Division of Biomedical Sciences, Warwick Medical School, University of Warwick, Clinical Sciences Research Laboratories, University Hospitals Coventry and Warwickshire, Clifford Bridge Road, Coventry CV2 2DX, UK.
Br Med Bull. 2022 Sep 22;143(1):4-15. doi: 10.1093/bmb/ldac007.
Polycystic ovary syndrome (PCOS) is a common condition characterized by reproductive, hyperandrogenic and dysmetabolic features, and often becomes clinically manifest during adolescence, particularly with weight-gain.
Pubmed search.
PCOS is heritable and closely associates with obesity (based on data from both epidemiological and genetic studies). Furthermore, insulin resistance forms a central cornerstone of the pathogenesis of PCOS and mediates a close association between obesity and the severity of the phenotypic features of PCOS.
Our understanding of the pathogenesis of PCOS remains incomplete, especially regarding its missing heritability (with only a small fraction having been identified from the genome-wide association studies reported to date), and its developmental origins.
A challenge for the future is to explore a role for epigenetic modifications in the development of PCOS, and implications for the in utero environment and novel therapeutic opportunities.
多囊卵巢综合征(PCOS)是一种常见的疾病,其特征为生殖、高雄激素和代谢异常,并且通常在青春期表现出临床症状,尤其是体重增加。
Pubmed 搜索。
PCOS 具有遗传性,与肥胖密切相关(基于流行病学和遗传学研究的数据)。此外,胰岛素抵抗是 PCOS 发病机制的核心基石,介导肥胖与 PCOS 表型特征严重程度之间的密切关联。
我们对 PCOS 发病机制的理解仍然不完整,特别是其遗传缺失(迄今为止,仅从全基因组关联研究中鉴定出一小部分)及其发育起源。
未来的一个挑战是探索表观遗传修饰在 PCOS 发展中的作用,以及对宫内环境和新的治疗机会的影响。