Gürdöl Figen, Işbilen Elif, Yilmaz Hülya, Isbir Turgay, Dirican Ahmet
Department of Biochemistry, Istanbul Faculty of Medicine, Istanbul University, Capa 34093, Istanbul, Turkey.
Clin Chim Acta. 2004 Mar;341(1-2):127-31. doi: 10.1016/j.cccn.2003.11.010.
Plasma and tissue angiotensin-converting enzyme (ACE) activities are believed to be under genetic control. Increased ACE activity due to the deletion polymorphism of the ACE gene is associated with a wide variety of diseases that exhibit endothelial disturbances. Available reports suggest that the incidence of ACE gene deletion polymorphism associated with preeclampsia varies depending on the study population and geographic location. In this study, we examined the insertion/deletion genotype distribution and the activity of ACE in preeclamptic pregnants.
Ninety-five preeclamptic and 50 normotensive pregnant patients, both in their third trimester, as well as 39 healthy nonpregnant individuals were included in the study. Gene polymorphism was studied by the polymerase chain reaction followed by the agarose electrophoresis. Pearson's chi(2) test was used for the statistical evaluation of the allele frequency, and Student's t-test for the ACE activity.
The presence of D allele was found to be associated with preeclampsia (p<0.05, odds ratio=1.53; df=1; 95% CI=1.007-2.338). The influence of allelic distribution on the enzyme activity was observed in the preeclamptics bearing II genotype, who exhibited significantly lower activity of ACE than that of the patients with the other genotypes (p<0.05).
We found an association between the genotype II and low ACE activity in preeclamptic women and an association between D allele frequency and preeclampsia. Pregnancy alone did not have an effect on the ACE activity.
血浆和组织中的血管紧张素转换酶(ACE)活性被认为受基因控制。由于ACE基因缺失多态性导致的ACE活性增加与多种表现出内皮功能紊乱的疾病相关。现有报告表明,与先兆子痫相关的ACE基因缺失多态性的发生率因研究人群和地理位置而异。在本研究中,我们检测了先兆子痫孕妇的插入/缺失基因型分布及ACE活性。
本研究纳入了95例先兆子痫孕妇、50例孕晚期血压正常的孕妇以及39名健康非孕个体。采用聚合酶链反应及琼脂糖电泳研究基因多态性。采用Pearson卡方检验对等位基因频率进行统计学评估,采用Student t检验对ACE活性进行评估。
发现D等位基因的存在与先兆子痫相关(p<0.05,优势比=1.53;自由度=1;95%可信区间=1.007-2.338)。在携带II基因型的先兆子痫患者中观察到等位基因分布对酶活性的影响,这些患者的ACE活性显著低于其他基因型患者(p<0.05)。
我们发现先兆子痫女性中II基因型与低ACE活性相关,且D等位基因频率与先兆子痫相关。单纯妊娠对ACE活性无影响。