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 in MI 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.
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Acknowledgements
We thank all participants and investigators of the Korea Genome Epidemiology Study (KoGES). This work was supported by grants from the Korea Centers for Disease Control and Prevention (4845-301), an intramural grant from the Korea National Institute of Health (2012-N73003-00).
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Corresponding editor: Kunal Ray
Ji-Young Lee and Sanghoon Moon contributed equally to this work.
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Lee, JY., Moon, S., Kim, Y.K. et al. Genome-based exome sequencing analysis identifies GYG1, DIS3L and DDRGK1 are associated with myocardial infarction in Koreans. J Genet 96, 1041–1046 (2017). https://doi.org/10.1007/s12041-017-0854-z
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DOI: https://doi.org/10.1007/s12041-017-0854-z