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血管紧张素转换酶基因(插入/缺失)变异与妊娠期妇女子痫前期风险升高的关联。

Association of ACE*(Insertion/Deletion) Variant with the Elevated Risk of Preeclampsia Among Gestational Women.

作者信息

El Azab Eman Fawzy, Abd El-Kader Rabab Gad, Elhassan Thoraya Mohamed, Mohammed Ali Sameh A, Shaaban Esraa Ibrahim A, El-Eshmawy Mohamed Adel, Hamid Dina Abdel, El-Beltagy Nanis S, Salem Eman T, Elsaid Afaf M, Elsalahaty Mohamed I, Elshazli Rami M, Anber Nahla

机构信息

Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Jouf University, Al-Qurayyat, Saudi Arabia.

Biochemistry Department, Faculty of Science, Alexandria University, Alexandria, Egypt.

出版信息

Biochem Genet. 2024 Oct;62(5):3774-3802. doi: 10.1007/s10528-023-10620-5. Epub 2024 Jan 14.

Abstract

The renin-angiotensin-aldosterone system has an indispensable function in the uteroplacental circulation, placental growth, and blood pressure optimization. The angiotensin I converting enzyme (ACE) gene is a critical integrator for electrolyte balance, and water retention, along with inhibiting preeclampsia. The main goal of this pertaining study is to assess the contribution of ACE*(Ins/Del) variant with the susceptibility for preeclampsia with focus on the severity of the disease among gestational hypertensive women. This retrospective study included 225 participants [125 PE gestational women, and 100 normotensive healthy controls] matching with age, and geographical region. PE women classified into 82 early-onset PE women, accompanied with 43 late-onset PE women. Additionally, PE women categorized into 59 mild PE women, together with 66 severe PE women. The genotyping and characterization of ACE*(Ins/Del) variant were applied using the PCR technique. Our findings indicated higher frequency of the ACE*(Del/Del) genotype and ACE*(D allele) with elevated risk of preeclampsia compared to normotensive controls under recessive (OR = 2.09, and p-value = 0.007), and allelic (OR = 1.75, and p-value = 0.012) models. In addition, testing logistic regression revealed that the levels of endothelin-1 and malondialdehyde exposed significant difference for the ACE*(Del/Del) genotype among early-onset and late-onset PE women (p-value = 0.024, and 0.23, respectively). Furthermore, carriers of the ACE*(Del/Del) genotype observed statistically significant with lower sodium concentrations among severe PE women (p-value = 0.034). The ACE*(Del/Del) genotype and ACE*(D allele) were associated with increased risk preeclampsia among gestational women. Furthermore, early-onset PE and late-onset PE were correlated with endothelin-1 and malondialdehyde concentrations among Egyptian women.

摘要

肾素-血管紧张素-醛固酮系统在子宫胎盘循环、胎盘生长及血压优化方面具有不可或缺的作用。血管紧张素I转换酶(ACE)基因是电解质平衡、水潴留以及抑制先兆子痫的关键整合因子。本相关研究的主要目的是评估ACE*(插入/缺失)变异对先兆子痫易感性的影响,并重点关注妊娠高血压妇女中该疾病的严重程度。这项回顾性研究纳入了225名年龄和地理区域相匹配的参与者[125名患先兆子痫的妊娠妇女和100名血压正常的健康对照者]。患先兆子痫的妇女分为82名早发型先兆子痫妇女和43名晚发型先兆子痫妇女。此外,患先兆子痫的妇女分为59名轻度先兆子痫妇女和66名重度先兆子痫妇女。采用聚合酶链反应(PCR)技术对ACE*(插入/缺失)变异进行基因分型和特征分析。我们的研究结果表明,与血压正常的对照组相比,在隐性(比值比[OR]=2.09,P值=0.007)和等位基因(OR=1.75,P值=0.012)模型下,ACE*(缺失/缺失)基因型和ACE*(D等位基因)在先兆子痫风险升高时出现的频率更高。此外,逻辑回归分析显示,早发型和晚发型先兆子痫妇女中,内皮素-1和丙二醛水平在ACE*(缺失/缺失)基因型方面存在显著差异(P值分别为0.024和0.23)。此外,在重度先兆子痫妇女中,观察到ACE*(缺失/缺失)基因型携带者的钠浓度在统计学上显著降低(P值=0.034)。ACE*(缺失/缺失)基因型和ACE*(D等位基因)与妊娠妇女先兆子痫风险增加相关。此外,在埃及妇女中,早发型先兆子痫和晚发型先兆子痫与内皮素-1和丙二醛浓度相关。

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