Center for Reproductive Medicine, Shandong University, Jinan 250021, Shandong, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan 250021, Shandong, China; The Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Jinan 250021, Shandong, China; Suzhou Institute of Shandong University, Suzhou 215123, Jiangsu, China.
Center for Reproductive Medicine, Shandong University, Jinan 250021, Shandong, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan 250021, Shandong, China; The Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Jinan 250021, Shandong, China.
Trends Endocrinol Metab. 2018 Nov;29(11):795-807. doi: 10.1016/j.tem.2018.07.002. Epub 2018 Aug 2.
Premature ovarian insufficiency (POI) is highly heterogeneous in genetic etiology. Yet identifying causative genes has been challenging with candidate gene approaches. Recent approaches using next generation sequencing (NGS), especially whole exome sequencing (WES), in large POI pedigrees have identified new causatives and proposed relevant candidates, mainly enriched in DNA damage repair, homologous recombination, and meiosis. In the near future, NGS or whole genome sequencing will help better define genes involved in intricate regulatory networks. The research into miRNA and age at menopause represents an emerging field that will help unveil the molecular mechanisms underlying pathogenesis of POI. Shedding light on the genetic architecture is important in interpreting pathogenesis of POI, and will facilitate risk prediction for POI.
卵巢早衰（POI）在遗传病因学上具有高度异质性。然而，采用候选基因方法鉴定致病基因一直具有挑战性。最近在大型 POI 家系中使用下一代测序（NGS），特别是外显子组测序（WES）的方法，已经鉴定出了新的致病基因，并提出了相关候选基因，这些基因主要富集在 DNA 损伤修复、同源重组和减数分裂中。在不久的将来，NGS 或全基因组测序将有助于更好地定义参与复杂调控网络的基因。对 miRNA 和绝经年龄的研究代表了一个新兴领域，将有助于揭示 POI 发病机制的分子机制。阐明遗传结构对于解释 POI 的发病机制很重要，并将有助于预测 POI 的风险。
