eNOS基因和MTHFR基因多态性与子痫前期发病关系的研究

目的探讨内皮型一氧化氮合酶(eNOS)基因第7外显子G894T突变和N5,N10-亚甲基四氢叶酸还原酶(MTHFR)基因C677T突变与子痫前期的关系。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,对53例子痫前期患者(子痫前期组)和49例正常妊娠妇女(对照组)的eNOS基因G894T突变和MTHFR基因C677T突变进行检测。结果子痫前期组eNOS基因Glu/Glu、Glu/Asp、Asp/Asp基因型频率分别为71.7%、28.3%、0.0%;MTH-FR基因CC、CT、TT基因型频率分别为22.7%、39.6%、37.7%。对照组eNOS基因Glu/Glu、Glu/Asp、Asp/Asp基因型频率分别为83.7%、16.3%、0.0%;MTHFR基因CC、CT、TT基因型频率分别为20.4%、61.2%、18.4%。子痫前期患者TT基因型频率(37.7%)显著高于对照组(18.4%)(P<0.05),而CT基因型频率子痫前期组(39.6%)显著低于对照组(61.2%)(P<0.05),而eNOS基因型和等位基因频率两组比较差异均无显著性(P>0.05)。携带TT基因型个体发生子痫前期的风险增加2.69。结论eNOS基因G894T突变与子痫前期发病无关;MTHFR基因TT基因型能增加子痫前期的患病风险;eNOS基因和MTHFR基因在子痫前期发病中无协同作用。

Study on eNOS gene and MTHFR gene polymorphisms in preeclampsia

Objective:To investigate a potential association of the gene polymorphisms of endothelial nitric oxide synthase(eNOS) and methylenetetraphydrofolate reductase(MTHFR) gene with preeclampsia.Methods:The eNOS gene G894T and MTHFR gene C677T polymorphisms were determined by PCR-RFLP in 53 preeclampsia patients and 49 normal pregnant women.Odds ratios(OR) and 95%CI,using Miettinen methods,were obtained to evaluate the association between the polymorphisms and preeclampsia.Results:The frequencies of eNOS Glu/Glu,Glu/Asp and Asp/Asp genotypes were 71.7%,28.3% and 0.0% in preeclampsia group and 83.7%,16.3%,and 0.0% in normal control group,respectively(P>0.05).The frequencies of MTHFR C/C,C/T and T/T genotypes were 22.7%,39.6%,37.7% in preeclampsia group and 20.4%,61.2%,18.4% in normal control group,respectively(P<0.05).The frequency of the T/T genotype(37.7%) of MTHFR gene in preeclampsia group was markedly higher than those(18.4%) in normal control group(P<0.05),but the frequency C/T genotype(39.6%) of MTHFR gene in preeclampsia group was markedly lower than those(61.2%) in the contral group(P<0.05),and there were no differences in the alleles for eNOS gene and MTHFR gene in two groups(P>0.05).The individuals with T/T genotype was 2.69 times susceptible to preeclampsia than the normal controls.Conclusion:These data suggest that the eNOS G894T polymorphism is not associated with a significant increased risk of preeclampsia.The T/T genotype of the MTHFR gene may increase the risk of preeclampsia,but the eNOS and MTHFR gene do not appear to be implicated for developing preeclampsia.