Biomedical Science Letters (대한의생명과학회지)

The Korean Society for Biomedical Laboratory Sciences (대한의생명과학회)
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Associations Between APOE Gene Variants and Metabolite Levels in Hypercholesterolemia: A Metabolite GWAS Study in a Korean Cohort

  • Sangjung Park (Department of Biomedical Laboratory Science, College of Life and Health Sciences, Hoseo University)
  • Received : 2024.08.05
  • Accepted : 2024.08.22
  • Published : 2024.09.30
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Abstract

Hypercholesterolemia, a form of hyperlipidemia, is a significant risk factor for cardiovascular diseases, often linked to genetic variations in the APOE gene, particularly the ε4 allele, which influences LDL cholesterol levels. This study aimed to examine the association between APOE gene variants and plasma sphingomyelin levels in Korean individuals with hypercholesterolemia, using a metabolite genome-wide association study (mGWAS) approach. Data from 7,031 participants in the Korean Genome and Epidemiology Study (KoGES) were analyzed. Genetic associations with cholesterol and sphingomyelin levels were evaluated through Exome chip analysis and metabolite profiling. Significant associations were identified between specific APOE variants (e.g., rs769449, rs4420638) and serum cholesterol levels. Additionally, certain SNPs were linked to variations in plasma sphingomyelin levels, suggesting a genetic influence on both lipid and sphingomyelin metabolism. The findings underscore the relevance of mGWAS in unraveling the genetic and metabolic pathways involved in hypercholesterolemia, offering potential biomarkers for disease risk and therapeutic targets.

Keywords

Acknowledgement

This study was conducted with bioresources from National Biobank of Korea, the Korea Disease Control and Prevention Agency, Republic of Korea (NBK-2022-45). This research was supported by the Academic Research Fund of Hoseo University in 20210805

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