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子痫前期遗传学的最新进展。

An update on the genetics of pre-eclampsia.

作者信息

Agius Andee, Sultana Roberta, Camenzuli Christian, Calleja-Agius Jean, Balzan Rena

机构信息

Department of Physiology and Biochemistry, Faculty of Medicine and Surgery, University of Malta, Msida, Malta -

Department of Occupational Therapy, Saint Vincent de Paul Long-Term Care Facility, Luqa, Malta.

出版信息

Minerva Ginecol. 2018 Aug;70(4):465-479. doi: 10.23736/S0026-4784.17.04150-8. Epub 2017 Oct 9.

DOI:10.23736/S0026-4784.17.04150-8
PMID:28994563
Abstract

Pre-eclampsia is a progressive multisystem disorder that is exclusive to human pregnancy and defined as new hypertension presenting after 20 weeks with significant proteinuria. It is a multifactorial condition with a strong genetic component and several genes have been linked with this disorder. The main players implicated in the pathogenesis of pre-eclampsia include immune maladaptation, hemodynamics, endothelial function, thrombophilic disorders, oxidative stress and lipid metabolism. All of these mechanisms encompass genetic factors that might be responsible for the pathogenic changes taking place. Pre-eclampsia has been referred to as a primipaternity disease. A number of studies examined the contribution of paternal genes in pre-eclampsia. Although there is evidence that paternal genes significantly increase the risk of pre-eclampsia, there is still inconclusive evidence whether having the same partner is a protective factor. Gene expression, through imprinting and epistasis, also play an important role in the pathogenesis of this disorder. Pre-eclampsia remains a disease of theories. Despite the growing body of research exploring this complex disorder, the etiology of pre-eclampsia remains elusive and the struggle is still ongoing to find an effective predictive test that can detect this disorder at an early stage where intervention can prevent the progression of the disorder. Research is still ongoing. Prevention and early detection of pre-eclampsia remain the ultimate goal.

摘要

子痫前期是一种仅发生于人类妊娠的进行性多系统疾病,定义为妊娠20周后出现的新发高血压并伴有大量蛋白尿。它是一种多因素疾病,具有很强的遗传成分,已有多个基因与该疾病相关联。子痫前期发病机制中涉及的主要因素包括免疫适应不良、血流动力学、内皮功能、血栓形成倾向、氧化应激和脂质代谢。所有这些机制都包含可能导致发病变化的遗传因素。子痫前期被称为初父性疾病。许多研究探讨了父系基因在子痫前期中的作用。虽然有证据表明父系基因会显著增加子痫前期的风险,但关于拥有同一伴侣是否为保护因素仍存在不确定的证据。基因表达通过印记和上位作用在该疾病的发病机制中也起着重要作用。子痫前期仍然是一种理论性疾病。尽管探索这种复杂疾病的研究越来越多,但子痫前期的病因仍然难以捉摸,目前仍在努力寻找一种有效的预测性检测方法,以便在早期阶段就能检测出该疾病,从而通过干预防止疾病进展。相关研究仍在进行中。子痫前期的预防和早期检测仍然是最终目标。

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An update on the genetics of pre-eclampsia.子痫前期遗传学的最新进展。
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Pre-eclampsia--still a disease of theories.子痫前期——仍然是一种理论性疾病。
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Pre-eclampsia--still a disease of theories?子痫前期——仍然是一种理论性疾病?
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[Physiopathology of pre-eclampsia].
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