Lacolley P, Gautier S, Poirier O, Pannier B, Cambien F, Benetos A
INSERM U337, Broussais Hospital, Paris, France.
J Hypertens. 1998 Jan;16(1):31-5. doi: 10.1097/00004872-199816010-00006.
Genetic studies may help us to understand the mechanisms underlying the involvement of various neuro-humoral factors in the regulation of the mechanical properties of large arteries. We have shown previously that the angiotensin II type 1 receptor gene polymorphism was a strong determinant of aortic stiffness in hypertensives.
To assess the contribution of two polymorphisms of the endothelial nitric oxide synthase gene to aortic stiffness in normotensive and hypertensive subjects in the same cohort.
We studied 309 untreated hypertensive and 123 normotensive subjects. Aortic stiffness was evaluated by measuring the carotid-femoral pulse-wave velocity non-invasively. The endothelial nitric oxide synthase gene polymorphisms G10-T at intron 23 (GIN23T) and G298-T at exon 7 (Glu298Asp) were determined in each subject.
The distributions of genotypes and allele prevalences of the endothelial nitric-oxide synthase G10-T polymorphisms among hypertensive and normotensive subjects were similar. In contrast, the prevalence of the nitric oxide synthase 298G allele was higher in the hypertensive group than it was among normotensive subjects. We found no association of the endothelial nitric oxide synthase genotypes with blood pressure levels or pulse-wave velocity for either population.
The present results do not suggest that two common polymorphisms of the endothelial nitric oxide synthase gene are involved in the regulation of aortic stiffness in hypertensive and normotensive individuals. The higher prevalence of endothelial nitric oxide synthase 298G allele among hypertensives suggests that this gene is involved in essential hypertension but this observation needs further confirmation.
基因研究可能有助于我们理解各种神经体液因素参与大动脉力学特性调节的潜在机制。我们之前已经表明，1型血管紧张素II受体基因多态性是高血压患者主动脉僵硬度的一个重要决定因素。
评估同一队列中正常血压和高血压受试者内皮型一氧化氮合酶基因的两种多态性对主动脉僵硬度的影响。
我们研究了309例未经治疗的高血压患者和123例正常血压受试者。通过无创测量颈股脉搏波速度来评估主动脉僵硬度。测定每个受试者内皮型一氧化氮合酶基因第23内含子的G10-T（GIN23T）和第7外显子的G298-T（Glu298Asp）多态性。
高血压和正常血压受试者中内皮型一氧化氮合酶G10-T多态性的基因型分布和等位基因频率相似。相比之下，高血压组中一氧化氮合酶298G等位基因的频率高于正常血压受试者。我们发现这两个人群中内皮型一氧化氮合酶基因型与血压水平或脉搏波速度均无关联。
目前的结果并不表明内皮型一氧化氮合酶基因的两种常见多态性参与高血压和正常血压个体的主动脉僵硬度调节。高血压患者中内皮型一氧化氮合酶298G等位基因的较高频率表明该基因与原发性高血压有关，但这一观察结果需要进一步证实。
