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

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Heart Genomics

Part of the book series: Translational Bioinformatics ((TRBIO,volume 16))

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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.

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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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Authors and Affiliations

  1. State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People’s Republic of China

    Jinqing Yuan & Yue Liu

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  1. Jinqing Yuan
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  2. Yue Liu
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  1. Zhongshan Hospital, Fudan University, Shanghai, China

    Hong Jiang

  2. Zhongshan Hospital, Fudan University, Shanghai, China

    Ming Liu

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Yuan, J., Liu, Y. (2018). Progress of Genomics in Atherosclerosis-Coronary Heart Disease and Myocardial Infarction. In: Jiang, H., Liu, M. (eds) Heart Genomics. Translational Bioinformatics, vol 16. Springer, Singapore. https://doi.org/10.1007/978-981-13-1429-2_8

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