国际妇产科学杂志

国际妇产科学杂志 ›› 2015, Vol. 42 ›› Issue (3): 301-305.

• 综述 • 上一篇    下一篇

多囊卵巢综合征基因多态性的研究进展

高婧，陈晨   

  1. 200025 上海交通大学医学院附属瑞金医院妇产科
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2015-06-15 发布日期:2015-06-15
  • 通讯作者: 陈晨

Research Progress on Gene Polymorphism of Polycystic Ovary Syndrome

GAO Jing, CHEN Chen   

  1. Department of Obstetrics and Gynecology, Rui Jin Hospital，Shanghai Jiao Tong University School of Medicine, Shanghai 200025,China
  • Received:1900-01-01 Revised:1900-01-01 Published:2015-06-15 Online:2015-06-15
  • Contact: CHEN Chen

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5450

被引次数

5

摘要： 多囊卵巢综合征（PCOS）是常见的、复杂的生殖内分泌异常和代谢紊乱性疾病，具有高雄激素血症、稀发排卵或无排卵、胰岛素抵抗以及卵巢多囊样改变的特征，全球发病率约6%～12%，是无排卵性不孕的主要原因。其遗传特性已被证明，但参与其发病的基因尚未完全阐明。目前PCOS易感基因主要有雄激素相关基因、糖代谢相关基因和脂肪代谢相关基因等。但由于PCOS的异质性，尚无明确公认的致病基因，较为肯定的是PCOS是环境和诸多因素共同作用的结果。PCOS基因多态性的研究方法主要有传递不平衡检验、候选基因分析研究和全基因组关联研究（GWAS），特别是GWAS被称作PCOS致病基因研究中的“重大事件”。

关键词: 多囊卵巢综合征, 基因, 多态现象, 遗传, 雄激素增多症, 胰岛素

Abstract: Polycystic ovary syndrome（PCOS） is a common, complex endocrine/metabolic disease characterized by hyperandrogenism, ovulatory dysfunction, insulin resistance and polycystic ovaries. PCOS occurs in approximately 4%-12% women of reproductive age, and is the leading reason for anovulatory infertility. It has been proven to be a familial inheritance; however, genes that may be involved in the etiology of PCOS have not been fully investigated. Up to date, the susceptible genes are mainly related to the androgen, insulin resistance and fat metabolic. Because of the heterogeneity of the syndrome, we still have no idea of a definite pathogenic gene. It is thought that PCOS is the concomitant result of many genes and environmental factors. Currently，the research methods of PCOS include the transmission disequilibrium tests，the candidate gene study and the genome-wide association study（GWAS）. Especially the GWAS, which was said to achieve a major milestone.

Key words: Polycystic ovary syndrome, Genes, Polymorphism, Genetic, Hyperandrogenism, Insulin