Department of Internal Medicine, University of Campinas, Campinas, Brazil.
BMC Med Genet. 2011 Aug 31;12:114. doi: 10.1186/1471-2350-12-114.
Reactive oxygen species have been implicated in the physiopathogenesis of hypertensive end-organ damage. This study investigated the impact of the C242T polymorphism of the p22-phox gene (CYBA) on left ventricular structure in Brazilian hypertensive subjects.
We cross-sectionally evaluated 561 patients from 2 independent centers [Campinas (n = 441) and Vitória (n = 120)] by clinical history, physical examination, anthropometry, analysis of metabolic and echocardiography parameters as well as p22-phox C242T polymorphism genotyping. In addition, NADPH-oxidase activity was quantified in peripheral mononuclear cells from a subgroup of Campinas sample.
Genotype frequencies in both samples were consistent with the Hardy- Weinberg equilibrium. Subjects with the T allele presented higher left ventricular mass/height2.7 than those carrying the CC genotype in Campinas (76.8 ± 1.6 vs 70.9 ± 1.4 g/m2.7; p = 0.009), and in Vitória (45.6 ± 1.9 vs 39.9 ± 1.4 g/m2.7; p = 0.023) samples. These results were confirmed by stepwise regression analyses adjusted for age, gender, blood pressure, metabolic variables and use of anti-hypertensive medications. In addition, increased NADPH-oxidase activity was detected in peripheral mononuclear cells from T allele carriers compared with CC genotype carriers (p = 0.03).
The T allele of the p22-phox C242T polymorphism is associated with higher left ventricular mass/height 2.7 and increased NADPH-oxidase activity in Brazilian hypertensive patients. These data suggest that genetic variation within NADPH-oxidase components may modulate left ventricular remodeling in subjects with systemic hypertension.
活性氧在高血压靶器官损伤的病理生理学中起作用。本研究调查了 p22-phox 基因（CYBA）C242T 多态性对巴西高血压患者左心室结构的影响。
我们通过临床病史、体格检查、人体测量学、代谢和超声心动图参数分析以及 p22-phox C242T 多态性基因分型，对来自 2 个独立中心（坎皮纳斯[441 例]和维多利亚[120 例]）的 561 例患者进行了横断面评估。此外，还对坎皮纳斯样本的亚组外周血单核细胞中的 NADPH 氧化酶活性进行了定量。
两个样本的基因型频率均符合 Hardy-Weinberg 平衡。在坎皮纳斯（76.8 ± 1.6 比 70.9 ± 1.4 g/m2.7；p = 0.009）和维多利亚（45.6 ± 1.9 比 39.9 ± 1.4 g/m2.7；p = 0.023）样本中，携带 T 等位基因的患者左心室质量/身高 2.7 较高。这些结果通过逐步回归分析得到了证实，分析中调整了年龄、性别、血压、代谢变量和抗高血压药物的使用。此外，与 CC 基因型携带者相比，T 等位基因携带者外周血单核细胞中的 NADPH 氧化酶活性增加（p = 0.03）。
p22-phox C242T 多态性的 T 等位基因与巴西高血压患者左心室质量/身高 2.7 较高和 NADPH 氧化酶活性增加相关。这些数据表明，NADPH 氧化酶成分的遗传变异可能调节高血压患者的左心室重构。
