Genetics of coronary artery disease: discovery, biology and clinical translation

Khera, Amit V.; Kathiresan, Sekar

doi:10.1038/nrg.2016.160

Cited by 659Genetic Associations and EpidemiologyAtherosclerosis and Cardiovascular DiseasesCardiovascular Health and Risk Factors

Genetics of coronary artery disease: discovery, biology and clinical translation

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Khera, Amit V., Kathiresan, Sekar·2017·Nature Reviews Genetics

DOI 10.1038/nrg.2016.160PMC PMC5935119

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Abstract

Coronary artery disease is the leading global cause of mortality. Long recognized to be heritable, recent advances have started to unravel the genetic architecture of the disease. Common variant association studies have linked approximately 60 genetic loci to coronary risk. Large-scale gene sequencing efforts and functional studies have facilitated a better understanding of causal risk factors, elucidated underlying biology and informed the development of new therapeutics. Moving forwards, genetic testing could enable precision medicine approaches by identifying subgroups of patients at increased risk of coronary artery disease or those with a specific driving pathophysiology in whom a therapeutic or preventive approach would be most useful.

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The scientific basis of the imbalance in PRS accuracy has been demonstrated theoretically, in simulations, and empirically across many traits and diseases.
“The scientific basis of this imbalance has been demonstrated theoretically, in simulations, and empirically across many traits and diseases11–22.”
From Clinical use of current polygenic risk scores may exacerbate health disparities (2019) · cites this paper as [12]
The Genomic medicine section discusses polygenic risk scores for coronary artery disease, but does not address an imbalance in their accuracy. Searches for differences across populations and for theoretical, simulation, or cross-trait evidence found no passage establishing the attributed claim. Page numbers were not available in our copy. (LLM, conf=0.75)
Experimental — accuracy not yet measured
PRS are many-fold more accurate in European ancestry individuals than in others, and this disparity is the major ethical and scientific challenge surrounding clinical implementation.
“However, the major ethical and scientific challenge surrounding clinical implementation is that they are many-fold more accurate in European ancestry individuals than others.”
From Clinical use of current polygenic risk scores may exacerbate health disparities (2019) · cites this paper as [12]
The Genomic medicine section describes polygenic risk scores and their potential clinical use, but does not compare their accuracy across ancestry groups. The Common variant association studies section mentions a genotyping chip designed for individuals of European ancestry; it does not establish a many-fold accuracy difference or identify that disparity as the major ethical and scientific challenge. Searches for ancestry-related accuracy and clinical-implementation challenges found no passage addressing the claim. (LLM, conf=0.76)
Experimental — accuracy not yet measured
The presence of genetic evidence to support causation increases the probability several-fold of a therapeutic targeting the same biomarker being successful in a phase III outcome trial and obtaining a marketing authorisation.
“The presence of genetic evidence to support causation increases the probability several-fold of a therapeutic targeting the same biomarker being successful in a phase III outcome trial and obtaining a marketing authorisation 11 12 .”
From Integrating genomics with biomarkers and therapeutic targets to invigorate cardiovascular drug development (2021) · cites this paper as [12]

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[55]Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease N Engl J Med 374 1134 1144 2016 26934567 PMC4850838
[128]Ridker PM Libby P Buring JE Risk Markers and the Primary Prevention of Cardiovascular Disease Bonor RO Mann DL Zipes DP Libby P Braunwald’s Heart Disease: A Textbook of Cardiovascular Medicine 10 Atlanta, GA Elsevier Health Sciences 891 933 2014

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Authors: Khera, A. V., & Kathiresan, S.
Affiliations: Broad Institute (US)
Corresponding author: Kathiresan, Sekar
ORCID: Khera, Amit V.
Kathiresan, Sekar
Venue: Nature Reviews Genetics
Publisher: Springer Science and Business Media LLC
Published: 2017-03-13
Volume: 18
Issue: 6
Pages: 331-344
ISSN: 1471-0056 (ISSN-L)
1471-0064
DOI: 10.1038/nrg.2016.160
PMC: PMC5935119
OpenAlex: W2597132418
Cited by: 659
References: 133
Citations by year: 2026: 50 · 2025: 70 · 2024: 80 · 2023: 98 · 2022: 78 · 2021: 80 · 2020: 66 · 2019: 60 · 2018: 59 · 2017: 18
FWCI: 7.14
Type: journal article
Language: en
Open access: green
europepmc.org
Licence: www.springer.com/tdm (tdm)
Locations: Nature Reviews Genetics (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: National Institutes of Health (KL2TR001100)
National Heart, Lung, and Blood Institute (R01HL127564)
National Human Genome Research Institute (UM1HG008895)
National Center for Advancing Translational Sciences
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Immunology and Microbiology › Immunology › Atherosclerosis and Cardiovascular Diseases
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Health and Risk Factors
Keywords: coronary artery disease, genetic architecture, common genetic variants, genetic susceptibility loci, causal risk factors, precision medicine, genetic testing, cardiovascular therapeutics, heritability
MeSH terms: Animals, Coronary Artery Disease, Humans, Translational Research, Biomedical, Precision Medicine

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Genetics of coronary artery disease: discovery, biology and clinical translation

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