Department of Epidemiology and Biostatistics, West China School of Public Health and West China Fourth Hospital, Sichuan University, Renmin South Road 16, Chengdu, 610041, Sichuan, People's Republic of China.
Department of Population Health Science, Medical College of Georgia, Augusta University, 1120 15th Street, Augusta, GA, 30912, USA.
Sci Rep. 2021 Feb 25;11(1):4669. doi: 10.1038/s41598-021-84135-7.
Electrocardiography is a common and widely-performed medical examination based on the measurement and evaluation of electrocardiogram (ECG) to assess the up-to-date cardiac rhythms and thus suggest the health conditions of cardiovascular system and on a larger level the individual's wellness. Abnormal ECG assessment from the detection of abnormal heart rhythms may have clinical implications including blood clots in formation, ongoing heart attack, coronary artery blockage, etc. Past genetic-phenotypic research focused primarily on the physical parameters of ECG but not the medical evaluation. To unbiasedly uncover the underlying links of genetic variants with normal vs. abnormal ECG assessment, a genome-wide association study (GWAS) is carried out in a 1006-participant cohort of Chinese population effectively genotyped for 243487 single nucleotide polymorphisms (SNPs). Both age and sex are influential factors, and six novel SNPs are identified for potential association with abnormal ECG. With the selected SNPs, a polygenic risk score (PRS) differentiates the case-control subgroups, and correlates well with increased risk of abnormal ECG. The findings are reproduced in an independent validation cohort. The derived PRS may function as a potential biomarker for prospectively screening the high-risk subgroup of heart issues in the Chinese population.
心电图是一种常见且广泛应用的医学检查，基于心电图（ECG）的测量和评估，以评估最新的心脏节律，从而提示心血管系统和更大程度上的个体健康状况。从异常心率的检测中评估异常心电图可能具有临床意义，包括血栓形成、持续的心脏病发作、冠状动脉阻塞等。过去的遗传表型研究主要集中在心电图的物理参数上，而不是医学评估。为了公正地揭示遗传变异与正常与异常心电图评估之间的潜在联系，对一个由 1006 名中国参与者组成的队列进行了全基因组关联研究（GWAS），这些参与者的 243487 个单核苷酸多态性（SNP）被有效地进行了基因分型。年龄和性别都是影响因素，确定了 6 个新的 SNP 与异常心电图有潜在关联。利用选定的 SNP，多基因风险评分（PRS）区分了病例对照亚组，并且与异常心电图的风险增加密切相关。该发现可在独立验证队列中重现。所得到的 PRS 可作为一种潜在的生物标志物，用于前瞻性筛查中国人群中心脏问题的高危亚组。
