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Heart Genomics pp 219-240 | Cite as

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

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

Abstract

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.

Keywords

Atherosclerosis Coronary heart disease Myocardial infarction GWAS 

Abbreviations

CAD

Coronary artery disease

CARDIoGRAM

Coronary artery disease genome-wide replication and meta-analysis

CHD

Coronary heart disease

CNV

Copy-number variations

CVD

Cardiovascular disease

EWAS

Epigenome-wide association study

FDR

False discovery rate

FH

Familial hypercholesterolemia

FRS

Framingham risk score

GRS

Genetic risk score

GWAS

Genome-wide association study

IHD

Ischemic heart disease

LD

Linkage disequilibrium

LDL

Low-density lipoprotein

MAF

Minor allele frequency

MI

Myocardial infarction

MR

Mendelian randomization

NGS

Next-generation sequencing

PCSK9

Proprotein convertase subtilisin/kexin type 9

PRS

Polygenic risk score

RRS

Reynolds risk score

SNP

Single-nucleotide polymorphism

WES

Whole exome sequencing

WGS

Whole-genome sequencing

WTCCC

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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