Introduction: Genetic variations in the slow component of the delayed rectifier potassium channels (IKs) are reported to contribute to an increased susceptibility to arrhythmias. This study aims to investigate the frequency and the possible association of the rs2236609 polymorphism in the KCNE1 gene and the risk of atrial fibrillation (AF). Methods: This was a case-control study that recruited 100 patients suffering from AF (mean age 49.4 ± 15.1 years), and a control group of 95 healthy participants older than 55 years (mean age 59.8 ± 4.1 years) with no history of cardiovascular disease, hypertension, or diabetes. Genomic DNA was extracted from whole peripheral blood, and the desired fragment was amplified using polymerase chain reaction followed by restriction digestion with the NspI restriction enzyme. Results: The results showed a significant difference between the single-nucleotide polymorphism variations in AF patients and controls (p < 0.022). The risk of AF in the GG genotype was significantly decreased (odds ratio [OR] 0.42; 95% confidence interval [Cl] 0.23–0.79). The risk of AF in the GA (OR 2.12; 95% Cl 1.11–4.06) and AA (OR 2.28, 95% Cl 0.57–9.1) genotypes was significantly increased. The odds of developing AF according to A allele counting was significantly increased (OR 2.1; 95% Cl 1.2608–3.638; p = 0.0048). Conclusion: Our results showed a significant increase in AF risk in people carrying the A allele, while the G allele might be considered as a protective allele.

中文翻译：

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rs2236609 多态性与房颤风险易感性增加有关

简介：据报道，延迟整流钾通道 (IK) 的慢速成分的遗传变异导致对心律失常的易感性增加。本研究旨在调查 KCNE1 基因中 rs2236609 多态性与房颤 (AF) 风险的频率和可能关联。方法：这是一项病例对照研究，招募了 100 名 AF 患者（平均年龄 49.4 ± 15.1 岁）和一个由 95 名 55 岁以上（平均年龄 59.8 ± 4.1 岁）无心血管病史的健康参与者组成的对照组。疾病、高血压或糖尿病。从全外周血中提取基因组 DNA，使用聚合酶链反应扩增所需片段，然后用 NspI 限制酶进行限制性消化。结果：结果显示房颤患者和对照组的单核苷酸多态性变异存在显着差异（p < 0.022）。GG 基因型的 AF 风险显着降低（优势比 [OR] 0.42；95% 置信区间 [Cl] 0.23–0.79）。GA (OR 2.12; 95% Cl 1.11-4.06) 和 AA (OR 2.28, 95% Cl 0.57-9.1) 基因型的 AF 风险显着增加。根据 A 等位基因计数，发生 AF 的几率显着增加（OR 2.1；95% Cl 1.2608–3.638；p = 0.0048）。结论：我们的结果显示携带 A 等位基因的人 AF 风险显着增加，而 G 等位基因可能被视为保护性等位基因。GG 基因型的 AF 风险显着降低（优势比 [OR] 0.42；95% 置信区间 [Cl] 0.23–0.79）。GA (OR 2.12; 95% Cl 1.11-4.06) 和 AA (OR 2.28, 95% Cl 0.57-9.1) 基因型的 AF 风险显着增加。根据 A 等位基因计数，发生 AF 的几率显着增加（OR 2.1；95% Cl 1.2608–3.638；p = 0.0048）。结论：我们的结果显示携带 A 等位基因的人 AF 风险显着增加，而 G 等位基因可能被视为保护性等位基因。GG 基因型的 AF 风险显着降低（优势比 [OR] 0.42；95% 置信区间 [Cl] 0.23–0.79）。GA (OR 2.12; 95% Cl 1.11-4.06) 和 AA (OR 2.28, 95% Cl 0.57-9.1) 基因型的 AF 风险显着增加。根据 A 等位基因计数，发生 AF 的几率显着增加（OR 2.1；95% Cl 1.2608–3.638；p = 0.0048）。结论：我们的结果显示携带 A 等位基因的人 AF 风险显着增加，而 G 等位基因可能被视为保护性等位基因。