Federal State Budgetary Institution "Research Institute of Pathology and Pathophysiology", 125315 Moscow, Russia.
City Clinical Hospital № 29 named after N.E. Bauman, 123001 Moscow, Russia.
Dis Markers. 2020 Dec 28;2020:8875230. doi: 10.1155/2020/8875230. eCollection 2020.
Preeclampsia (PE) and gestational diabetes mellitus (GDM) are the most common complications of pregnancy, which result in adverse outcomes for the mother and the fetus. GDM is regarded as a separate independent risk factor for PE development, as evidenced by a higher preeclampsia rate in gestational diabetes mellitus than in the general population. The role the endothelial cell dysfunction plays is considered to be the most reasonable one in the origin of these diseases. The activity of plasma and tissue angiotensin converting enzyme (ACE) is believed to be genetically controlled. The available data suggests that increased ACE activity due to deletion (D)/insertion (I) in the 16th intron of ACE gene, which is called ACE gene I/D polymorphism, is associated with preeclampsia and varies depending on the studied population and the geography. We did not find any literature data that estimates the influence of ACE gene I/D polymorphism on PE rate in pregnant women with GDM. Therefore, the present study aimed to investigate a relationship between ACE gene I/D polymorphism and preeclampsia development in the case of GDM in the Russian population. The study used the genomic DNA derived by phenol-chloroform extraction method from venous blood samples in 137 pregnant women, including samples of 74 women with GDM accompanied with PE and the blood samples of 63 women with GDM w/o preeclampsia. Genotyping of insertion/deletion in the I/D region (16 intron of АСЕ gene) was conducted by real-time PCR using the TaqMan competing probe technology. The particular features in the frequency array of alleles and genotypes of the ACE gen I/D polymorphism under review, as associated with preeclampsia development risk in pregnant women with GDM, were identified. The acquired data testify to the need to further study of ACE gene I/D region polymorphism association in a large patient sample taking into account the PE and GDM risk factors estimated in the clinical practice.
子痫前期 (PE) 和妊娠期糖尿病 (GDM) 是妊娠最常见的并发症，会对母婴产生不良后果。GDM 被认为是 PE 发展的独立危险因素，因为在 GDM 中，PE 的发生率高于一般人群。内皮细胞功能障碍被认为是这些疾病起源的最合理因素。血浆和组织血管紧张素转换酶 (ACE) 的活性被认为是受遗传控制的。现有数据表明，由于 ACE 基因 16 号内含子中的缺失 (D)/插入 (I) 导致 ACE 活性增加，即 ACE 基因 I/D 多态性与子痫前期有关，并且因研究人群和地理位置而异。我们没有找到任何文献数据来估计 ACE 基因 I/D 多态性对 GDM 孕妇 PE 发生率的影响。因此，本研究旨在调查俄罗斯人群 GDM 孕妇中 ACE 基因 I/D 多态性与子痫前期发展之间的关系。该研究使用酚氯仿提取法从 137 名孕妇的静脉血样本中提取基因组 DNA，包括 74 名 GDM 伴 PE 孕妇的样本和 63 名 GDM 无 PE 孕妇的样本。使用 TaqMan 竞争探针技术通过实时 PCR 对 I/D 区 (ACE 基因 16 号内含子) 的插入/缺失进行基因分型。确定了与 GDM 孕妇子痫前期发展风险相关的 ACE 基因 I/D 多态性等位基因和基因型频率数组的特定特征。所获得的数据证明需要进一步研究 ACE 基因 I/D 区多态性与大型患者样本的关联，同时考虑到临床实践中估计的 PE 和 GDM 风险因素。
