醛固酮合成酶基因-344T/C多态性与高血压患者血浆醛固酮及血管紧张素Ⅱ水平相关

目的探讨醛固酮合成酶基因（CYP11B2）-344T/C多态性与原发性高血压（EH）患者血浆肾素活性（PRA）以及血管紧张素Ⅱ（AngⅡ）、醛固酮（Aldo）水平的关系.方法用聚合酶链反应–限制性片段长度多态性（PCR-RFLP）法,检测421例EH患者和207例正常人CYP11B2的-344T/C基因型.用放射免疫法测328例EH患者基础PRA、血浆AngⅡ和Aldo浓度,其中279例患者同时测定激发PRA和血浆AngⅡ浓度.结果 EH与正常对照组间-344T/C多态性的基因型（P=0.61）和等位基因频率（P=0.34）差异无统计学意义.调整年龄、性别和体重指数后,328例EH患者中TT基因型者血浆Aldo浓度（213.5 pmol/L）显著高于TC （163.5 pmol/L）和CC（141.5 pmol/L）基因型者（P=0.02）. 而不同基因型间基础PRA（P=0.63）和血浆AngⅡ浓度（P=0.28）差异无统计学意义.激发时279例EH患者中CC基因型血浆AngⅡ浓度（81.9 pmol/L）显著高于TC （52.2 pmol/L）和TT（49.5 pmol/L）基因型（P=0.02）.结论 CYP11B2基因-344T/C多态性与EH患者血浆Aldo水平及激发血浆AngⅡ浓度显著相关.

Association of aldosterone synthase gene -344T/C polymorphism with plasma aldosterone and angiotensin II concentration in hypertensive patients

OBJECTIVE: To investigate the association of aldosterone synthase (CYP11B2) -344T/C polymorphism with plasma renin activity (PRA), and concentrations of angiotensin II (Ang II) and aldosterone (Aldo) in patients with essential hypertension (EH). METHODS: 421 EH patients, 296 males and 125 females, aged 56.3 +/- 11.2, and 207 sex and aged-matched normotensive subjects were genotyped for the CYP11B2 -344T/C polymorphism by polymerase chain reaction-restriction fragment length polymorphism. PRA and plasma Ang II and Aldo concentrations were measured by radioimmunoassay among 328 EH patients in the supine position and 279 of the 328 subjects in the upright position. RESULTS: No significant difference in genotype and allele frequencies of CYP11B2 -344T/C polymorphism was observed between the EH and normotensive subjects (P = 0.61 and P = 0.34 respectively). In the 328 EH patients undergoing measurement of PRA, Ang II, and Aldo, the plasma Aldo concentration of the TT subjects was 76.8 pg/ml, significantly higher than those of the TC subjects (58.8 pg/ml) and CC subjects (58.8 pg/ml, P = 0.02), after adjustment for age, sex and body mass index. No association was found between the -344T/C polymorphism and PRA and plasma Ang II in the supine position (P = 0.63 and P = 0.28 respectively). However, with similar adjustment applied, the plasma Ang II concentration in the upright position was higher in the CC subjects (85.7 pg/ml) than in the TC subjects (54.6 pg/ml) and TT subjects (51.8 pg/ml. P = 0.02). CONCLUSION: In the EH patients, CYP11B2 -344T/C polymorphism is associated with plasma Aldo and the plasma Ang II concentration when the patients are in the upright position.