Czarnecka D, Kawecka-Jaszcz K, Stolarz K, Olszanecka A, Dembińska-Kieć A, Kieć-Wilk B
First Cardiac Department, Medical College, Jagiellonian University, Cracow, Poland.
J Hum Hypertens. 2005 May;19(5):413-20. doi: 10.1038/sj.jhh.1001837.
Reduced nitric oxide production is associated with pathological changes in the cardiovascular system. In a study of randomly chosen families, we analysed the relationship between two polymorphisms (Glu298Asp and intron 4) of the endothelial nitric oxide synthase (eNOS) and ambulatory blood pressure (ABP), left ventricular mass index (LVMI) and vascular phenotypes. The study population consisted of 127 parents and 167 offspring. All subjects underwent 24 h ABP monitoring using a SpaceLabs 90207 device. 2D and M-mode echocardiograms were obtained. Pulse wave velocity between the common carotid and femoral artery was measured with the Complior device, and the carotid intima-media thickness (IMT) was assessed by ultrasound. For statistical analysis, covariables and correlations between relatives were taken into account. The frequency of genotypes was as follows: for Glu298Asp: 55.1%-Glu/Glu, 40.1%-Glu/Asp and 4.8%-Asp/Asp; for intron 4: 65.0%-4 b/b, 33.3%-4 b/a and 1.7%-4 a/a, being in Hardy-Weinberg equilibrium (P > or = 0.29). There was no relationship between the eNOS gene polymorphisms and ABP or LVMI either in parents or their offspring. Among parents, carriers of the 298Asp allele had higher IMT values as compared with Glu/Glu homozygotes (0.94 vs 0.70 mm; P = 0.007). Among offspring, there was a similar tendency (0.60 vs 0.53 mm; P = 0.10), which was confirmed by transmission disequilibrium tests for quantitative variables (P > or = 0.07). Our findings indicate that the Glu298Asp polymorphism of eNOS identifies patients with larger carotid IMT, also in younger subjects.
一氧化氮生成减少与心血管系统的病理变化相关。在一项对随机选取家庭的研究中，我们分析了内皮型一氧化氮合酶（eNOS）的两种多态性（Glu298Asp和内含子4）与动态血压（ABP）、左心室质量指数（LVMI）及血管表型之间的关系。研究人群包括127名父母和167名后代。所有受试者均使用太空实验室90207设备进行24小时ABP监测。获取二维和M型超声心动图。使用Complior设备测量颈总动脉和股动脉之间的脉搏波速度，并通过超声评估颈动脉内膜中层厚度（IMT）。进行统计分析时考虑了协变量及亲属之间的相关性。基因型频率如下：对于Glu298Asp：55.1%为Glu/Glu、40.1%为Glu/Asp、4.8%为Asp/Asp；对于内含子4：65.0%为4 b/b、33.3%为4 b/a、1.7%为4 a/a，处于哈迪-温伯格平衡（P≥0.29）。eNOS基因多态性与父母及其后代的ABP或LVMI均无关联。在父母中，与Glu/Glu纯合子相比，298Asp等位基因携带者的IMT值更高（0.94对0.70毫米；P = 0.007）。在后代中也有类似趋势（0.60对0.53毫米；P = 0.10），定量变量的传递不平衡检验证实了这一点（P≥0.07）。我们的研究结果表明，eNOS的Glu298Asp多态性可识别出颈动脉IMT更大的患者，在较年轻的受试者中也是如此。
