Ferrán Albert, Alegret José María, Subirana Isaac, Aragonès Gerard, Lluis-Ganella Carla, Romero-Menor César, Planas Francesc, Joven Jorge, Elosua Roberto
Grupo de Investigación en Epidemiología y Genética Cardiovascular, IMIM (Institut Hospital del Mar d'Investigacions Mèdiques), Barcelona, Spain.
Sección de Cardiología, Hospital Universitari de Sant Joan, Grup de Recerca Cardiovascular, IISPV, Universitat Rovira i Virgili, Reus, Tarragona, Spain.
Rev Esp Cardiol (Engl Ed). 2014 Oct;67(10):822-9. doi: 10.1016/j.rec.2013.12.019. Epub 2014 May 20.
The objectives of this study were to analyze the association between two genetic variants (rs2200733 and rs7193343) in a Spanish population and the risk of developing atrial fibrillation, and to carry out a systematic review and meta-analysis of these associations.
We performed a case-control study involving 257 case patients with atrial fibrillation and 379 controls. The case patients were individuals who had donated samples to the Spanish National DNA Bank; the controls were participating in a population-based cross-sectional study. Genotyping was carried out using a TaqMan assay. We conducted a systematic literature search in which 2 independent reviewers extracted the necessary information. The study involved a meta-analysis, a heterogeneity analysis, and a meta-regression analysis to identify the variables that explain the heterogeneity across studies.
In our population, the presence of atrial fibrillation was found to be associated with rs2200733 (odds ratio = 1.87; 95% confidence interval, 1.30-2.70), but not with rs7193343 (odds ratio = 1.18; 95% confidence interval, 0.80-1.73). In the meta-analysis, we observed an association between atrial fibrillation and both variants: odds ratio = 1.71 (95% confidence interval, 1.54-1.90) for rs2200733 and odds ratio = 1.18 (95% confidence interval, 1.11-1.25) for rs7193343. We observed heterogeneity among the studies dealing with the association between rs2200733 and atrial fibrillation, partially related to the study design, and the strength of association was greater in case-control studies (odds ratio = 1.83) than in cohort studies (odds ratio = 1.41).
Variants rs2200733 and rs7193343 are associated with a higher risk of atrial fibrillation. Case-control studies tend to overestimate the strength of association between these genetic variants and atrial fibrillation.
本研究的目的是分析西班牙人群中两个基因变异（rs2200733和rs7193343）与房颤发生风险之间的关联，并对这些关联进行系统评价和荟萃分析。
我们进行了一项病例对照研究，纳入257例房颤病例患者和379例对照。病例患者是向西班牙国家DNA库捐赠样本的个体；对照来自一项基于人群的横断面研究。采用TaqMan分析法进行基因分型。我们进行了系统的文献检索，由2名独立的审阅者提取必要信息。该研究涉及荟萃分析、异质性分析和元回归分析，以确定解释各研究间异质性的变量。
在我们的人群中，发现房颤的存在与rs2200733相关（比值比=1.87；95%置信区间，1.30 - 2.70），但与rs7193343无关（比值比=1.18；95%置信区间，0.80 - 1.73）。在荟萃分析中，我们观察到房颤与这两个变异均有关联：rs2200733的比值比=1.71（95%置信区间，1.54 - 1.90），rs7193343的比值比=1.18（95%置信区间，1.11 - 1.25）。我们观察到在处理rs2200733与房颤关联的研究之间存在异质性，部分与研究设计有关，且病例对照研究中的关联强度（比值比=1.83）高于队列研究（比值比=1.41）。
rs2200733和rs7193343变异与较高的房颤风险相关。病例对照研究倾向于高估这些基因变异与房颤之间的关联强度。
