Hu Zhen, Zou Deling
Department of Cardiology, ShengJing Hospital of China Medical University, Shenyang, China.
J Interv Card Electrophysiol. 2019 Apr;54(3):283-288. doi: 10.1007/s10840-018-0484-2. Epub 2018 Nov 17.
Genome-wide association studies have identified several single-nucleotide polymorphisms (SNPs) associated with atrial fibrillation (AF). The relationship between SNPs and the incidence of stroke, heart failure, and the recurrence rate of AF after cardioversion has been reported. This meta-analysis focuses on the genotype-phenotype associations in AF.
We searched PubMed/Medline and Embase for literature providing the phenotypic parameters and genotypes of RS10033464, RS13376333, RS2106261, RS2200733, and RS7193343. We selected literature published in English and reviewed the full text of included studies to perform a meta-analysis.
Fifteen papers, and 7034 patients with AF, were included. The mean risk gene frequency of the investigated variants was between 12 and 43%. The mean age of patients was between 50 and 70 and 70-80% of them were male. The stroke and heart failure frequencies in AF patients with RS2200733 were 10 and 7%, respectively. There was no significant difference in left ventricular ejection fraction and left ventricular end-diastolic diameter for all risk genotypes. For the AF recurrence after cardioversion treatment with direct current electric conversion, catheter ablation therapy, and anti-arrhythmic drugs. The early AF recurrence rate was 46% in RS10033464 and RS13376333 patients, and the late AF recurrence rate was 53% in RS2200733 patients.
Pooled analysis showed a significantly high prevalence of stroke (10%) in RS2200733 AF patients. AF patients with the studied SNPs had preserved left ventricular systolic function (i.e., ejection fraction greater than 50%). AF patients with RS10033464 presented larger left atrium diameter (44 mm (95% CI 42.02-45.98)) than those with other SNPs. The late AF recurrence rate was highest in RS2200733 patients (53% (95% CI 0.43-0.64)). This study aids our understanding of the existing genetic findings and the function-altering "strongest" SNPs.
全基因组关联研究已鉴定出多个与心房颤动（AF）相关的单核苷酸多态性（SNP）。SNP与中风、心力衰竭的发生率以及心律转复后AF复发率之间的关系已有报道。本荟萃分析聚焦于AF中的基因型-表型关联。
我们在PubMed/Medline和Embase中检索提供RS10033464、RS13376333、RS2106261、RS2200733和RS7193343的表型参数和基因型的文献。我们选择以英文发表的文献并审查纳入研究的全文以进行荟萃分析。
纳入了15篇论文和7034例AF患者。所研究变异的平均风险基因频率在12%至43%之间。患者的平均年龄在50至70岁之间，其中70 - 80%为男性。携带RS2200733的AF患者中风和心力衰竭发生率分别为10%和7%。所有风险基因型的左心室射血分数和左心室舒张末期直径无显著差异。对于直流电转复、导管消融治疗和抗心律失常药物进行心律转复治疗后的AF复发情况。携带RS10033464和RS13376333的患者AF早期复发率为46%，携带RS2200733的患者AF晚期复发率为53%。
汇总分析显示携带RS2200733的AF患者中风患病率显著较高（10%）。携带所研究SNP的AF患者左心室收缩功能保留（即射血分数大于50%）。携带RS10033464的AF患者左心房直径（44 mm（95%CI 42.02 - 45.98））大于携带其他SNP的患者。携带RS2200733的患者AF晚期复发率最高（53%（95%CI 0.43 - 0.64））。本研究有助于我们理解现有的遗传研究结果以及改变功能的“最强”SNP。
