Journal
TRENDS IN ENDOCRINOLOGY AND METABOLISM
Volume 29, Issue 11, Pages 795-807Publisher
ELSEVIER SCIENCE LONDON
DOI: 10.1016/j.tem.2018.07.002
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Funding
- National Key Research and Developmental Program of China [2017YFC1001100, 2016YFC1000600]
- National Natural Science Foundation of China [81601245, 81522018, 81471509, 81771541]
- Natural Science Foundation of Jiangsu Province [BK20160372]
- Shandong Province [ZR2016HQ47]
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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.
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