Replicated Association Study for Metabolic Syndrome of the Gene Cluster in Chromosome 11q23.3

• Published in: Journal of experimental & biomedical sciences Vol. 26; no. 4; pp. 368 - 375
• Main Authors: Kim, Sung-Soo, Park, Sangjung, Jin, Hyun-Seok
• Format: Journal Article
• Language: Korean
• Published: 대한의생명과학회 2020
• Subjects: Metabolic syndrome (MetS); BUD13; SNP; APOA5; ZPR1
• ISSN: 1738-3226; 2288-7415

Metabolic syndrome (MetS) is a disease that is accompanied by various metabolic related problems and refers to a disease in which various adult diseases occur along with obesity. These metabolic syndromes appear according to the individual's genetic background. APOA5-ZPR1-BUD13, a gene cluster belonging to chromosome 11q23.3, is well known for its risk of plasma triglycerides and coronary artery disease. Recently, the GWAS results for metabolic syndrome were published in Koreans. The results included the APOA5-ZPR1-BUD13, and the SNPs that first appeared in Koreans in the ZPR1 and BUD13 were also discovered. In this study, the reproducibility was investigated for the newly discovered ZPR1 (rs964184) and BUD13 (rs2075295, rs1558861) using The Health Examinees (HEXA) cohort and showed significance. In addition, BUD13 (rs117548857, rs10488698, rs149527022, rs10790162), ZPR1 (rs2075290, rs145796806, rs201247587), APOA5 (rs12791103, rs1263173, rs7396835, rs17520254) were additionally discovered and significant results were obtained. For the SNPs that showed significant results, the effect on protein expression and the effect of expression quantitative trait loci (eQTL) were also confirmed. This study is expected to contribute to the prevention and treatment of diseases with differences in onset based on individual genetic patterns as well as presenting the effect of genetic mutations in the APOA5-ZPR1-BUD13 on metabolic syndrome and blood lipid levels.