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首页> 外文期刊>The journal of maternal-fetal & neonatal medicine >Variants of HSD11B2 gene in hypertensive disorders of pregnancy
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Variants of HSD11B2 gene in hypertensive disorders of pregnancy

机译:HSD11B2基因在怀孕高血压障碍中的变体

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Introduction: One of the hypotheses concerning the etiology of gestational hypertension (GH) and pre-eclampsia (PE) assumes that they develop as a result of placenta malfunctioning at the early stage of pregnancy. Placental dysfunction is also associated with the decreased activity of 11-hydroxysteroid dehydrogenase 2 (11-HSD2), which in normal pregnancy protects the fetus from the excess of maternal cortisol.Objective: The aim of the study was to analyze the sequence of HSD11B2, a gene that encodes 11-HSD2, searching for mutations and haplotypes associated with the increased risk of GH or PE. Those may serve as potential genetic markers of GH and PE.Methods: The study was performed in case-control structure and included pregnant women (in third trimester) diagnosed with: GH, PE or being normotensive (control group). The research comprised DNA sequencing of HSD11B2, followed by restriction analysis (PCR-RFLP). The linkage disequilibrium analysis and haplotype-based case-control analysis were performed.Results: Six sequence variations were observed. Four mutations were indicated in the coding region of HSD11B2 and the other two in 3-UTR. Two SNPs: c.468C>A and c.534G>A were found to be in total disequilibrium.Conclusions: High variability in HSD11B2 sequence was indicated in the study population, but the relevance of observed SNPs to GH or PE development was not confirmed.
机译:介绍:关于妊娠期高血压(GH)和预普利普什西亚(PE)的病因的假设之一假设它们在怀孕早期出现的胎盘发生故障而发展。胎盘功能障碍也与11-羟基甾醇脱氢酶2(11-HSD2)的活性降低有关,其在正常妊娠中,保护胎儿免受过量的母体皮质醇。作用:研究的目的是分析HSD11B2的序列,编码11-HSD2的基因,搜索与增加GH或PE的风险增加相关的突变和单倍型。那些可以作为GH和PE的潜在遗传标记。方法:该研究是在病例对照结构中进行的,包括诊断为GH,PE或正常染色的孕妇(第三个三个月)。该研究包括HSD11B2的DNA测序,其次是限制性分析(PCR-RFLP)。进行连锁不平衡分析和基于单倍型病例对照分析。结果:观察到六个序列变化。在3-UTR中的HSD11B2的编码区和另外两个中指示四个突变。发现两种SNP:C.468C> A和C.534G> A和C.534G> A和C.534G> A总量不平衡。结论:研究人群中的HSD11B2序列的高变异性,但观察到的SNP与GH或PE开发的相关性未得到证实。

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