多囊卵巢综合征的遗传学研究进展

Research progress on genetics of polycystic ovary syndrome

多囊卵巢综合征(PCOS)是一种存在高度遗传异质性的复杂且常见的生殖内分泌代谢疾病,临床表现为月经失调、多毛、痤疮、卵巢多囊样改变等,同时可伴有肥胖、胰岛素抵抗(IR)、血脂紊乱等代谢异常。目前PCOS的病因及影响因素尚未完全阐明,相关遗传学研究十分重要,文章旨在通过基因组学中的候选基因分析及全基因组关联研究(GWAS)寻找PCOS致病基因,应用基因路径分析法探索基因作用及功能,通过表观基因组学如DNA甲基化、组蛋白修饰、非编码RNA调控探讨发病机制,了解微生物组学探索菌群结构变化与PCOS患者健康的关系等,以指导疾病预防、诊断,最终达到个性化的精准治疗。

Polycystic ovary syndrome(PCOS)is a complex and common reproductive endocrine metabolism disease with a high degree of genetic heterogeneity.The clinical manifestations include menstrual disorders,hirsutism,acne,and polycystic ovarian changes.It can also be accompanied by obesity,Insulin resistance(IR),dyslipidemia and other metabolic abnormalities.At present,the etiology and influencing factors of PCOS have not yet been fully clarified,and related genetic research is very important.The article aims to find the pathogenic genes of PCOS through candidate gene analysis in genomics and genome-wide association studies(GWAS),and to explore genes using gene pathway analysis Role and function,through epigenomics such as DNA methylation,histone modification,non-coding RNA regulation to explore pathogenesis,understand microbiome to explore the relationship between changes in flora structure and the health of PCOS patients,to guide disease prevention and diagnosis,And finally achieve personalized precision treatment.