Genome-based exome sequencing analysis identifies GYG1, DIS3L and DDRGK1 are associated with myocardial infarction in Koreans

J Genet. 2017 Dec;96(6):1041-1046. doi: 10.1007/s12041-017-0854-z.

Abstract

Myocardial infarction (MI) is a complex disease caused by combination of genetic and environmental factors. Although genome-wide association studies (GWAS) identified more than 46 risk loci which are associated with coronary artery disease and MI, most of the genetic variability inMI still remains undefined. Here, we screened the susceptibility loci for MI using exome sequencing and validated candidate variants in replication sets. We identified that three genes (GYG1, DIS3L and DDRGK1) were associated with MI at the discovery and replication stages. Further research will be required to determine the functional association of these genes with MI risk, and these associations have to be confirmed in other ethnic populations.

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Adult
  • Asian People / genetics
  • Carrier Proteins / genetics*
  • Exome Sequencing
  • Female
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Genotype
  • Glucosyltransferases / genetics*
  • Glycoproteins / genetics*
  • Humans
  • Male
  • Middle Aged
  • Myocardial Infarction / genetics*
  • Myocardial Infarction / pathology
  • Polymorphism, Single Nucleotide / genetics
  • Ribonucleases / genetics*
  • Risk Factors

Substances

  • Adaptor Proteins, Signal Transducing
  • Carrier Proteins
  • DDRGK1 protein, human
  • Glycoproteins
  • glycogenin
  • Glucosyltransferases
  • DIS3L protein, human
  • Ribonucleases