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基因ACVR2A、AGTR1和RGS2的3'非翻译区多态性与子痫前期之间的关联。

Association between 3'UTR polymorphisms in genes ACVR2A, AGTR1 and RGS2 and preeclampsia.

作者信息

Mendelova Andrea, Holubekova Veronika, Grendar Marian, Zubor Pavol, Svecova Iveta, Loderer Dusan, Snahnicanova Zuzana, Biringer Kamil, Danko Jan, Lasabova Zora

机构信息

Division of Molecular Medicine, Biomedical Center Martin JFM CU, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia.

出版信息

Gen Physiol Biophys. 2018 Mar;37(2):185-192. doi: 10.4149/gpb_2017028.

Abstract

Preeclampsia (PE) is a pregnancy specific disease with several risk factors such as genetic polymorphisms, environmental and social factors participating in its development. The aim of this study was to investigate whether distribution of three putative regulatory SNPs rs13430086, rs5186, rs4606 in 3'UTR of genes ACVR2A, AGTR1 and RGS2, respectively, that have been associated with hypertension and regulation of trophoblast invasion differ between women with PE and control group. The associations of rs13430086, rs5186 and rs4606 with preeclampsia were tested in two groups - the group of 50 women with PE and the control group of 42 healthy pregnant women at term. DNA was isolated from blood samples and the determination of genotypes was performed using Real-Time PCR. Power analysis for the size of the cohort was performed and the results were analyzed using Fisher exact test. The AA genotype of ACVR2A rs13430086 was significantly associated with higher risk to preeclampsia compared with TT genotype (p = 0.026, OR: 5.39, 95%CI: 1.21-31.54). Results showed no association between genotypes and preeclampsia for polymorphisms rs5186, rs4606. Further studies are important in order to better understand the role of ACVR2A in the pathogenesis of PE.

摘要

子痫前期(PE)是一种妊娠特有的疾病,有多种风险因素参与其发生发展,如基因多态性、环境和社会因素等。本研究的目的是调查分别位于基因ACVR2A、AGTR1和RGS2的3'UTR区域的三个假定调控单核苷酸多态性(SNP)rs13430086、rs5186、rs4606的分布情况,这些SNP与高血压及滋养细胞侵袭的调控相关,在子痫前期患者和对照组女性中是否存在差异。在两组中测试了rs13430086、rs5186和rs4606与子痫前期的关联,一组为50名单纯性子痫前期患者,另一组为42名足月健康孕妇组成的对照组。从血样中提取DNA,并使用实时荧光定量PCR进行基因型测定。对队列规模进行了效能分析,并使用Fisher精确检验分析结果。与TT基因型相比,ACVR2A rs13430086的AA基因型与子痫前期的高风险显著相关(p = 0.026,OR:5.39,95%CI:1.21 - 31.54)。结果显示,rs5186、rs4606多态性的基因型与子痫前期之间无关联。为了更好地理解ACVR2A在子痫前期发病机制中的作用,进一步的研究很重要。

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