Department of Genetics, Osmania University, Hyderabad, AP, India.
Scand J Immunol. 2013 Feb;77(2):104-8. doi: 10.1111/j.1365-3083.2012.02760.x.
Pre-eclampsia (PE) is a multifactorial pregnancy-specific vascular disorder characterized by hypertension and proteinuria and affects around 3-8% of pregnancies worldwide. Defective placentation during the early stage of pregnancy most likely in combination with maternal and environmental factors could lead to systemic inflammation, endothelial dysfunction and the manifestation of the clinical symptoms. Inadequate number of regulatory T cells (Tregs) or their functional deficiency is linked with infertility, miscarriage and PE. It is well identified that forkhead box P3 (Foxp3) gene is a master control gene for the development and function of Tregs that play an important role in the maintenance of self-tolerance and mediate maternal tolerance to the foetus. The main objective of this study was to assess the maternal susceptibility to PE with respect to a deletion mutation in exon-2 and -3279 C > A polymorphism (rs3761548) in the promoter region within the Foxp3 gene in a total of 282 PE patients and 215 normal pregnant women. The results showed that exon-2 deletion mutation is present in 1.06% of patients and none in the controls, indicating that it was not a common gene polymorphism associated with PE. With respect to rs3761548, the C allele frequency was observed to be higher in patients than in controls (49% versus 27%; OR = 2.81, P < 0.01). In conclusion, our results are suggestive of A allele to be protective against PE and C allele as predisposing in a dose-dependent manner in our population.
子痫前期（PE）是一种多因素的妊娠特异性血管疾病，其特征为高血压和蛋白尿，影响全球约 3-8%的妊娠。妊娠早期胎盘功能不全，很可能与母体和环境因素共同作用，导致全身炎症、内皮功能障碍和临床症状表现。调节性 T 细胞（Tregs）数量不足或功能缺陷与不孕、流产和 PE 有关。叉头框 P3（Foxp3）基因是 Tregs 发育和功能的主调控基因，其在维持自身耐受和介导母体对胎儿的耐受方面发挥重要作用，这一点已得到充分证实。本研究的主要目的是评估 Foxp3 基因启动子区域内exon-2 和-3279 C > A 多态性（rs3761548）对 282 例 PE 患者和 215 例正常孕妇的母体易感性。结果显示，exon-2 缺失突变在患者中的发生率为 1.06%，而在对照组中则不存在，提示其不是与 PE 相关的常见基因突变。至于 rs3761548，患者的 C 等位基因频率高于对照组（49%对 27%；OR=2.81，P<0.01）。总之，我们的结果提示 A 等位基因对 PE 有保护作用，而 C 等位基因则呈剂量依赖性易患 PE。
