p22-phox 基因（CYBA）的 C242T 多态性与巴西高血压患者的左心室质量增加有关。
The C242T polymorphism of the p22-phox gene (CYBA) is associated with higher left ventricular mass in Brazilian hypertensive patients.
机构信息
Department of Internal Medicine, University of Campinas, Campinas, Brazil.
出版信息
BMC Med Genet. 2011 Aug 31;12:114. doi: 10.1186/1471-2350-12-114.
BACKGROUND
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.
METHODS
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.
RESULTS
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).
CONCLUSIONS
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.
背景
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。
方法
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。
结果
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）。
结论
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。
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