单核苷酸多态性与多囊卵巢综合征发生发展的研究进展

Research progress of single nucleotide polymorphisms and risk of polycystic ovary syndrome

多囊卵巢综合征(PCOS)是女性一种常见的异质性、复杂性和多基因性疾病,其临床特征为高雄激素血症、胰岛素抵抗、肥胖和稀发/无排卵等。PCOS病因及发病机制尚未阐明,主要涉及遗传、环境、精神及心理因素等。目前,越来越多的研究表明,遗传因素在PCOS发生发展中占据重要作用。单核苷酸多态性(SNP)是由单个碱基的转换、颠换、插入或缺失引起的单个核苷酸变异形成的脱氧核糖核酸序列多态性。因此,研究PCOS的易感性基因对未来阐明该病的病因和发病机制具有重要意义。本文综述近年来基因多态性与PCOS发生发展关系的最新研究成果,主要从雄激素的生物合成、结合和转化,胰岛素抵抗,脂代谢和炎症等相关易感基因位点上的SNP,如rs743572、rs35785886、rs2414096、rs2059807、rs9939609、rs361525、rs2275913等进行论述,以期为PCOS的病因、病理机制研究及精准防治提供新思路。

Polycystic ovary syndrome(PCOS)is a common heterogeneous,complex and polygenic disease in women,characterized by hyperandrogenemia,insulin resistance,obesity and sporadic/anovulation.The etiology and pathogenesis of PCOS have not been elucidated,but mainly involving genetic,environmental,psychiatric and psychological factors.Currently,an increasing number of studies suggest that genetic factors play an important role in the occurrence and development of PCOS.Single nucleotide polymorphisms(SNP)are DNA sequence polymorphisms formed by single nucleotide variants caused by single base conversions,reversals,insertions or deletions.Therefore,the study of susceptibility genes in PCOS is important for the future elucidation of the etiology and pathogenesis of the disease.To review the recent research results on the relationship between gene polymorphisms and the development of PCOS in recent years,we mainly focus on SNP at susceptibility loci related to androgen biosynthesis,binding and conversion,insulin resistance,lipid metabolism and inflammation,such as rs743572,rs35785886,rs2414096,rs2059807,rs9939609,rs361525 and rs2275913 etc.are discussed in order to provide new ideas for the study of the etiology and pathogenesis of PCOS and its precise prevention and treatment.