The Impact of PTPRK and ROS1 Polymorphisms on the Preeclampsia Risk in Han Chinese Women.

IF 1.9 4区医学 Q3 PERIPHERAL VASCULAR DISEASE

International Journal of Hypertension Pub Date : 2021-10-04 eCollection Date: 2021-01-01 DOI:10.1155/2021/3275081

Huihui Li, Xingyu Yan, Man Yang, Mei Liu, Shan Tian, Mengru Yu, Wei-Ping Li, Cong Zhang

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引用次数: 0

Abstract

Objective: Preeclampsia (PE) is a severe complication in pregnancy and a leading cause of maternal and infant mortality. However, the exact underlying etiology of PE remains unknown. Emerging evidence indicates that the cause of PE is associated with genetic factors. Therefore, the aim of this study is to identify susceptibility genes to PE.

Materials and methods: Human Exome BeadChip assays were conducted using 370 cases and 482 controls and 21 loci were discovered. A further independent set of 958 cases and 1007 controls were recruited for genotyping to determine whether the genes of interest ROS1 and PTPRK are associated with PE. Immunohistochemistry was used for localization. Both qPCR and Western blotting were utilized to investigate the levels of PTPRK in placentas of 20 PE and 20 normal pregnancies.

Results: The allele frequency of PTPRK rs3190930 differed significantly between PE and controls and was particularly significant in severe PE subgroup and early-onset PE subgroup. PTPRK is primarily localized in placental trophoblast cells. The mRNA and protein levels of PTPRK in PE were significantly higher than those in controls.

Conclusion: These results suggest that PTPRK appears to be a previously unrecognized susceptibility gene for PE in Han Chinese women, and its expression is also associated with PE, while ROS1 rs9489124 has no apparent correlation with PE risk.

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PTPRK和ROS1基因多态性对汉族女性子痫前期风险的影响

目的:先兆子痫(PE)是一种严重的妊娠并发症，是导致母婴死亡的主要原因。然而，PE的确切潜在病因尚不清楚。新出现的证据表明，PE的病因与遗传因素有关。因此，本研究的目的是确定PE的易感基因。材料和方法:370例病例和482例对照进行了人类外显子组BeadChip检测，共发现21个基因座。我们进一步招募了958例病例和1007名对照进行基因分型，以确定感兴趣的基因ROS1和PTPRK是否与PE相关。采用免疫组织化学进行定位。应用qPCR和Western blotting检测了20例PE和20例正常妊娠胎盘中PTPRK的水平。结果:PTPRK rs3190930等位基因频率在PE与对照组之间存在显著差异，在PE重症亚组和早发性PE亚组中尤为显著。PTPRK主要存在于胎盘滋养细胞中。PE组PTPRK mRNA和蛋白水平均显著高于对照组。结论:上述结果提示，PTPRK可能是汉族女性PE的一个未被认识的易感基因，其表达也与PE相关，而ROS1 rs9489124与PE风险无明显相关性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

International Journal of Hypertension Medicine-Internal Medicine

CiteScore

4.00

自引率

5.30%

发文量

期刊介绍： International Journal of Hypertension is a peer-reviewed, Open Access journal that provides a forum for clinicians and basic scientists interested in blood pressure regulation and pathophysiology, as well as treatment and prevention of hypertension. The journal publishes original research articles, review articles, and clinical studies on the etiology and risk factors of hypertension, with a special focus on vascular biology, epidemiology, pediatric hypertension, and hypertensive nephropathy.