多囊卵巢综合征的候选基因研究进展

doi:10.12280/gjszjk.20200465

摘要/Abstract

摘要：

多囊卵巢综合征（polycystic ovary syndrome,PCOS）是以高雄激素血症、稀发/无排卵、多囊卵巢和生育能力下降为主要特征的女性常见生殖内分泌异常疾病。其确切病因、病理机制未明。越来越多研究指出遗传因素在PCOS发病机制中发挥重要作用,认为PCOS可能是一种多基因遗传疾病,其发病可能是某些遗传因素与环境因素交互作用的结果。因此研究PCOS易感基因对该病的病理机制探索及防治具有重要意义。综述近年来PCOS候选基因研究进展,主要从与雄激素生物合成、储备及作用、性腺功能失调、胰岛素抵抗（insulin resistance,IR）、肥胖和慢性炎症等相关的易感基因进行阐述,以期为PCOS的病因、病理机制研究与靶向治疗提供新思路。

关键词: 多囊卵巢综合征, 遗传关联研究, 多态现象,遗传, 多态性,单核苷酸, 多态性,限制性片段长度

Abstract:

Polycystic ovary syndrome (PCOS) is a common female reproductive endocrine disorder characterized by hyperandrogenemia, oligo/anovulation, polycystic ovary and fertility decline. The exact etiology and pathological mechanism are not clear. More and more studies have showed that genetic factors play an important role in the pathogenesis of PCOS, and that PCOS may be a polygenic genetic disease. The pathogenesis of PCOS is the result of the interaction between some genetic factors and environmental factors. Therefore, it is of great significance to study the susceptibility genes of PCOS so as to explore the pathogenesis and prevention of PCOS. In this paper, we review the research progress of PCOS candidate genes, mainly including those susceptible genes related to androgen biosynthesis, reserve and function, gonadal dysfunction, insulin resistance (IR), obesity and chronic inflammation. This review may provide new ideas for the etiology, pathological mechanism and targeted treatment of PCOS.

Key words: Polycystic ovary syndrome, Genetic association studies, Polymorphism, genetic, Polymorphism,single nucleotide, Polymorphism,restriction fragment length

马丽娜, 马红丽, 高敬书, 吴效科. 多囊卵巢综合征的候选基因研究进展[J]. 国际生殖健康/计划生育, 2021, 40(2): 153-156.

MA Li-na, MA Hong-li, GAO Jing-shu, WU Xiao-ke. Candidate Genes Related to Polycystic Ovary Syndrome[J]. Journal of International Reproductive Health/Family Planning, 2021, 40(2): 153-156.

图/表 1

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