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首页> 外文期刊>Biochemical Genetics >The genetic aspects of pre-eclampsia: achievements and limitations.
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The genetic aspects of pre-eclampsia: achievements and limitations.

机译：先兆子痫的遗传方面：成就和局限。

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Pre-eclampsia, a life-threatening disease during pregnancy, is a leading cause of global maternal mortality. Although there is substantial evidence of a genetic background, the complexity of the processes involved and nature of the maternal-fetal phenomenon do not make the search for the causative genes easy. Recent retrospective studies on the subject suggest the heritable allelic variations, particularly the utero-placental renin-angiotensin system with defective placental vascular development, could become the cornerstone for the genetics of pre-eclampsia and hence might well be associated with such defective development. Moreover, the role of immune mechanisms (immune maladaptation) deserves not to be ignored. Large-scale studies entailing genomewide scanning, sib-pair linkage analysis, and family-based association studies with appropriate power to detect genes with a lower relative risk are necessary to understand the puzzle of the disease. Moreover, recently, the importance of epigenetic featuresand the effect of imprinted genes related to trophoblast growth as well as fetal development on hypertension in pregnancy have been highlighted. All these possibilities are intuitively attractive and are supported by some circumstantial evidence. Although the consistent tenor of a series of papers instill some confidence, we need meticulously designed larger-scale investigations including large numbers of affected women and their babies to provide the analytic stringency essential to study the polygenic multifactorial basis of pre-eclampsia.
机译：子痫前期是怀孕期间威胁生命的疾病，是全球孕产妇死亡的主要原因。尽管有充分的遗传背景证据，但所涉及过程的复杂性和母婴现象的性质并不容易寻找致病基因。最近对该主题的回顾性研究表明，可遗传的等位基因变异，尤其是胎盘血管发育缺陷的子宫-胎盘肾素-血管紧张素系统，可能成为先兆子痫遗传学的基石，因此很可能与这种缺陷发育有关。此外，免疫机制（免疫适应不良）的作用不容忽视。大规模研究需要全基因组扫描，同胞对连锁分析和基于家庭的关联研究，以适当的能力来检测相对危险性较低的基因，对于理解该疾病的谜题是必要的。此外，近来，已突出表观遗传学特征的重要性和与滋养细胞生长以及胎儿发育有关的印迹基因对妊娠高血压的影响。所有这些可能性在直观上都很有吸引力，并且得到了一些间接证据的支持。尽管一系列论文的一贯性让人们充满信心，但我们仍需精心设计大规模调查，包括大量受影响的妇女及其婴儿，以提供严格的分析严格性，以研究先兆子痫的多基因多因素基础。

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