Zhang Nenghua, Lv Xiaochun, Cheng Xiaojuan, Wang Jiaqi, Liu Jinding, Shi Jie, Liu Jie, Hu Bo, Chen Deqing, Zhang Gengqian
Department of Clinical Laboratory and Pathology, Municipal Key-Innovative Discipline of Molecular Diagnostics, Jiaxing Hospital of Traditional Chinese Medicine, Jiaxing University, Jiaxing, Zhejiang 314001, P.R. China.
Department of Cardiovascular Medicine, Fenyang Hospital of Shanxi Province, Fenyang Hospital Affiliated to Shanxi Medical University, Fenyang, Shanxi 032200, P.R. China.
Exp Ther Med. 2021 Oct;22(4):1068. doi: 10.3892/etm.2021.10502. Epub 2021 Jul 28.
Associations between gene variations and sudden cardiac arrest or coronary artery disease have been reported by genome-wide association studies. However, the implication of the genetic status in cases of sudden coronary death (SCD) from the Chinese Han population has remained to be investigated. The present study established a mini-sequencing system to examine putative death-causing single nucleotide polymorphisms (SNPs) using multiplex PCR, single base extension reaction and capillary electrophoresis techniques. A total of 198 samples from the Chinese Han population (age range, 34-71 years; mean age, 53.86 years) were examined using this method. Samples were classified into three groups: Coronary heart disease (CHD, n=70), SCD (n=53) and control (n=75) group. Significant associations were identified for 10, 4 and 6 SNPs in CHD, SCD and sudden death from CHD, respectively, using the χ test. The SNPs obtained by binary logistic regression may be used to assess and predict the risk of disease. The predictive accuracy of the SNPs in each prediction model and their area under the receiver operating characteristic curve (AUC) values were determined. The AUC of the four SNPs (rs12429889, rs10829156, rs16942421 and rs12155623) to predict CHD was 0.928, the AUC of the six SNPs (rs2389202, rs2982694, rs10183640, rs597503, rs16942421 and rs12155623) to predict SCD was 0.922 and the AUC of the four SNPs (rs16866933, rs4621553, rs10829156 and rs12155623) to predict sudden death from CHD was 0.912. The multifactor dimensionality reduction values were as follows: 0.8690 (prediction model of CHD), 0.7601 (prediction model of SCD) and 0.7628 (prediction model of sudden death from CHD). Taken together, the results of the present study suggested that these SNPs have considerable potential for application in genetic tests to predict CHD or SCD. However, further studies are required to investigate the putative functions of these SNPs.
全基因组关联研究报告了基因变异与心脏骤停或冠状动脉疾病之间的关联。然而，中国汉族人群中基因状态在冠状动脉性猝死（SCD）病例中的意义仍有待研究。本研究建立了一个微测序系统，使用多重聚合酶链反应、单碱基延伸反应和毛细管电泳技术检测假定的致死单核苷酸多态性（SNP）。使用该方法对来自中国汉族人群的198个样本（年龄范围34 - 71岁；平均年龄53.86岁）进行了检测。样本分为三组：冠心病（CHD，n = 70）、SCD（n = 53）和对照组（n = 75）。使用χ检验分别在冠心病、SCD和冠心病猝死中鉴定出10个、4个和6个SNP的显著关联。通过二元逻辑回归获得的SNP可用于评估和预测疾病风险。确定了每个预测模型中SNP的预测准确性及其受试者工作特征曲线下面积（AUC）值。预测冠心病的四个SNP（rs12429889、rs10829156、rs16942421和rs12155623）的AUC为0.928，预测SCD的六个SNP（rs2389202、rs2982694、rs101836,40、rs597503、rs16942421和rs12155623）的AUC为0.922，预测冠心病猝死的四个SNP（rs16866933、rs4621553、rs10829156和rs12155623）的AUC为0.912。多因素降维值如下：0.8690（冠心病预测模型）、0.7601（SCD预测模型）和0.7628（冠心病猝死预测模型）。综上所述，本研究结果表明这些SNP在用于预测冠心病或SCD的基因检测中具有相当大的应用潜力。然而，需要进一步研究来调查这些SNP的假定功能。
