ACE、AT_1R、eNOS基因多态性与重度子痫前期的相关性

Correlation between gene polymorphisms of ACE,AT_1R,eNOS and severe preeclampsia

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 explore the relationship between insertion/deletion（I/D） polymorphism of angiotensin converting enzyme （ACE） gene,A1166C polymorphism of angiotensin Ⅱ type 1 receptor （AT1R） gene and G894T polymorphism of endothelial nitric oxide synthase （eNOS） gene and severe preeclampsia.Methods：Fluorescence quantitative PCR and DNA sequencing were used to detect gene polymorphisms of ACE,AT1R and eNOS in 50 cases with severe preeclampsia （case group） and 100 normal pregnant women （control group）.Results：The frequency of ID genotype of ACE gene in case group （32.0%） was significantly lower than that in control group （57.0%） （P〈0.01）,the frequency of DD genotype of ACE gene in case group （40.0%） was significantly higher than that in control group （20.0%） （P〈0.01）; the frequency of AA genotype of AT1R gene in case group （78.0%） was significantly lower than that in control group （94.0%） （P〈0.01）,the frequency of AC genotype of AT1R gene in case group （22.0%） was significantly higher than that in control group （5.0%） （P〈0.01）; compared with AA genotype,the OR value of AC genotype was 5.303,the frequency of allele C in case group （11.0%） was significantly higher than that in control group （3.5%） （P〈0.05）; compared with allele A,the OR value of allele C was 3.408; there was no significant difference in frequencies of genotypes and alleles of eNOS gene between the two groups; there was no significant difference in combined genotype.Conclusion：I/D polymorphism of ACE gene and A1166C polymorphism of AT1R gene are related to occurrence of severe preeclampsia,the relationship between G894T polymorphism of eNOS gene and occurrence of severe preeclampsia is not found,no synergistic effect between genes is found.