Akash Muhammad Sajid Hamid, Victor Francis, Rehman Kanwal, Hussain Amjad, Shahid Mudassar, Shahzad Asif
Department of Pharmaceutical Chemistry, Government College University, Faisalabad, Pakistan.
Department of Pharmacy, The Women University, Multan, Pakistan.
Naunyn Schmiedebergs Arch Pharmacol. 2025 Apr;398(4):4583-4592. doi: 10.1007/s00210-024-03580-z. Epub 2024 Nov 7.
This study addresses the pivotal question of the association between FOXP3 gene polymorphism and pre-eclampsia (PE), employing the Tetra ARMS PCR method for analysis. PE, a multifaceted disorder marked by hypertension and organ dysfunction during pregnancy, led to an exploration of FOXP3 due to its integral role in immune regulation and its implication in various autoimmune and inflammatory disorders. The primary objective was to discern the relationship between FOXP3 gene polymorphism (rs2232365) and the risk of PE. Recruiting 200 PE patients and 100 healthy pregnant women as controls, genomic DNA was extracted from peripheral blood samples, and FOXP3 promoter region polymorphism was meticulously examined using the Tetra ARMS PCR method. The results revealed significant differences in FOXP3 gene polymorphism between PE patients and healthy controls. Specifically, certain alleles and genotypes were more frequent in PE patients, suggesting a potential genetic predisposition to this disorder. Our findings showed that rs2232365 A/G variant was found to be associated with PE under the overdominance model [OR=1.89, CI 95%= 0.99-3.60, P<0.05]. The heterozygous genotype (A/G) of FOXP3 (rs2232365) was associated with increasing the level of clinical and biochemical markers in mild and severe PE patients when compared to controls. Thus, the FOXP3 (rs2232365) A/G variant can be considered a substantial risk factor for PE.
本研究采用四引物扩增受阻突变体系聚合酶链反应（Tetra ARMS PCR）方法进行分析，探讨叉头框蛋白P3（FOXP3）基因多态性与子痫前期（PE）之间的关键关联问题。PE是一种复杂的病症，其特征为孕期高血压和器官功能障碍，鉴于FOXP3在免疫调节中不可或缺的作用及其与多种自身免疫性和炎症性疾病的关联，因而对其展开了探索。主要目的是识别FOXP3基因多态性（rs2232365）与PE风险之间的关系。研究招募了200例PE患者和100例健康孕妇作为对照，从外周血样本中提取基因组DNA，并使用Tetra ARMS PCR方法细致检测FOXP3启动子区域多态性。结果显示，PE患者与健康对照之间的FOXP3基因多态性存在显著差异。具体而言，某些等位基因和基因型在PE患者中更为常见，这表明该病症可能存在潜在的遗传易感性。我们的研究结果表明，在超显性模型下，rs2232365 A/G变异与PE相关[比值比（OR）=1.89，95%置信区间（CI）=0.99 - 3.60，P<0.05]。与对照组相比，FOXP3（rs2232365）的杂合基因型（A/G）与轻度和重度PE患者临床及生化指标水平升高相关。因此，FOXP3（rs2232365）A/G变异可被视为PE的一个重要风险因素。
