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目的:探讨血管紧张素转换酶(ACE)基因插入/缺失(I/D)多态性、血管紧张素Ⅱ受体Ⅰ(AT1R)基因A1166C多态性和内皮细胞一氧化氮合成酶(eNOS)基因G894T多态性与重度子痫前期发病的关系。方法:应用荧光定量PCR、DNA测序技术检测50例重度子痫前期患者(病例组)与100例正常妊娠妇女(对照组)ACE、AT1R、eNOS基因多态性。结果:病例组ACE基因ID基因型频率(32.0%)显著低于对照组(57.0%,P<0.01),DD基因型频率(40.0%)显著高于对照组(20.0%,P<0.01);病例组AT1R基因AA基因型频率(78.0%)显著低于对照组(94.0%,P<0.01),AC基因型频率(22.0%)显著高于对照组(5.0%,P<0.01);相对于AA基因型,携带AC基因型者的OR值为5.303,病例组C等位基因频率(11.0%)显著高于对照组(3.5%,P<0.05),相对于A等位基因,携带C等位基因者OR值为3.408;两组eNOS基因各基因型与等位基因频率差异无统计学意义;联合基因型无统计学意义。结论:ACE基因I/D多态性和AT1R基因A1166C多态性与重度子痫前期的发病有关,未发现eNOS基因G894T多态性与重度子痫前期的发病有关,未发现基因间有协同作用。
Objective: To investigate the polymorphisms of angiotensin converting enzyme (ACE) gene insertions / deletions (I / D), A1166C polymorphism of angiotensin Ⅱ receptor Ⅰ (AT1R) gene and endothelial nitric oxide synthase (eNOS) Relationship between gene G894T polymorphism and severe preeclampsia. Methods: The ACE, AT1R and eNOS gene polymorphism in 50 patients with severe preeclampsia (case group) and 100 normal pregnant women (control group) were detected by fluorescence quantitative PCR and DNA sequencing. Results: The ID genotype frequency (32.0%) of ACE gene in case group was significantly lower than that in control group (57.0%, P <0.01). The frequency of DD genotype (40.0%) was significantly higher than that in control group (20.0%, P <0.01). The frequency of genotype AA of AT1R gene was significantly lower in case group than that in control group (94.0%, P <0.01). The frequency of AC genotype (22.0%) was significantly higher than that in control group (5.0%, P <0.01) AA genotype and AC genotype were 5.303. The frequency of allele C in case group (11.0%) was significantly higher than that of control group (3.5%, P <0.05), and C allele The odds ratio (OR) of the allele was 3.408. There was no significant difference in the frequencies of alleles and genotypes between the two groups of eNOS genes. The combined genotype had no statistical significance. CONCLUSION: ACE gene I / D polymorphism and AT1R gene A1166C polymorphism are associated with the development of severe preeclampsia. No association was found between the G894T polymorphism of eNOS gene and severe preeclampsia. No synergistic effect was found .