Association Study between Biomarkers of Metabolites and Their Relevance Genes for Hypertension in Korean Adults

다국어 초록 (Multilingual Abstract)

Metabolites are intermediates and the end-products of biological pathways, and are closely associated with biochemical activity and clinical characteristics, making them useful indicators of disease. Although the pathophysiological mechanisms underlying hypertension are relatively well understood, studies investigating the metabolite changes associated with the development of hypertension remain limited. This study aimed to identify hypertension-related metabolites and single-nucleotide polymorphisms (SNPs) using data from a Korean cohort. The analysis was based on the Korean Genome and Epidemiology Study (KoGES) cohort, which included 7,515 adults residing in the Ansan and Anseong regions. Among the metabolites, phosphatidylcholine (PC) had the strongest association with hypertension. Linear regression analysis between PC and SNPs revealed significant associations with SNPs located in genes such as HECT domain E3 ubiquitin protein ligase 4 (HECTD4), myelin regulatory factor, and fatty acid desaturase 1. In particular, the rs11066280 variant in the HECTD4 gene was significantly associated with hypertension (P=0.03). In conclusion, PC and the HECTD4 gene are associated with hypertension in the Korean population. These findings may serve as a foundation for the early diagnosis, risk prediction, and development of personalized treatment strategies for hypertension.