Silva Vanessa Resende Souza, Soardi Fernanda Caroline, Tanaka Sarah Cristina Sato Vaz, da Silva-Grecco Roseane Lopes, Paschoini Marina Carvalho, Balarin Marly Aparecida Spadotto
Disciplina de Genética, Instituto de Ciências Biológicas e Naturais, Universidade Federal do Triângulo Mineiro, Praça Manoel Terra 330 Centro, 38015050, Uberaba, MG, Brazil.
Arch Gynecol Obstet. 2015 May;291(5):1029-35. doi: 10.1007/s00404-014-3503-2. Epub 2014 Oct 17.
Pre-eclampsia (PE) is a pregnancy-specific multisystemic syndrome characterized by high blood pressure and presence of protein in the urine. The pathogenesis of pre-eclampsia is poorly understood and many factors such as environment, genetic, and immunology may be involved in PE pathophysiology. Among the genetic factors, there is an association between pre-eclampsia and polymorphisms in some genes of different population samples, as vascular endothelial growth factor and interleukin 1 alpha. The vascular endothelial growth factor gene is highly polymorphic and acts as a regulator in endothelial cell proliferation and vascular permeability. The secretion of interleukin 1 alpha leads to a pro-inflammatory cascade, which leads to high levels of circulating cytokines. This high amount of cytokines corroborates to structural and functional alterations in endothelial cells. The aim of this study was to investigate the vascular endothelial growth factor (VEGF) G-634C and interleukin 1 alpha (IL1A) rs3783550 polymorphism in a specific Brazilian pre-eclampsia group.
The evaluation of the vascular endothelial growth factor polymorphism was performed by PCR-RFLP restriction enzyme BsmFI and the IL1A polymorphism by allele-specific PCR. Molecular investigation was carried out by fragment size analysis on agarose and/or polyacrylamide gels.
However, no relation between polymorphism VEGF G-634C and pre-eclampsia was observed, indicating that further investigations with a larger sampling and other polymorphisms are still required. On the other hand, the rs3783550 polymorphism in the interleukin 1 alpha gene is correlated to pre-eclampsia, indicating that women with the allele A have a higher probability of developing the disease.
Thus, the interleukin 1 alpha gene could be used as a therapeutic tool for the diagnosis, as well as for monitoring the patients.
子痫前期（PE）是一种特定于妊娠的多系统综合征，其特征为高血压和尿蛋白。子痫前期的发病机制尚不清楚，许多因素如环境、遗传和免疫学因素可能参与了子痫前期的病理生理过程。在遗传因素中，不同人群样本的一些基因（如血管内皮生长因子和白细胞介素1α）的多态性与子痫前期之间存在关联。血管内皮生长因子基因具有高度多态性，在内皮细胞增殖和血管通透性中起调节作用。白细胞介素1α的分泌导致促炎级联反应，进而导致循环细胞因子水平升高。大量的细胞因子证实了内皮细胞的结构和功能改变。本研究的目的是调查巴西特定子痫前期组中血管内皮生长因子（VEGF）G-634C和白细胞介素1α（IL1A）rs3783550多态性。
血管内皮生长因子多态性通过PCR-RFLP限制性内切酶BsmFI进行评估，IL1A多态性通过等位基因特异性PCR进行评估。分子研究通过琼脂糖和/或聚丙烯酰胺凝胶上的片段大小分析进行。
然而，未观察到VEGF G-634C多态性与子痫前期之间的关系，这表明仍需要进行更大样本量和其他多态性的进一步研究。另一方面，白细胞介素1α基因中的rs3783550多态性与子痫前期相关，这表明携带等位基因A的女性患该病的可能性更高。
因此，白细胞介素1α基因可作为诊断以及监测患者的治疗工具。
