A genome-wide association and polygenic risk score study on abnormal electrocardiogram in a Chinese population

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers
  • Case-Control Studies
  • China
  • Cohort Studies
  • Electrocardiography*
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study*
  • Heart / physiopathology*
  • Humans
  • Multifactorial Inheritance*
  • Polymorphism, Single Nucleotide
  • Risk Factors


  • Biomarkers