印迹基因STOX1在子痫前期中的研究进展

Research progress of imprinted genes STOX 1 in preeclampsia

子痫前期是一种严重的产科并发症,是导致围产期母儿死亡的主要原因,临床上缺乏有效的诊治方法,该病发病机制的核心是早期绒毛外滋养细胞的侵袭不良。基因组印迹与滋养细胞侵袭不良有关,是子痫前期未来研究的重要领域。STOX1是新近发现的一个子痫前期印迹基因,位于人类染色体10q22,参与调节绒毛外滋养细胞的多倍体化过程,其功能缺失所致的细胞滋养细胞间质侵入过浅和受限,在胎盘形成和子痫前期发病中具有重要作用。该文综述印迹基因STOX1与子痫前期关系的研究现状,探索疾病的表观遗传学发病机制,有助于疾病的临床防治。

Preeclampsia （PE） is a severe obstetrical complication. It is the leading cause of maternal and infant death during perinatal stage, but now we have no effective methods for its diagnoses and treatments. The key of PE pathogenesis is the shallow invasion of extravillous cytotrophoblasts in first trimester. Genomic imprinting has relation with the shallow invasion of extravillous cytotrophoblasts, so it will be the important investigative area for PE in future. STOX1 is a newly discovered imprinted gene of PE located on human chromosome 10q22. A defect in polyploidization preceding incomplete invasion of extravillus trophoblast caused by STOX1 dysfunction therefore seems to play an important role in the formation of the placenta and the pathogenesis of PE. We will review the research progress of imprinting genes STOXI in PE to explore its epigenetic pathogenesis and lay foundation for its clinic diagnoses and treatments.