Czarnecka Danuta, Stolarz Katarzyna, Olszanecka Agnieszka, Kieć-Wilk Beata, Bodzioch Marek, Dembińska-Kieć Aldona, Kawecka-Jaszcz Kalina
I Klinika Kardiologii, Collegium Medicum Uniwersytetu Jagiellońskiego, Kraków.
Kardiol Pol. 2004 Sep;61 Suppl 2:II89-95.
Reduced nitric oxide (NO) production is associated with pathological changes in the cardiovascular system. In our study we analyzed the relationship between two polymorphisms (Glu298Asp and VNRT in the 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 hr ABP monitoring using a SpaceLabs 90207 device. 2D and M-mode echocardiograms were obtained. Pulse wave velocity (PWV) 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 co-variables and correlations between relatives were taken into account.
There was no relationship between the eNOS gene polymorphisms and ABP or LVMI neither in parents nor their offspring. Among parents, who were carriers of the 298Asp allele higher IMT values were noted as compared with Glu/Glu homozygotes (0.94 vs. 0.70 mm; p = 0.007). Among offspring there was a similar tendency towards higher IMT (0.60 vs. 0.53 mm; p = 0.10), but also higher PWV in carriers of the 298Asp allele as compared with Glu/Glu homozygotes (8.47 vs. 8.17 m/sec; p = 0.14). Polymorphism VNRT in intron 4 was not associated with vascular phenotypes.
The Glu298Asp polymorphism of eNOS gene identifies patients with larger carotid IMT.
一氧化氮（NO）生成减少与心血管系统的病理变化相关。在我们的研究中，我们分析了内皮型一氧化氮合酶（eNOS）的两个多态性（第4内含子中的Glu298Asp和VNRT）与动态血压（ABP）、左心室质量指数（LVMI）和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SpaceLabs 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（PWV），并通过超声评估颈动脉内膜中层厚度（IMT）。在统计分析中考虑了协变量和亲属之间的相关性。
eNOS基因多态性与父母及其后代的ABP或LVMI均无关系。在父母中，与Glu/Glu纯合子相比，携带298Asp等位基因的个体IMT值更高（0.94对0.70mm；p = 0.007）。在后代中，也有类似的趋势，即携带298Asp等位基因的个体IMT更高（0.60对0.53mm；p = 0.10），但与Glu/Glu纯合子相比，其PWV也更高（8.47对8.17m/秒；p = 0.14）。第4内含子中的多态性VNRT与血管表型无关。
eNOS基因的Glu298Asp多态性可识别出颈动脉IMT较大的患者。
