Li Li, Shen Chao, Yao Zhaohui, Liang Jinjun, Huang Congxin
1 Department of Geriatrics, Renmin Hospital of Wuhan University , Wuhan, China .
2 College of Life Sciences, Wuhan University , Wuhan, China .
Genet Test Mol Biomarkers. 2015 Jul;19(7):359-65. doi: 10.1089/gtmb.2014.0307. Epub 2015 Jun 11.
Atrial fibrillation (AF) is a common type of cardiac arrhythmia and is a major healthcare burden. Around 20% of patients show no obvious clinical manifestations; this can lead to a delay of AF diagnosis and prevention. Genetic mutations are one of the important risk factors for AF. This study aimed to assess the associations between polymorphisms on KCNE1, KCNQ1, and KCNH2 with the risk of AF in a Chinese population.
A case-control study comprised of 438 AF patients and 450 controls. The tag single-nucleotide polymorphisms (SNPs) were retrieved in the International HapMap database and Haploview software was used to capture all the polymorphisms on KCNE1, KCNQ1, and KCNH2. DNA was extracted from blood and polymerase chain reaction-based assays were used to genotype polymorphisms of the KCNE1, KCNQ1, and KCNH2 genes. Chi-square test and student t-tests were used to evaluate the differences in the clinical characteristics between AF cases and controls. Odds ratios (OR) and corresponding 95% confidence intervals (CIs) were calculated to assess the association between genetic variants of KCNQ1, KCNH2, KCNE1, and AF risk.
Among the nine tag SNPs, three were significantly associated with the risk of AF: the rs1805127G allele on KCNE1, and the rs2283228C and rs1057128A alleles on KCNQ1. In contrast, rs1805120T variant was correlated with lower risk of AF. However, the other five genetic variants (rs2237892, rs2237895, rs2237897, rs2070357, and rs2070356) showed no significant association with AF risk (all p>0.05).
Our study suggested that the rs1805127G allele of KCNE1, and the rs2283228C and rs1057128A alleles on KCNQ1 are risk factors for AF, while the rs1805120T allele on KCNH2 may serve as a protective factor for AF.
心房颤动（AF）是一种常见的心律失常类型，是一项重大的医疗负担。约20%的患者无明显临床表现，这可能导致AF诊断和预防的延迟。基因突变是AF的重要危险因素之一。本研究旨在评估中国人群中KCNE1、KCNQ1和KCNH2基因多态性与AF风险之间的关联。
一项病例对照研究，包括438例AF患者和450例对照。在国际人类基因组单体型图（HapMap）数据库中检索标签单核苷酸多态性（SNP），并使用Haploview软件获取KCNE1、KCNQ1和KCNH2基因上的所有多态性。从血液中提取DNA，采用基于聚合酶链反应的检测方法对KCNE1、KCNQ1和KCNH2基因的多态性进行基因分型。采用卡方检验和学生t检验评估AF病例与对照之间临床特征的差异。计算比值比（OR）和相应的95%置信区间（CI），以评估KCNQ1、KCNH2、KCNE1基因变异与AF风险之间的关联。
在9个标签SNP中，3个与AF风险显著相关：KCNE1基因上的rs1805127G等位基因，以及KCNQ1基因上的rs2283228C和rs1057128A等位基因。相比之下，rs1805120T变异与较低的AF风险相关。然而，其他5个基因变异（rs2237892、rs2237895、rs2237897、rs2070357和rs2070356）与AF风险无显著关联（所有p>0.05）。
我们的研究表明，KCNE1基因的rs1805127G等位基因，以及KCNQ1基因上的rs2283228C和rs1057128A等位基因是AF的危险因素，而KCNH2基因上的rs1805120T等位基因可能是AF的保护因素。
