Key result
The minor allele of rs117215150 was significantly associated with an increased risk of abnormal electrocardiogram findings (OR 2.38) in a Chinese population.
Why the study?
Past genetic-phenotypic research focused primarily on physical ECG parameters rather than medical evaluation, leaving genetic links with normal versus abnormal ECG assessments unexplored.
Do specific genetic variants and a derived polygenic risk score associate with abnormal electrocardiogram assessments in a Chinese population?
Observational (n=1,006)
Do specific genetic variants and a derived polygenic risk score associate with abnormal electrocardiogram assessments in a Chinese population?
A novel polygenic risk score based on six SNPs is significantly associated with abnormal ECG findings in a Chinese population, potentially serving as a biomarker for high-risk screening.
Answers are grounded in this paper and cite their sources.
rs117215150 was associated with abnormal ECG in Chinese adults; hypothesis-generating for PRS-based screening, requiring prospective validation before clinical use.
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.
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Wang et al. (2021) conducted an observational in Abnormal electrocardiogram (n=1,006). rs117215150 minor allele (T) vs. Reference allele was evaluated on Abnormal ECG assessment (OR 2.38, 95% CI 1.68, 3.37, p=9.3 × 10^-7). The minor allele of rs117215150 was significantly associated with an increased risk of abnormal electrocardiogram findings (OR 2.38) in a Chinese population.
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