Second Medical Department - Clinical Department of Cardiology and Angiology, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Physiol Res. 2009;58(6):785-792. doi: 10.33549/physiolres.931450. Epub 2008 Dec 17.
The aldosterone synthase gene (CYP11B2) is an important candidate gene region in essential hypertension. We therefore studied the association of -344T/C polymorphism of the CYP11B2 gene with the presence and severity of hypertension in a case-control study. We studied 369 individuals, of whom 213 were hypertensive patients (139 controlled hypertensive, 74 resistant hypertensive) and 156 were healthy normotensive subjects. The -344T/C polymorphism of the CYP11B2 gene was determined using polymerase chain reaction - restriction fragment length polymorphism analysis. The distribution of genotypes in normotensive controls and hypertensive subjects were: TT 25.6 vs. 31.9 %, TC 51.9 vs. 57.3 % and CC 22.4 vs. 10.8 %. The -344T/C variant was associated with hypertension. Subjects carrying the -344T allele had a greater risk of hypertension compared to those having C allele (chi(2)=5.89, p<0.05). The frequency of CC genotype was significantly lower in hypertensive patients than in normotensive controls (chi(2)=9.44, p<0.01). A stepwise logistic regression analysis confirmed these findings. We did not find an association of -344T/C variant with the resistance of hypertensive patients to combination therapy, but we observed an association of -344T/C polymorphism of aldosterone synthase gene with increased risk of hypertension. These results support a potential role of -344T/C CYP11B2 gene polymorphism in genetic predisposition to develop hypertension.
醛固酮合酶基因（CYP11B2）是原发性高血压的重要候选基因区域。因此，我们在一项病例对照研究中研究了 CYP11B2 基因-344T/C 多态性与高血压的存在和严重程度的关系。我们研究了 369 个人，其中 213 人是高血压患者（139 人控制良好的高血压，74 人耐药性高血压），156 人是健康的正常血压受试者。使用聚合酶链反应-限制性片段长度多态性分析确定 CYP11B2 基因的-344T/C 多态性。正常血压对照组和高血压患者的基因型分布为：TT 25.6%比 31.9%，TC 51.9%比 57.3%和 CC 22.4%比 10.8%。-344T/C 变体与高血压相关。与携带 C 等位基因的受试者相比，携带-344T 等位基因的受试者患高血压的风险更高（卡方=5.89，p<0.05）。高血压患者的 CC 基因型频率明显低于正常血压对照组（卡方=9.44，p<0.01）。逐步逻辑回归分析证实了这些发现。我们没有发现-344T/C 变体与高血压患者对联合治疗的耐药性之间的关联，但我们观察到醛固酮合酶基因-344T/C 多态性与高血压风险增加之间存在关联。这些结果支持-344T/C CYP11B2 基因多态性在遗传易感性方面对高血压的潜在作用。
