Lee Ji-Young, Moon Sanghoon, Kim Yun Kyoung, Lee Sang-Hak, Lee Bok-Soo, Park Min-Young, Park Jeong Euy, Jang Yangsoo, Han Bok-Ghee
Center for Genome Science,Korea National Institute ofHealth,KCDC,Cheongju-si,Chungcheongbuk-do 363-951,Korea.
J Genet. 2017 Dec;96(6):1041-1046. doi: 10.1007/s12041-017-0854-z.
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.
心肌梗死（MI）是一种由遗传和环境因素共同作用引起的复杂疾病。尽管全基因组关联研究（GWAS）已经确定了46多个与冠状动脉疾病和心肌梗死相关的风险位点，但心肌梗死中大多数的遗传变异性仍未明确。在这里，我们使用外显子组测序筛选了心肌梗死的易感位点，并在复制集中验证了候选变异体。我们发现在发现和复制阶段，三个基因（GYG1、DIS3L和DDRGK1）与心肌梗死相关。需要进一步的研究来确定这些基因与心肌梗死风险之间的功能关联，并且这些关联必须在其他种族人群中得到证实。
