Chen L, Zhang W, Fang C, Jiang S, Shu C, Cheng H, Li F, Li H
Department of Biochemistry and Molecular Biology, Basic Medical Science College, Harbin Medical University, Harbin, China.
J Int Med Res. 2011;39(5):1908-16. doi: 10.1177/147323001103900535.
Atrial fibrillation (AF) is one of the most common sustained cardiac arrhythmias and its prevalence is increasing worldwide in line with the growing elderly population. Many single nucleotide polymorphisms and mutations are associated with AF, including the common loss-of-function histidine-558-to-arginine (H558R) polymorphism of the human cardiac sodium channel, voltage-gated, type V, α subunit (encoded by the SCN5A gene). The H558R polymorphism results from the T-C transition in the SCN5A gene. This study recruited 135 patients with AF and 296 healthy controls to scan for and perform targeted genotyping of the H558R polymorphism of the SCN5A gene. Logistic regression analysis showed that the TC and CC genotypes (i.e. genotypes that result in the R558 polymorphism) were significantly associated with an increased risk of developing AF. The R558 polymorphism conferred an odds ratio for AF of 3.451 (95% confidence interval 1.718, 6.931). In conclusion, this study provided evidence for the role of the H558R polymorphism of the SCN5A gene in increasing the susceptibility to AF.
心房颤动（AF）是最常见的持续性心律失常之一，随着全球老年人口的增加，其患病率也在上升。许多单核苷酸多态性和突变与AF相关，包括人类心脏钠通道电压门控V型α亚基（由SCN5A基因编码）常见的功能丧失性组氨酸558突变为精氨酸（H558R）多态性。H558R多态性是由SCN5A基因中的T-C转换导致的。本研究招募了135例AF患者和296名健康对照，以扫描并对SCN5A基因的H558R多态性进行靶向基因分型。逻辑回归分析表明，TC和CC基因型（即导致R558多态性的基因型）与发生AF的风险增加显著相关。R558多态性使AF的比值比为3.451（95%置信区间1.718, 6.931）。总之，本研究为SCN5A基因的H558R多态性在增加AF易感性中的作用提供了证据。
