Department of Cardiology, Xi 'an International Medical Center Hospital, Xi 'an, Shaanxi.
Department of Cardiology, Qinghai Provincial People's Hospital.
Medicine (Baltimore). 2021 Mar 26;100(12):e25229. doi: 10.1097/MD.0000000000025229.
This study aimed to explore the relationship between H558R polymorphism of the SCN5A gene and atrial fibrillation (AF) in Tibetan and Han nationalities at high altitude.A total of 50 Tibetan and 50 Han patients with AF at the same altitude (2260 m) were included. Meanwhile, the general clinical data of patients without AF (50 Tibetan and 50 Han) matched with the data of patients with AF were included during the same period. The blood samples of patients were collected to extract DNA. The DNA sequencing was performed by Xi'an Zhenpin Biotechnology Co., Ltd. The mutation loci of the sequence were located and identified by DNA sequencing. The general information, laboratory examination, color Doppler echocardiography, and genotypes and alleles of each group were analyzed. The multivariate logistic regression analysis was used to determine the independent risk factors for AF.The genotype and allele frequencies of the H558R locus of the SCN5A gene in the AF groups of Tibetan and Han nationalities were significantly different from those in the non-AF groups (P < .05). The genotype and allele frequency of the H558R locus of the SCN5A gene in the AF group of Tibetan nationalities were not significantly different from those in the AF group of Han nationalities (P > .05). The logistic regression analysis of the total population revealed that coronary heart disease, age, total cholesterol (TC), left atrial diameter, and G allele were independent risk factors for AF occurrence.The occurrence of AF in Tibetan and Han nationalities at high altitude is associated with the polymorphism of H558R locus of the SCN5A gene. The G allele is an independent risk factor for the occurrence of AF in Tibetan and Han nationalities.
本研究旨在探讨高原地区藏族和汉族人群 SCN5A 基因 H558R 多态性与心房颤动（AF）的关系。共纳入海拔 2260m 处的 50 例藏族和 50 例汉族 AF 患者，同时纳入同期无 AF 的一般临床资料相匹配的藏族和汉族患者各 50 例。采集患者血液标本提取 DNA，由西安真朴生物技术有限公司进行 DNA 测序，通过 DNA 测序定位并鉴定序列突变位点。分析各组的一般资料、实验室检查、彩色多普勒超声心动图及基因型和等位基因。采用多因素 logistic 回归分析确定 AF 的独立危险因素。SCN5A 基因 H558R 位点的基因型和等位基因频率在藏族和汉族 AF 组与非 AF 组之间差异有统计学意义（P＜0.05）。SCN5A 基因 H558R 位点的基因型和等位基因频率在藏族 AF 组与汉族 AF 组之间差异无统计学意义（P＞0.05）。总人群的 logistic 回归分析显示，冠心病、年龄、总胆固醇（TC）、左心房直径和 G 等位基因是 AF 发生的独立危险因素。
高原地区藏族和汉族 AF 的发生与 SCN5A 基因 H558R 位点的多态性有关，G 等位基因是藏族和汉族 AF 发生的独立危险因素。
