PCOS is recognized to be a complex polygene disease. Although the cause of PCOS has not been fully clarified, hyperandrogenism is one of the key pathogenesises of PCOS. In this article, we reviewed the effects of genes related to androgen biosynthesis, metabolism, reserve, action and regulation on the pathogenesis of PCOS based on the research progress in the candidate gene studies, genome wide association studies, as well as its epigenetics.