Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease
Open accessAbstract
BACKGROUND: Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype. METHODS: We sequenced the protein-coding regions of 18,666 genes in each of 3734 participants of European or African ancestry in the Exome Sequencing Project. We conducted tests to determine whether rare mutations in coding sequence, individually or in aggregate within a gene, were associated with plasma triglyceride levels. For mutations associated with triglyceride levels, we subsequently evaluated their association with the risk of coronary heart disease in 110,970 persons. RESULTS: An aggregate of rare mutations in the gene encoding apolipoprotein C3 (APOC3) was associated with lower plasma triglyceride levels. Among the four mutations that drove this result, three were loss-of-function mutations: a nonsense mutation (R19X) and two splice-site mutations (IVS2+1G→A and IVS3+1G→T). The fourth was a missense mutation (A43T). Approximately 1 in 150 persons in the study was a heterozygous carrier of at least one of these four mutations. Triglyceride levels in the carriers were 39% lower than levels in noncarriers (P<1×10(-20)), and circulating levels of APOC3 in carriers were 46% lower than levels in noncarriers (P=8×10(-10)). The risk of coronary heart disease among 498 carriers of any rare APOC3 mutation was 40% lower than the risk among 110,472 noncarriers (odds ratio, 0.60; 95% confidence interval, 0.47 to 0.75; P=4×10(-6)). CONCLUSIONS: Rare mutations that disrupt APOC3 function were associated with lower levels of plasma triglycerides and APOC3. Carriers of these mutations were found to have a reduced risk of coronary heart disease. (Funded by the National Heart, Lung, and Blood Institute and others.).
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Mendelian randomization analyses confirm a causal relationship between lifelong TRL elevation and ASCVD.
“Observational cohorts demonstrate that higher TG and remnant cholesterol predict cardiovascular events independently of LDL-C, while Mendelian randomization analyses confirm a causal relationship between lifelong TRL elevation and ASCVD.”
From Targeting triglycerides for cardiovascular risk reduction (2026) · cites this paper as [60]
The Discussion (page unavailable in our copy) explicitly says that whether triglyceride-rich lipoproteins have a causal effect on coronary heart disease “remains unanswered.” It describes the APOC3 genetic findings as suggesting that a lifelong decrease in triglyceride-rich lipoproteins may be protective, not as confirming the claimed causal relationship. (LLM, conf=0.90)
Checked by a reasoning model — may be wrong.
Experimental — accuracy not yet measuredLoss-of-function mutations of ApoC-III are associated with a lower risk of CVD.
“In contrary, loss-of-function mutations of the ApoC-III are associated with a lower risk of CVD [170–172].”
From Established and Emerging Lipid-Lowering Drugs for Primary and Secondary Cardiovascular Prevention (2023) · cites this paper as [172]
The Results report a lower risk of coronary heart disease among carriers of rare APOC3 mutations, and the Discussion explicitly says that loss of APOC3 function confers protection against clinical coronary heart disease. The claim broadens that finding to CVD generally; our copy establishes the association for coronary heart disease, not all cardiovascular disease. (LLM, conf=0.86)
Experimental — accuracy not yet measuredApolipoprotein C-III is a central regulator of triglyceride metabolism that limits the clearance of triglyceride-rich lipoproteins through inhibition of lipoprotein lipase and hepatic uptake of triglyceride-rich lipoprotein remnants.
“Apolipoprotein C-III is a central regulator of triglyceride metabolism that limits the clearance of triglyceride-rich lipoproteins through inhibition of lipoprotein lipase and hepatic uptake of triglyceride-rich lipoprotein remnants. 6-8”
From Targeting <i>APOC3</i> with Olezarsen in Moderate Hypertriglyceridemia (2025) · cites this paper as [8]
The Discussion states that APOC3 inhibits lipoprotein lipase and delays clearance of triglyceride-rich lipoprotein remnants. It does not explicitly identify hepatic uptake as the route of that delayed clearance; that more specific mechanism is not established by the cited paper’s discussion. (LLM, conf=0.82)
Experimental — accuracy not yet measuredLoss-of-function mutations in APOC3 result in significantly lower plasma triglyceride levels and confer a 40-50% lower risk of ischemic cardiovascular events.
“For instance, loss-of-function mutations in APOC3, which encodes apolipoprotein C-III, result in significantly lower plasma TG levels and confer a 40–50% lower risk of ischemic cardiovascular events [25].”
From Targeting Triglycerides in Cardiovascular Disease Prevention: Evidence, Mechanisms, and Emerging Therapies (2026) · cites this paper as [25]
The Results report significantly lower triglyceride levels in carriers and a 40% lower risk of coronary heart disease. The claim broadens that measured outcome to ischemic cardiovascular events generally, which the cited results do not establish. (LLM, conf=0.88)
Experimental — accuracy not yet measuredLoss-of-function variants in APOC3 confer protection against coronary artery disease, independent of LDL cholesterol levels.
“loss-of-function variants in APOC3 confer protection against coronary artery disease, independent of LDL cholesterol levels [60, 112]”
From Targeting triglycerides for cardiovascular risk reduction (2026) · cites this paper as [60]
The Results report a 40% lower coronary heart disease risk among carriers of rare APOC3 mutations. But the Discussion also reports lower LDL cholesterol in carriers and says the mechanism of protection cannot be pinpointed. The paper therefore does not establish that the protection is independent of LDL cholesterol levels. (LLM, conf=0.90)
Experimental — accuracy not yet measured
Individuals with loss-of-function mutations in APOC-III have significantly reduced triglycerides and remnant cholesterol, and a nearly 40% lower ASCVD risk.
“Individuals with loss-of-function mutations in APOC-III exhibit significantly reduced levels of triglycerides and remnant cholesterol, along with a nearly 40% reduction in ASCVD risk [32, 33].”
From The Efficacy and Safety of Plozasiran on Lipid Profile in Dyslipidemic Disorders: A Systematic Review and Meta-Analysis (2026) · cites this paper as [32]
The Results report 39% lower triglycerides and 40% lower coronary heart disease risk among carriers of the studied APOC3 variants. The paper does not report a measured reduction in remnant cholesterol, and its risk estimate is for coronary heart disease rather than ASCVD as a whole. (LLM, conf=0.90)
Experimental — accuracy not yet measuredIndividuals with genetic loss-of-function mutations in APOC3 exhibit markedly lower triglyceride levels and reduced incidence of coronary artery disease.
“Individuals with genetic loss-of-function mutations in the APOC3 gene exhibit markedly lower TG levels and reduced incidence of CAD, highlighting apoC-III as a compelling therapeutic target for HTG and associated complications [25, 29, 43].”
From Targeting Triglycerides in Cardiovascular Disease Prevention: Evidence, Mechanisms, and Emerging Therapies (2026) · cites this paper as [25]
Genetic studies support the role of apo C-III and ANGPTL3 in atherosclerosis.
“Similarly, with genetic studies supporting the role of several novel therapeutic targets (eg, apo C-III and ANGPTL3) in atherosclerosis, ongoing clinical trials using RNA interference therapy (antisense oligonucleotides and small interfering RNAs) have the potential to further inform our understanding of the triglyceride-based atherosclerotic pathways (120,121).”
From 2021 ACC Expert Consensus Decision Pathway on the Management of ASCVD Risk Reduction in Patients With Persistent Hypertriglyceridemia (2021) · cites this paper as [120]
Two large randomized controlled trials of extended-release niacin versus placebo on background statin therapy in individuals with established ASCVD did not demonstrate a reduction in vascular events.
“Two large randomized controlled trials (RCTs) evaluating the efficacy of extended-release niacin vs placebo on background statin therapy in individuals with established ASCVD did not demonstrate a reduction in vascular events”
From The Forgotten Lipids: Triglycerides, Remnant Cholesterol, and Atherosclerotic Cardiovascular Disease Risk (2019) · cites this paper as [19]
The Discovery Cohorts and APOC3 loss-of-function results sections describe genetic associations with coronary heart disease, not niacin treatment trials. Searches for extended-release niacin, placebo, background statin therapy, and vascular events found no passage in our copy addressing the two claimed randomized trials. (LLM, conf=0.78)
Experimental — accuracy not yet measuredApoCIII is a predictor of CV disease.
“ApoCIII is a predictor of CV disease and reduced apoCIII levels may have direct beneficial effects on the vessel wall, such as by reducing its retention of LDL particles (LDL-apoCIII) [48–50].”
Reduced apoCIII levels may have direct beneficial effects on the vessel wall, such as by reducing its retention of LDL particles.
“ApoCIII is a predictor of CV disease and reduced apoCIII levels may have direct beneficial effects on the vessel wall, such as by reducing its retention of LDL particles (LDL-apoCIII) [48–50].”
Apo C-III is a genetically validated target to reduce ASCVD risk.
“and is a genetically validated target to reduce ASCVD risk.8–10,64–66”
From Clinical review on triglycerides (2020) · cites this paper as [64]
Apolipoprotein CIII has been identified as a potentially important new risk factor.
“ApoCIII has been identified as a potentially important new risk factor. 104-106”
From 2016 ESC/EAS Guidelines for the Management of Dyslipidaemias (2016) · cites this paper as [106]
Loss of function mutations in apolipoprotein CIII are associated with low triglycerides and reduced risk for cardiovascular disease.
“Furthermore, loss of function mutations are associated with low TGs as well as with reduced risk for CVD. 106,107”
From 2016 ESC/EAS Guidelines for the Management of Dyslipidaemias (2016) · cites this paper as [106]
Loss of function mutations in apoCIII are associated with low triglycerides and reduced cardiovascular disease risk.
“Furthermore, loss of function mutations are associated with low TGs as well as with reduced risk for CVD.106,107”
From 2016 ESC/EAS Guidelines for the Management of Dyslipidaemias (2016) · cites this paper as [106]
Genetic defects controlling TG metabolism, including APOC3, ANGPTL3 and ANGPTL4, linked to reduced TG are associated with reduced coronary calcification or reduced CVD risk.
“defects in genes controlling TG metabolism, including APOC3, ANGPTL3 and ANGPTL4 that have been linked to reduced TG and are associated with reduced coronary calcification25 or reduced CVD risk.26-30”
From Is Isolated Low High-Density Lipoprotein Cholesterol a Cardiovascular Disease Risk Factor?: New Insights From the Framingham Offspring Study (2016) · cites this paper as [27]
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Triglycerides and Triglyceride-Rich Lipoproteins in the Causal Pathway of Cardiovascular Disease
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HDL and cognition in neurodegenerative disorders
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Apolipoprotein C-III: from pathophysiology to pharmacology
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Plozasiran (ARO-APOC3) for Severe Hypertriglyceridemia
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Lipid-Lowering Agents: Targets Beyond PCSK9
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- Authors
- The TG and HDL Working Group of the Exome Sequencing Project, N. H.
- Corresponding author
- The TG and HDL Working Group of the Exome Sequencing Project, National Heart, Lung, and Blood Institute
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2014-07-03
- Volume
- 371
- Issue
- 1
- Pages
- 22-31
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC4180269
- OpenAlex
- W2170009139
- Semantic Scholar
- b3c2b9d4976782980ff38a64e223209866004dcc
- Cited by
- 1,071
- References
- 66
- Citations by year
- 2026: 52 · 2025: 73 · 2024: 48 · 2023: 56 · 2022: 75 · 2021: 93 · 2020: 110 · 2019: 90 · 2018: 81 · 2017: 113 · 2016: 132 · 2015: 107 · 2014: 41
- FWCI
- 89.17
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Universitätsbibliographie, Universität Duisburg-Essen (submittedVersion)
- Discovery Research Portal (University of Dundee) (submittedVersion)
- Leicester Research Archive (University of Leicester) (submittedVersion)
- Lund University Publications (Lund University) (submittedVersion, other-oa)
- mediaTUM (Technical University of Munich) (submittedVersion)
- Site cant be reached (submittedVersion)
- Funders
- U.S. Department of Agriculture
- Massachusetts General Hospital (R01HL107816)
- University of Wisconsin-Milwaukee
- George Washington University
- University of Washington
- Donovan Family Foundation
- University of Ottawa
- Norges Teknisk-Naturvitenskapelige Universitet
- Queen Mary University of London
- Wellcome Trust
- Deutsches Zentrum für Herz-Kreislaufforschung
- Università degli Studi di Milano
- University of Texas Health Science Center at Houston
- Broad Institute
- Russell and Diana Hawkins Family Foundation
- National Institute for Health and Care Research (NF-SI-0611-10170)
- British Heart Foundation
- University of Leicester
- University of Oxford
- University of Leeds
- Fondation Leducq (T32HL007208)
- Lunds Universitet
- Hjärt-Lungfonden
- King Abdulaziz University
- Universität zu Lübeck
- Umeå Universitet
- Technische Universität München
- Università degli Studi di Verona
- Rheinische Friedrich-Wilhelms-Universität Bonn
- Novo Nordisk Fonden (NNF14OC0009819, NNF13OC0005339, NNF14OC0011049)
- Regione Emilia-Romagna
- National Institutes of Health (1rc2hl103010-01)
- School of Medicine, Stanford University
- University of North Carolina at Chapel Hill
- Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
- Canadian Institutes of Health Research
- Medical Research Council
- Barts and The London School of Medicine and Dentistry
- Helmholtz Zentrum München
- National Institute on Aging (P30AG010129, U01AG049505)
- National Heart, Lung, and Blood Institute (HL 102923, RC2HL102925, HL-102924, K08HL114642, RC2HL102926, RC2HL102923, RC2HL-103010, HL 103010, RC2HL102924, R01HL107816, T32HL007208, R01HL109946)
- National Cancer Institute (R01CA082659)
- National Institute of Neurological Disorders and Stroke (R01NS017950)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- apolipoprotein C-III, loss-of-function mutations, plasma triglycerides, coronary artery disease, rare variants, splice site mutation, nonsense mutation, missense mutations, genetic risk, European ancestry, African ancestry
- MeSH terms
- Coronary Disease, Genotype, Heterozygote, Humans, Liver, Mutation, Risk Factors, Triglycerides, Sequence Analysis, DNA, Black People, White People, Apolipoprotein C-III, Exome
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