Sookoian Silvia, Gianotti Tomas Fernández, González Claudio Daniel, Pirola Carlos Jose
Cardiología Molecular, Instituto de Investigaciones Medicas, A. Lanari, Facultad de Medicina, Universidad de Buenos Aires, Ciudad Autonoma de Buenos Aires, Argentina.
J Hypertens. 2007 Jan;25(1):5-13. doi: 10.1097/01.hjh.0000254372.88488.a9.
The CYP11B2 gene (CYP11B2) encoding aldosterone synthase has been associated with essential hypertension and some, but not all, studies have reported that the C-344T variant may influence the risk of the disease.
We performed a systematic review of the literature by means of a meta-analysis to evaluate the influence of the C-344T CYP11B2 polymorphism on arterial hypertension and intermediate phenotypes.
From 485 reports, we included 42 observational studies, case-control and cohort at baseline. Fixed and random effect models were used to pool data from individual studies.
From 19 heterogeneous studies including 5343 essential hypertensive and 5882 control subjects, we found a significant association between hypertension and the C-344T variant in fixed but not in random effect models [for homozygous CC: odds ratio (OR), 0.834; 95% confidence interval (CI), 0.760-0.914; P < 0.0001, n = 11 225]. Besides, homozygous CC subjects had lower plasma renin activity (D, -0.161; 95% CI, -0.279 to -0.043; P < 0.01, n = 1428) but no difference in plasma aldosterone levels (D, -0.006; 95% CI, -0.081 to 0.07; P = 0.88, n = 2872). Limiting the quantitative analysis of blood pressure to 13 studies including only untreated individuals, no significant association was found for systolic arterial blood pressure (D, 0.042; 95% CI, -0.057 to 0.141; P = 0.41, n = 1775) and diastolic arterial blood pressure (D, 0.026; 95% CI, -0.073 to 0.125; P = 0.61, n = 1775).
Homozygous individuals for the -344C CYP11B2 allele are at 17% lower risk of hypertension with respect to homozygous TT subjects.
编码醛固酮合酶的CYP11B2基因（CYP11B2）与原发性高血压相关，部分（而非全部）研究报告称C-344T变异可能影响该病风险。
我们通过荟萃分析对文献进行系统评价，以评估CYP11B2基因C-344T多态性对动脉高血压及中间表型的影响。
从485篇报告中，我们纳入了42项基线时的观察性研究、病例对照研究和队列研究。采用固定效应模型和随机效应模型汇总各研究数据。
在19项异质性研究（包括5343例原发性高血压患者和5882例对照者）中，我们发现固定效应模型而非随机效应模型中高血压与C-344T变异之间存在显著关联[纯合子CC：比值比（OR）为0.834；95%置信区间（CI）为0.760 - 0.914；P < 0.0001，n = 11225]。此外，纯合子CC受试者的血浆肾素活性较低（差值为-0.161；95% CI为-0.279至-0.043；P < 0.01，n = 1428），但血浆醛固酮水平无差异（差值为-0.006；95% CI为-0.081至0.07；P = 0.88，n = 2872）。将血压定量分析限制在仅包括未治疗个体的13项研究中，未发现收缩压（差值为0.042；95% CI为-0.057至0.141；P = 0.41，n = 1775）和舒张压（差值为0.026；95% CI为-0.073至0.125；P = 0.61，n = 1775）存在显著关联。
CYP11B2基因-344C等位基因的纯合子个体相较于纯合子TT个体患高血压的风险低17%。
