Genome-wide association study of metabolic syndrome in Korean populations

PLoS One. 2020 Jan 7;15(1):e0227357. doi: 10.1371/journal.pone.0227357. eCollection 2020.

Abstract

Metabolic syndrome (MetS) which is caused by obesity and insulin resistance, is well known for its predictive capability for the risk of type 2 diabetes mellitus and cardiovascular disease. The development of MetS is associated with multiple genetic factors, environmental factors and lifestyle. We performed a genome-wide association study to identify single-nucleotide polymorphism (SNP) related to MetS in large Korean population based samples of 1,362 subjects with MetS and 6,061 controls using the Axiom® Korean Biobank Array 1.0. We replicated the data in another sample including 502 subjects with MetS and 1,751 controls. After adjusting for age and sex, rs662799 located in the APOA5 gene were significantly associated with MetS. 15 SNPs in GCKR, C2orf16, APOA5, ZPR1, and BUD13 were associated with high triglyceride (TG). 14 SNPs in APOA5, ALDH1A2, LIPC, HERPUD1, and CETP, and 2 SNPs in MTNR1B were associated with low high density lipoprotein cholesterol (HDL-C) and high fasting blood glucose respectively. Among these SNPs, 6 TG SNPs: rs1260326, rs1260333, rs1919127, rs964184, rs2075295 and rs1558861 and 11 HDL-C SNPs: rs4775041, rs10468017, rs1800588, rs72786786, rs173539, rs247616, rs247617, rs3764261, rs4783961, rs708272, and rs7499892 were first discovered in Koreans. Additional research is needed to confirm these 17 novel SNPs in Korean population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Asian People / genetics
  • Blood Glucose / genetics
  • Cardiovascular Diseases / genetics
  • Cardiovascular Diseases / pathology
  • Cholesterol, HDL / blood
  • Cholesterol, HDL / genetics*
  • Diabetes Mellitus, Type 2 / genetics
  • Diabetes Mellitus, Type 2 / pathology
  • Fasting
  • Female
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study*
  • Genotype
  • Humans
  • Insulin Resistance / genetics
  • Male
  • Metabolic Syndrome / blood
  • Metabolic Syndrome / genetics*
  • Metabolic Syndrome / pathology
  • Middle Aged
  • Obesity / genetics
  • Obesity / pathology
  • Polymorphism, Single Nucleotide

Substances

  • Blood Glucose
  • Cholesterol, HDL

Grants and funding

This work was supported by the Technology Innovation Program (10050154, Business Model Development for Personalized Medicine Based on Integrated Genome and Clinical Information) funded By the Ministry of Trade, Industry & Energy (MOTIE, Korea). Jong-Eun Lee, Eunsoon Shin and Hwanseok Rhee are employed by DNA Link, Inc. DNA Link, Inc. provided support in the form of salaries for these authors, but did not have any additional role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. The specific roles of these authors are articulated in the ‘author contributions’ section.