Association Study of <i>STON1</i> Genetic Polymorphism with Hyperlipidemia in a Korean Population

Objectives: Hyperlipidemia is a metabolic syndrome in which lipid or lipoprotein levels in the blood increase due to metabolic and functional abnormalities of fat.Excessive adipocyte hypertrophy causes cellular organ dysfunction, hormonal dysregulation, fatty acid storage disorders, and lipotoxicity to non-fat tissue organs such as the liver, muscles, and pancreas.STON1 has recently been proposed as a protein-coding gene involved in the intracellular tissue and metabolic process of adipocytes, which is characterized by high expression in adipose tissue.In this study, the correlation between the STON1 and hyperlipidemia was analyzed.Methods: Genetic polymorphisms of STON1 were investigated using Korean genomic and epidemiological data.A gene association study was performed using PLINK version 1.07.Other statistical analyses were performed using PASW Statistics version 18.0.Results: The genetic polymorphisms in the STON1 gene were analyzed in 181 hyperlipidemia patients and 7,547 healthy controls in Korean.As a result, 4 single nucleotide polymorphisms (SNPs) showed statistical significance (P < 0.05) in the genotype, 33 SNPs showed a significant correlation after imputation, and the relative risk of hyperlipidemia was low.Among them, rs3792234 of STON1 showed the highest significant association with hyperlipidemia (P-value = 6 10-4, odds ratio = 0.67, 95% confidence interval = 0.53-0.84).The genotype-based mRNA expression analysis showed that the group of minor alleles of rs3792234 showed decreased mRNA expression.Conclusion: Polymorphism in STON1 is associated with the development of hyperlipidemia, which may provide a basis for new guidelines for the management of hyperlipidemia in the Korean population.