Molecular genetic analysis of preeclampsia

先兆子痫有助于产妇和胎儿的发病率和死亡率。病因包括环境因素和遗传因素。在这项研究中，我们评估了先兆子痫与被认为是候选基因多态性之间的关系。分析的多态性为亚甲基四氢叶酸还原酶（MTHFR）基因677C/T、纤溶酶原激活物抑制剂-1 （PAI-1）基因4G/5G、内皮型一氧化氮合酶基因894G/T和-786T/C、血管紧张素原基因-6G/A、凝血因子V基因1691G/A和凝血酶原基因20210G/A。PAI-1基因4G等位基因的纯合子频率在患者中显著高于对照组孕妇（p=0.04）或健康志愿者（p=0.02）。患者的4G等位基因频率也明显高于对照组（p=0.03）和健康志愿者组（p=0.02）。子痫前期组T677等位基因型纯合子和T677等位基因型纯合子与对照组相比（p=0.02和p=0.03），与健康志愿者组相比（p=0.004和p=0.02）均显著增加。子痫前期和其他基因多态性之间没有关联。我们的结果提示PAI-1基因的4G等位基因和MTHFR基因的T677等位基因是子痫前期的遗传危险因素。

Preeclampsia contributes to maternal and fetal morbidity and mortality. Causal factors include environmental and inherited components. In this study, we assessed the association between preeclampsia and polymorphisms of the genes that are presumed to be candidate. The polymorphisms analyzed were the 677C/T of the methylenetetrahydrofolate reductase (MTHFR) gene, the 4G/5G of the plasminogen activator inhibitor-1 (PAI-1) gene, the 894G/T and -786T/C of the endothelial nitric oxide synthase gene, the -6G/A of the angiotensinogen gene, the 1691G/A of the blood coagulation factor V gene, and the 20210G/A of the prothrombin gene.The frequency of the homozygotes for the 4G allele of the PAI-1 gene was significantly higher in the patients than in the control pregnant women (p=0.04) or in the healthy volunteers (p=0.02). The 4G allele frequency was also significantly more frequent in the patients than in the control group (p=0.03) and the healthy volunteers group (p=0.02). The genotype homozygous for T677 allele and the T677 allele were significantly increased in the preeclamptic group compared with the control group (p=0.02 and p=0.03, respectively), and compared with the healthy volunteers group (p=0.004 and p=0.02, respectively). There were no associations between preeclampsia and the other gene polymorphisms.Our results suggest that the 4G allele of the PAI-1 gene and the T677 allele of the MTHFR gene are genetic risk factors for preeclampsia.