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子痫前期的遗传学研究方法

Genetic Approaches in Preeclampsia.

作者信息

Yong Hannah E J, Murthi Padma, Brennecke Shaun P, Moses Eric K

机构信息

Department of Maternal-Fetal Medicine Pregnancy Research Centre, The Royal Women's Hospital, Melbourne, VIC, Australia.

Department of Obstetrics and Gynaecology, The University of Melbourne, Melbourne, VIC, Australia.

出版信息

Methods Mol Biol. 2018;1710:53-72. doi: 10.1007/978-1-4939-7498-6_5.

Abstract

Preeclampsia (PE) is a serious hypertensive disorder that affects up to 8% of all pregnancies annually. An established risk factor for PE is family history, clearly demonstrating an underlying genetic component to the disorder. To date, numerous genetic studies, using both the candidate gene and genome-wide approach, have been undertaken to tease out the genetic basis of PE and understand its origins. Such studies have identified some promising candidate genes such as STOX1 and ACVR2A. Nevertheless, researchers face ongoing challenges of replicating these genetic associations in different populations and performing the functional validation of identified genetic variants to determine their causality in the disorder. This chapter will review the genetic approaches used in the study of PE, discuss their limitations and possible confounders, and describe current strategies.

摘要

子痫前期(PE)是一种严重的高血压疾病,每年影响多达8%的妊娠。PE的一个既定风险因素是家族史,这清楚地表明该疾病存在潜在的遗传成分。迄今为止,已经开展了大量使用候选基因和全基因组方法的遗传研究,以梳理出PE的遗传基础并了解其起源。这些研究已经确定了一些有前景的候选基因,如STOX1和ACVR2A。然而,研究人员在不同人群中复制这些遗传关联以及对已鉴定的遗传变异进行功能验证以确定它们在该疾病中的因果关系方面仍面临持续挑战。本章将回顾用于PE研究的遗传方法,讨论其局限性和可能的混杂因素,并描述当前的策略。

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