Sookoian S, Gianotti T F, Pirola C J
Departamento de Genética y Biología Molecular de Enfermedades Complejas, Instituto de Investigaciones Medicas, A Lanari, Universidad de Buenos Aires, CONICET, Ciudad Autónoma de Buenos Aires, Argentina.
Heart. 2008 Jul;94(7):903-10. doi: 10.1136/hrt.2007.119545. Epub 2007 Aug 13.
We performed a systematic review of the literature by means of a meta-analysis to evaluate the influence of the aldosterone synthase gene (CYP11B2) C-344T polymorphism on left ventricular mass (LVM) and related phenotypes.
From 485 reports, we included 14 studies about the association between the C-344T variant and left ventricular mass and left ventricular structure-related phenotypes, from which information about number of subjects in each category, outcomes data and genotyping performed with a validated molecular method could be extracted. Fixed and random effect models were used to pool data from individual studies, and the results in the abstract show the extreme genotype comparison, homozygous TT vs homozygous CC.
From a total of 2157 subjects, we found no significant association between LVM and the C-344T variant (D: 0.049, 95% CI: 0.091 to 0.179, p = 0.462). Similarly, no significant association was found for interventricular septal-wall thickness (D: 0.027, 95% CI: -0.090 to 0.143, p = 0.654, n: 2105). However, homozygous TT hypertensive subjects had increased LVM (D: 0.251, 95% CI: 0.020 to 0.481, p = 0.04, n: 332). Lastly, in 10 homogeneous studies posterior wall thickness (PWT) was lower in homozygous CC individuals (D: 0.142, 95% CI: 0.016 to 0.268, p = 0.028, n = 1994).
Independently of hypertension, homozygous individuals for the -344T allele may have 2.4% higher PWT compared to homozygous subjects for the C-344 allele. Besides, homozygous hypertensive TT subjects show a 6.9% increase in LVM compared to CC homozygous subjects.
我们通过荟萃分析对文献进行了系统评价，以评估醛固酮合酶基因（CYP11B2）C-344T多态性对左心室质量（LVM）及相关表型的影响。
从485篇报告中，我们纳入了14项关于C-344T变异与左心室质量及左心室结构相关表型之间关联的研究，从中可以提取各类别的受试者数量、结果数据以及采用经过验证的分子方法进行基因分型的信息。采用固定效应模型和随机效应模型汇总个体研究的数据，摘要中的结果显示的是极端基因型比较，即纯合子TT与纯合子CC的比较。
在总共2157名受试者中，我们发现LVM与C-344T变异之间无显著关联（差值：0.049，95%置信区间：0.091至0.179，p = 0.462）。同样，在室间隔厚度方面也未发现显著关联（差值：0.027，95%置信区间：-0.090至0.143，p = 0.654，n = 2105）。然而，纯合子TT高血压受试者的LVM增加（差值：0.251，95%置信区间：0.020至0.481，p = 0.04，n = 332）。最后，在10项同类研究中，纯合子CC个体的后壁厚度（PWT）较低（差值：0.142，95%置信区间：0.016至0.268，p = 0.028，n = 1994）。
与C-344等位基因的纯合子受试者相比，-344T等位基因的纯合子个体在不考虑高血压因素的情况下，其PWT可能高2.4%。此外，纯合子高血压TT受试者的LVM比CC纯合子受试者高6.9%。
