Heart Genomics pp 219-240 | Cite as

Progress of Genomics in Atherosclerosis-Coronary Heart Disease and Myocardial Infarction

  • Jinqing Yuan
  • Yue Liu
Part of the Translational Bioinformatics book series (TRBIO, volume 16)


Coronary artery disease (CAD) has long been the leading cause of death in the world. It produces great burden on public health and individual life quality. Albeit a complete picture of its biological nature hasn’t been clarified yet, it is acknowledged that CAD, as one of common complex disorders, results from a combination of heritable and environmental factors. In the past decades, the advent and rapid growth of genome-wide association studies (GWASs) for the analysis between phenotypes and genotypes shed light on the heritability underlying CAD. Dozens of risk variants associated with CAD have been identified, and a minority of them present connection with known biological pathways. Nevertheless, it is kept in dispute with respect to whether these substantial and costly projects truly contribute to basic research and clinical utility. Hereinafter, we summarized major findings in genetic architecture of CAD, challenges, and prospects of GWASs.


Atherosclerosis Coronary heart disease Myocardial infarction GWAS 



Coronary artery disease


Coronary artery disease genome-wide replication and meta-analysis


Coronary heart disease


Copy-number variations


Cardiovascular disease


Epigenome-wide association study


False discovery rate


Familial hypercholesterolemia


Framingham risk score


Genetic risk score


Genome-wide association study


Ischemic heart disease


Linkage disequilibrium


Low-density lipoprotein


Minor allele frequency


Myocardial infarction


Mendelian randomization


Next-generation sequencing


Proprotein convertase subtilisin/kexin type 9


Polygenic risk score


Reynolds risk score


Single-nucleotide polymorphism


Whole exome sequencing


Whole-genome sequencing


Wellcome Trust Case Control Consortium


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Copyright information

© Springer Nature Singapore Pte Ltd. 2018

Authors and Affiliations

  • Jinqing Yuan
    • 1
  • Yue Liu
    • 1
  1. 1.State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular DiseasesChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingPeople’s Republic of China

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