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候选基因、全基因组关联和生物信息学研究在子痫前期中的应用:综述。

Candidate Gene, Genome-Wide Association and Bioinformatic Studies in Pre-eclampsia: a Review.

机构信息

Women's Health and HIV Research Group, Department of Obstetrics and Gynaecology, University of KwaZulu-Natal, P Bag 7, Congella, KwaZulu-Natal, 4013, South Africa.

Optics and Imaging Centre, University of KwaZulu-Natal, KwaZulu-Natal, South Africa.

出版信息

Curr Hypertens Rep. 2018 Aug 29;20(10):91. doi: 10.1007/s11906-018-0891-x.

DOI:10.1007/s11906-018-0891-x
PMID:30159611
Abstract

PURPOSE OF REVIEW

Regardless of the familial linkage reported in pre-eclampsia development, understanding the polymorphic genes associated with pre-eclampsia remains limited. Hence, this review aims to outline the main genetic factors that have been investigated in respect to pre-eclampsia development.

RECENT FINDINGS

It is apparent that different genes show significance in varying populations. Notably, it is reported that apolipoprotein-1 gene polymorphisms are associated with pre-eclampsia development in an African-American population, which may be worthwhile to investigate in a Black South African cohort. Despite the research attention that is focused on this surreptitious syndrome, a definitive cause eludes scientists and physicians, alike. Genetic studies can fulfil a dual purpose of suggesting novel hypotheses through genome-wide screening and testing these hypotheses via candidate gene studies. However, publications to date have only presented inconsistent and conflicting results regarding candidate gene analysis.

摘要

目的综述

尽管子痫前期发展中有家族关联性的报道,但对与子痫前期相关的多态性基因的了解仍然有限。因此,本综述旨在概述主要遗传因子与子痫前期发展的关系。

最近的发现

不同基因在不同人群中的作用显著,这是显而易见的。值得注意的是,有报道称载脂蛋白-1 基因多态性与非裔美国人的子痫前期发展有关,这在南非黑人队列中值得进一步研究。尽管对这种隐匿性综合征的研究关注颇多,但科学家和医生都未能确定其确切病因。遗传研究可以通过全基因组筛查提出新的假说,并通过候选基因研究来检验这些假说,从而起到双重作用。然而,迄今为止的出版物在候选基因分析方面仅呈现出不一致和相互矛盾的结果。

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Biochemical investigation of FOXP3 genetic polymorphism and its association with biochemical parameters in pre-eclampsia patients.

本文引用的文献

1
The hypertensive disorders of pregnancy: ISSHP classification, diagnosis & management recommendations for international practice.妊娠期高血压疾病:国际妊娠高血压研究学会(ISSHP)国际实践分类、诊断及管理建议
Pregnancy Hypertens. 2018 Jul;13:291-310. doi: 10.1016/j.preghy.2018.05.004. Epub 2018 May 24.
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Association of gene polymorphisms of aldosterone synthase and angiotensin converting enzyme in pre-eclamptic South African Black women.南非黑人子痫前期女性中醛固酮合酶和血管紧张素转换酶基因多态性的关联
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Indications for delivery in pre-eclampsia.
子痫前期患者中FOXP3基因多态性的生化研究及其与生化参数的关联
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Polymorphisms in myeloperoxidase and tissue inhibitor of metalloproteinase-1 genes and their association with preeclampsia in the Chinese Han population.髓过氧化物酶和基质金属蛋白酶-1组织抑制剂基因多态性及其与中国汉族人群子痫前期的关联。
Heliyon. 2024 Aug 23;10(17):e36685. doi: 10.1016/j.heliyon.2024.e36685. eCollection 2024 Sep 15.
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Association of Gestational Hypertension with Sociodemographic and Anthropometric Factors, Perinatal Outcomes, Breastfeeding Practices, and Mediterranean Diet Adherence: A Cross-Sectional Study.妊娠期高血压与社会人口学和人体测量因素、围产期结局、母乳喂养实践和地中海饮食依从性的关联:一项横断面研究。
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Effect of the CYBA C242T Polymorphism on Preeclampsia Pathogenesis in the Chinese Population.CYBA C242T 多态性对中国人群子痫前期发病机制的影响。
Biochem Genet. 2024 Jun;62(3):1675-1689. doi: 10.1007/s10528-023-10440-7. Epub 2023 Sep 4.
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Effects of Pre-Pregnancy Overweight/Obesity on the Pattern of Association of Hypertension Susceptibility Genes with Preeclampsia.孕前超重/肥胖对高血压易感基因与子痫前期关联模式的影响。
Life (Basel). 2022 Dec 3;12(12):2018. doi: 10.3390/life12122018.
8
Pre-Existing Diabetes Mellitus, Hypertension and KidneyDisease as Risk Factors of Pre-Eclampsia: A Disease of Theories and Its Association with Genetic Polymorphism.前置糖尿病、高血压和肾脏疾病作为子痫前期的风险因素:一种理论疾病及其与遗传多态性的关联。
Int J Environ Res Public Health. 2022 Dec 12;19(24):16690. doi: 10.3390/ijerph192416690.
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Modeling placental development and disease using human pluripotent stem cells.利用人类多能干细胞进行胎盘发育和疾病建模。
Placenta. 2023 Sep 26;141:18-25. doi: 10.1016/j.placenta.2022.10.011. Epub 2022 Oct 31.
10
Genetic Variations in Metallothionein Genes and Susceptibility to Hypertensive Disorders of Pregnancy: A Case-Control Study.金属硫蛋白基因的遗传变异与妊娠期高血压疾病易感性:一项病例对照研究。
Front Genet. 2022 Jun 6;13:830446. doi: 10.3389/fgene.2022.830446. eCollection 2022.
子痫前期的分娩指征。
Pregnancy Hypertens. 2018 Jan;11:12-17. doi: 10.1016/j.preghy.2017.11.004. Epub 2017 Dec 8.
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Vitamin D pathway gene polymorphisms influenced vitamin D level among pregnant women.维生素 D 途径基因多态性影响孕妇的维生素 D 水平。
Clin Nutr. 2018 Dec;37(6 Pt A):2230-2237. doi: 10.1016/j.clnu.2017.10.024. Epub 2017 Nov 7.
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Hypertensive disorders of pregnancy and risk of neurodevelopmental disorders in the offspring: a systematic review and meta-analysis protocol.妊娠期高血压疾病与子代神经发育障碍风险:一项系统评价和Meta分析方案
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Early- and late-onset preeclampsia and the tissue-specific epigenome of the placenta and newborn.早发型和晚发型子痫前期与胎盘和新生儿组织特异性表观基因组
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7
Association of gene polymorphisms of four components of renin-angiotensin-aldosterone system and preeclampsia in South African black women.南非黑人女性肾素-血管紧张素-醛固酮系统四个组分的基因多态性与子痫前期的关联
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8
Serum levels of platelet endothelial cell adhesion molecule-1 (PECAM-1) and soluble vascular endothelial growth factor receptor (sVEGFR)-1 and -2 in HIV associated preeclampsia.人类免疫缺陷病毒相关子痫前期患者血清中血小板内皮细胞黏附分子-1(PECAM-1)及可溶性血管内皮生长因子受体(sVEGFR)-1和-2的水平
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BMC Genet. 2017 Jan 19;18(1):5. doi: 10.1186/s12863-016-0469-z.
10
Pro-Inflammatory Cytokine Levels in HIV Infected and Uninfected Pregnant Women with and without Preeclampsia.患与未患先兆子痫的感染与未感染HIV的孕妇体内促炎细胞因子水平
PLoS One. 2017 Jan 17;12(1):e0170063. doi: 10.1371/journal.pone.0170063. eCollection 2017.