The DOI matches its Crossref record; 65 of the 66 references it cites were found in a registry or an index.
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.).
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The cited source doesn’t support the claim as written.
In the citing paper
“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]
Checked by a reasoning model — may be wrong.
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“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]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“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 APOC3 with Olezarsen in Moderate Hypertriglyceridemia (2025) · cites this paper as [8]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“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]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“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]
Experimental — accuracy not yet measured
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“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]
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“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]
The cited source says what the claim attributes to it.
In the citing paper
“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]
The check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“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]
Experimental — accuracy not yet measuredIn the citing paper
“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].”
In the citing paper
“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].”
In the citing paper
“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]
In the citing paper
“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]
In the citing paper
“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]
In the citing paper
“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]
In the citing paper
“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]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
The Sequence Alignment/Map format and SAMtools
Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., Marth, G., Abecasis, G., Durbin, R., & 1000 Genome Project Data Processing Subgroup (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp352 · Cited by 62,041
Fast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607
PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089
A framework for variation discovery and genotyping using next-generation DNA sequencing data
DePristo, M. A., Banks, E., Poplin, R. E., Garimella, K. V., Maguire, J., Hartl, C., Philippakis, A., del Angel, G., Rivas, M. A., Hanna, M., et al. (2011) · Nature Genetics · doi:10.1038/ng.806 · Cited by 11,457
Multi-Ethnic Study of Atherosclerosis: Objectives and Design
Bild, D. E. (2002) · American Journal of Epidemiology · doi:10.1093/aje/kwf113 · Cited by 3,942
The Cardiovascular Health Study: design and rationale.
Fried, L. P., Borhani, N. O., Enright, P., Furberg, C. D., Gardin, J. M., Kronmal, R. A., Kuller, L. H., Manolio, T. A., Mittelmark, M. B., Newman, A., et al. (1991) · Annals of Epidemiology · doi:10.1016/1047-2797(91)90005-w · Cited by 3,652
Robust relationship inference in genome-wide association studies
Manichaikul, A., Mychaleckyj, J. C., Rich, S. S., Daly, K., Sale, M., & Chen, W.-M. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq559 · Cited by 3,541
THE ATHEROSCLEROSIS RISK IN COMMUNIT (ARIC) STUDY: DESIGN AND OBJECTIVES
THE ARIC INVESTIGATORS (1989) · American Journal of Epidemiology · doi:10.1093/oxfordjournals.aje.a115184 · Cited by 3,510
Biological, clinical and population relevance of 95 loci for blood lipids
Teslovich, T. M., Musunuru, K., Smith, A. V., Edmondson, A. C., Stylianou, I. M., Koseki, M., Pirruccello, J. P., Ripatti, S., Chasman, D. I., Willer, C. J., et al. (2010) · Nature · doi:10.1038/nature09270 · Cited by 3,487
Sequence Variations in PCSK9, Low LDL, and Protection against Coronary Heart Disease
Cohen, J. C., Boerwinkle, E., Mosley, T. H., & Hobbs, H. H. (2006) · New England Journal of Medicine · doi:10.1056/nejmoa054013 · Cited by 3,181
Flagged first, then by citations
1 of the 66 references couldn’t be matched to a known paper.
Research works printed but not linked: 1
- Taylor HA, 2005, Ethn Dis, 15, S4
Cited by
Sorted by citations
Items 601–700 of 1,001
Novel Therapeutics for Familial Chylomicronemia Syndrome
Izar, M. C. D. O., & Fonseca, F. A. H. (2025) · Current Atherosclerosis Reports · doi:10.1007/s11883-025-01295-x · Cited by 13
Evolving targets for lipid‐modifying therapy
Do, R. Q., Nicholls, S. J., & Schwartz, G. G. (2014) · EMBO Molecular Medicine · doi:10.15252/emmm.201404000 · Cited by 13
Rosenson, R. S., & Köenig, W. (2016) · Cardiovascular Drugs and Therapy · doi:10.1007/s10557-016-6642-9 · Cited by 12
Povsic, T. J., Scott, R. C., Mahaffey, K. W., Blaustein, R. O., Edelberg, J. M., Lefkowitz, M. P., Solomon, S. D., Fox, J. C., Healy, K. E., Khakoo, A. Y., et al. (2017) · Cardiovascular Drugs and Therapy · doi:10.1007/s10557-017-6739-9 · Cited by 12
Proprotein convertase subtilisin/kexin type 9
Stoekenbroek, R. M., & Kastelein, J. J. P. (2018) · Current Opinion in Cardiology · doi:10.1097/hco.0000000000000517 · Cited by 14
Wang, M., Lee-Kim, V. S., Atri, D. S., Elowe, N. H., Yu, J., Garvie, C. W., Won, H., Hadaya, J. E., MacDonald, B. T., Trindade, K., et al. (2021) · Circulation Genomic and Precision Medicine · doi:10.1161/circgen.121.003399 · Cited by 12
Li, W., Wang, Y., Huang, R., Feng, L., Xu, G., Wang, W., & Xue, S. (2022) · Molecular Biology Reports · doi:10.1007/s11033-022-07789-0 · Cited by 13
Sandholm, N., Hotakainen, R., Haukka, J. K., Sigfrids, F. J., Dahlström, E. H., Antikainen, A. A., Valo, E., Syreeni, A., Kilpeläinen, E., Kytölä, A., et al. (2022) · Genome Medicine · doi:10.1186/s13073-022-01135-6 · Cited by 10
Using human genetics to predict the effects and side-effects of drugs
Stender, S., & Tybjærg‐Hansen, A. (2016) · Current Opinion in Lipidology · doi:10.1097/mol.0000000000000280 · Cited by 13
Triglycerides Revisited to the Serial
Viecili, P. R. N., da Silva, B., Hirsch, G. E., Porto, F. G., Parisi, M. M., Castanho, A. R., Wender, M., & Klafke, J. Z. (2017) · Advances in clinical chemistry · doi:10.1016/bs.acc.2016.11.001 · Cited by 14
Liu, C., Gaudet, D., & Miller, Y. I. (2017) · PLoS ONE · doi:10.1371/journal.pone.0169939 · Cited by 11
van Capelleveen, J. C., Lee, S. R., Verbeek, R., Kastelein, J. J. P., Wareham, N. J., Stroes, E. S. G., Hovingh, G. K., Khaw, K., Boekholdt, S. M., Witztum, J. L., et al. (2018) · Journal of clinical lipidology · doi:10.1016/j.jacl.2018.08.010 · Cited by 12
Inheritance of high and low HDL: mechanisms and management
Sourlas, A., & Kosmas, C. E. (2019) · Current Opinion in Lipidology · doi:10.1097/mol.0000000000000610 · Cited by 13
The Future of Lipid-Lowering Therapy
Zwol, W. H.-V., Rimbert, A., & Kuivenhoven, J. A. (2019) · Journal of Clinical Medicine · doi:10.3390/jcm8071085 · Cited by 12
Genetics and regulation of HDL metabolism
Kardassis, D., Thymiakou, E., & Chroni, A. (2021) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2021.159060 · Cited by 12
Olivieri, O., Chiariello, C., Martinelli, N., Castagna, A., Speziali, G., Girelli, D., Pizzolo, F., Bassi, A., Cecconi, D., Robotti, E., et al. (2018) · Clinical Chemistry and Laboratory Medicine (CCLM) · doi:10.1515/cclm-2017-1099 · Cited by 12
Diretriz Brasileira de Dislipidemias e Prevenção da Aterosclerose – 2025
Rached, F. H., Miname, M. H., Rocha, V. Z., Zimerman, A., Cesena, F. Y., Sposito, A. C., Santos, R. D., Behr, P. E. B., Bianco, H. T., Alves, R. J., et al. (2025) · Arquivos Brasileiros de Cardiologia · doi:10.36660/abc.20250640 · Cited by 42
Pooja, P., Sharma, V., Meena, R. N., Ray, K., Panjwani, U., Varshney, R. K., & Sethy, N. K. (2021) · Frontiers in Physiology · doi:10.3389/fphys.2021.730601 · Cited by 11
Genetic analysis of DNA methylation in dyslipidemia: a case-control study
Ma, Y.-T., Li, Y., Li, Y., Wei, X., Adi, D., Wang, Y.-T., Min, H., Liu, F., Chen, B.-D., Li, X.-M., et al. (2022) · PeerJ · doi:10.7717/peerj.14590 · Cited by 11
Borén, J., Packard, C. J., Nordestgaard, B. G., & Catapano, A. L. (2025) · European Heart Journal · doi:10.1093/eurheartj/ehaf214 · Cited by 12
Fibrate Pharmacogenomics: Expanding Past the Genome
House, J. S., & Motsinger‐Reif, A. A. (2020) · Pharmacogenomics · doi:10.2217/pgs-2019-0140 · Cited by 12
Role of Rare and Low-Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels
Wang, Z., Chen, H., Bartz, T. M., Bielak, L. F., Chasman, D. I., Feitosa, M. F., Franceschini, N., Guo, X., Lim, E., Noordam, R., et al. (2020) · Circulation Genomic and Precision Medicine · doi:10.1161/circgen.119.002772 · Cited by 12
Zhang, Y., & Karakikes, I. (2020) · Trends in Cardiovascular Medicine · doi:10.1016/j.tcm.2020.06.008 · Cited by 13
Xu, Q.-Y., Li, H., Cao, H., Pan, Q., & Fan, J. (2020) · BioMed Research International · doi:10.1155/2020/8869674 · Cited by 12
Who would benefit most from postprandial lipid screening?
Sciarrillo, C. M., Koemel, N. A., Keirns, B. H., Banks, N. F., Rogers, E. M., Rosenkranz, S. K., Kurti, S. P., Jenkins, N. D. M., & Emerson, S. R. (2021) · Clinical Nutrition · doi:10.1016/j.clnu.2021.04.022 · Cited by 12
Hermel, M., Lieberman, M., Slipczuk, L. N., Rana, J. S., & Virani, S. S. (2023) · Pharmaceutics · doi:10.3390/pharmaceutics15020459 · Cited by 11
Remnant cholesterol, vascular risk, and prevention of atherosclerosis
Pintó, X., Fanlo‐Maresma, M., Esteve-Luque, V., & Millán, J. (2023) · Clínica e Investigación en Arteriosclerosis (English Edition) · doi:10.1016/j.artere.2023.07.005 · Cited by 13
Targeted exonic sequencing of GWAS loci in the high extremes of the plasma lipids distribution
Patel, A. P., Peloso, G. M., Pirruccello, J. P., Johansen, C. T., Dubé, J. B., Larach, D. B., Ban, M. R., Dallinga‐Thie, G. M., Gupta, N., Boehnke, M., et al. (2016) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2016.04.011 · Cited by 11
Apolipoproteins A-I, B, and C-III and Obesity in Young Adult Cherokee
Wang, W., Blackett, P. R., Khan, S. H., & Lee, E. T. (2017) · Journal of Lipids · doi:10.1155/2017/8236325 · Cited by 11
Genética de la cardiopatía isquémica: del conocimiento actual a las implicaciones clínicas
Elosúa, R., & Sayols-Baixeras, S. (2017) · Revista Española de Cardiología · doi:10.1016/j.recesp.2017.02.033 · Cited by 11
Al‐Daghri, N. M., Torretta, E., Capitanio, D., Fania, C., Guerini, F. R., Sabico, S., Clerici, M., & Gelfi, C. (2017) · Scientific Reports · doi:10.1038/s41598-017-13020-z · Cited by 11
EDEM3 Modulates Plasma Triglyceride Level Through Its Regulation of LRP1 Expression
Xu, Y., Peloso, G. M., Nagai, T. H., Mizoguchi, T., Deik, A., Bullock, K. H., Lin, H., Musunuru, K., Yang, Q., Vasan, R. S., et al. (2019) · iScience · doi:10.1016/j.isci.2020.100973 · Cited by 11
Lightbourne, M., Wolska, A. T., Abel, B. S., Rother, K. I., Walter, M. F., Kushchayeva, Y. S., Auh, S., Shamburek, R. D., Remaley, A. T., Muniyappa, R., et al. (2020) · Journal of the Endocrine Society · doi:10.1210/jendso/bvaa191 · Cited by 11
Bayesian model comparison for rare-variant association studies
Venkataraman, G. R., DeBoever, C., Tanigawa, Y., Aguirre, M., Ioannidis, A. G., Mostafavi, H., Spencer, C. C. A., Poterba, T., Bustamante, C. D., Daly, M. J., et al. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.11.005 · Cited by 11
Novel therapeutic targets and agents for pediatric dyslipidemia
Sunil, B., Foster, C., Wilson, D. P., & Ashraf, A. P. (2021) · Therapeutic Advances in Endocrinology and Metabolism · doi:10.1177/20420188211058323 · Cited by 13
Lipoprotein sialylation in atherosclerosis: Lessons from mice
Yu, L., Peng, J., & Mineo, C. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.953165 · Cited by 12
Statin treatment: can genetics sharpen the focus?
Schunkert, H., & Samani, N. J. (2015) · The Lancet · doi:10.1016/s0140-6736(14)61931-0 · Cited by 11
Effects of bariatric surgery on hepatic and intestinal lipoprotein particle metabolism
Dash, S., Xiao, C., & Lewis, G. F. (2015) · Current Opinion in Lipidology · doi:10.1097/mol.0000000000000252 · Cited by 12
Diabetes in Population Isolates: Lessons from Greenland
Grarup, N., Moltke, I., Albrechtsen, A., & Hansen, T. F. (2015) · The Review of Diabetic Studies · doi:10.1900/rds.2015.12.320 · Cited by 12
Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study
Peloso, G. M., Lange, L. A., Varga, T. V., Nickerson, D. A., Smith, J. D., Griswold, M. E., Musani, S. K., Polfus, L. M., Mei, H., Gabriel, S., et al. (2016) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.116.001410 · Cited by 11
LDL, HDL, VLDL, and CVD Prevention: Lessons from Genetics?
Hewing, B., & Landmesser, U. (2015) · Current Cardiology Reports · doi:10.1007/s11886-015-0610-z · Cited by 11
Research advances in current drugs targeting hyperlipidemia (Review)
Zhao, H., Wang, Y., Li, Y., Cheng, R., & Chen, W. (2025) · Molecular Medicine Reports · doi:10.3892/mmr.2025.13623 · Cited by 11
Elbadawi, N. S., Sobih, M. H., Soliman, M. Z., Mostafa, M. A., Kazibwe, R., & Soliman, E. Z. (2024) · Journal of Clinical Medicine · doi:10.3390/jcm13164946 · Cited by 10
Maidman, S. D., Hegele, R. A., & Rosenson, R. S. (2024) · Current Atherosclerosis Reports · doi:10.1007/s11883-024-01258-8 · Cited by 13
Kalwick, M., & Roth, M. M. (2025) · Nutrients · doi:10.3390/nu17040659 · Cited by 13
Balling, M., Roepstorff, O. G., Gerds, T. A., Varbo, A., Mortensen, M. B., Langsted, A., Nordestgaard, B. G., & Afzal, S. (2025) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2025.120471 · Cited by 13
Wang, L., Sacks, F. M., Furtado, J. D., Ricks, M., Courville, A. B., & Sumner, A. E. (2014) · Nutrition & Metabolism · doi:10.1186/1743-7075-11-56 · Cited by 11
On Robust Association Testing for Quantitative Traits and Rare Variants
Wei, P., Cao, Y., Zhang, Y., Xu, Z., Kwak, I., Boerwinkle, E., & Pan, W. (2016) · G3 Genes Genomes Genetics · doi:10.1534/g3.116.035485 · Cited by 10
Zhou, J., Dong, X., Liu, Y., Jia, Y., Wang, Y., Zhou, J., Jiang, Z., & Chen, K. (2020) · Endocrine Journal · doi:10.1507/endocrj.ej19-0455 · Cited by 10
Development of Antisense Oligonucleotide Gapmers for the Treatment of Dyslipidemia and Lipodystrophy
Aslesh, T., & Yokota, T. (2020) · Methods in molecular biology · doi:10.1007/978-1-0716-0771-8_5 · Cited by 10
Translating genetic association of lipid levels for biological and clinical application
Crone, B., Krause, A., Hornsby, W., Willer, C. J., & Surakka, I. L. (2021) · Cardiovascular Drugs and Therapy · doi:10.1007/s10557-021-07156-4 · Cited by 10
Arai, T., Sekimoto, T., Koba, S., Mori, H., Matsukawa, N., Sakai, R., Yokota, Y., Sato, S., Tanaka, H., Masaki, R., et al. (2022) · Journal of clinical lipidology · doi:10.1016/j.jacl.2022.07.012 · Cited by 10
Reijnders, E., van der Laarse, A., Ruhaak, L. R., & Cobbaert, C. M. (2024) · Clinical Proteomics · doi:10.1186/s12014-024-09465-w · Cited by 10
Hansen, M. K., Mortensen, M. B., Olesen, K. K. W., Thrane, P. G., Thomsen, R. W., & Mæng, M. (2024) · European Journal of Preventive Cardiology · doi:10.1093/eurjpc/zwae119 · Cited by 11
Treatment of Hyperlipidemia Changes With Level of Kidney Function—Rationale
Ananthakrishnan, S., & Kaysen, G. A. (2016) · Advances in Chronic Kidney Disease · doi:10.1053/j.ackd.2015.12.004 · Cited by 9
Bien, S. A., Auer, P. L., Harrison, T. A., Qu, C., Connolly, C. M., Greenside, P., Chen, S., Berndt, S. I., Bezieau, S., Kang, H. M., et al. (2017) · PLoS ONE · doi:10.1371/journal.pone.0186518 · Cited by 10
Olivieri, O., Turcato, G., Moruzzi, S., Castagna, A., Girelli, D., Pizzolo, F., Friso, S., Sandri, M. F., Bassi, A., & Martinelli, N. (2019) · Journal of the American Heart Association · doi:10.1161/jaha.118.010973 · Cited by 10
Khounphinith, E., Yin, R., Cao, X., Huang, F., Wu, J., & Li, H. (2019) · International Journal of Medical Sciences · doi:10.7150/ijms.31729 · Cited by 9
Feingold, K. R. (2020) · Europe PMC (PubMed Central) · Cited by 10
Role of Genetics in Preventive Cardiology: Focused on Dyslipidemia
Lee, S. (2021) · Korean Circulation Journal · doi:10.4070/kcj.2021.0239 · Cited by 10
Adipocyte-specific tribbles pseudokinase 1 regulates plasma adiponectin and plasma lipids in mice
Ha, E. E., Quartuccia, G. I., Ling, R., Xue, C., Karikari, R. A., Hernández‐Ono, A., Hu, K. Y., Matias, C. V., Imam, R., Cui, J. G., et al. (2021) · Molecular Metabolism · doi:10.1016/j.molmet.2021.101412 · Cited by 11
A Novel Gene CDC27 Causes SLE and Is Associated With the Disease Activity
Shang, S., Zhou, Y., Chen, K., Chen, L., Li, P., Li, D., Cui, S., Zhang, M., Chen, X., & Li, Q. (2022) · Frontiers in Immunology · doi:10.3389/fimmu.2022.876963 · Cited by 10
Khera, A. V., Wang, M., Chaffin, M. D., Emdin, C. A., Samani, N. J., Schunkert, H., Watkins, H. C., McPherson, R., Erdmann, J., Elosúa, R., et al. (2022) · Circulation Genomic and Precision Medicine · doi:10.1161/circgen.121.003598 · Cited by 10
Miller, M. J. (2017) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.117.309493 · Cited by 10
How Genome Editing could be used in the Treatment of Cardiovascular Diseases
Musunuru, K. (2018) · Personalized Medicine · doi:10.2217/pme-2017-0078 · Cited by 10
Proteomic Determinants of Variation in Cholesterol Efflux: Observations from the Dallas Heart Study
Gangwar, A., Deodhar, S., Saldanha, S., Melander, O., Abbasi, F., Pearce, R. W., Collier, T. S., McPhaul, M. J., Furtado, J. D., Sacks, F. M., et al. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms242115526 · Cited by 10
Approach to Lipid Management in the Patient With Diabetes
Kim, S. J., & Subramanian, S. (2025) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaf018 · Cited by 12
Shared Genetic Aetiology of Coronary Artery Disease and Atherosclerotic Stroke—2015
Kessler, T., Erdmann, J., Dichgans, M., & Schunkert, H. (2015) · Current Atherosclerosis Reports · doi:10.1007/s11883-015-0498-5 · Cited by 9
High Density Lipoproteins: Is There a Comeback as a Therapeutic Target?
von Eckardstein, A. (2021) · Handbook of experimental pharmacology · doi:10.1007/164_2021_536 · Cited by 9
Zafar, M., Mirza, M. R., Awan, F. R., Tahir, M., Sultan, R., Hussain, M., Ahmed, B., Abbas, S., Larsen, M. R., Choudhary, M. I., et al. (2021) · Scientific Reports · doi:10.1038/s41598-021-02211-4 · Cited by 11
A New Modality in Dyslipidemia Treatment: Antisense Oligonucleotide Therapy
Kim, K., & Choi, S. H. (2022) · Journal of Lipid and Atherosclerosis · doi:10.12997/jla.2022.11.3.250 · Cited by 11
Li, J., Sun, H., Wang, Y., Liu, J., & Wang, G. (2023) · Lipids in Health and Disease · doi:10.1186/s12944-023-01797-0 · Cited by 9
Phenome-wide Mendelian randomization study of plasma triglyceride levels and 2600 disease traits
Park, J. K., Bafna, S., Forrest, I. S., Duffy, Á., Márquez‐Luna, C., Petrazzini, B. O., Vy, H. M. T., Jordan, D. M., Verbanck, M., Narula, J., et al. (2023) · eLife · doi:10.7554/elife.80560 · Cited by 9
Mak, M. C. E., Gurung, R., & Foo, R. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms241814057 · Cited by 10
Tokgözoğlu, L. S., Pirillo, A., & Catapano, A. L. (2023) · European Heart Journal · doi:10.1093/eurheartj/ehad485 · Cited by 9
Contemporary and Novel Therapeutic Options for Hypertriglyceridemia
Bell, D. A., & Watts, G. F. (2015) · Clinical Therapeutics · doi:10.1016/j.clinthera.2015.08.001 · Cited by 9
Insights from population-based analyses of plasma lipids across the allele frequency spectrum
Peloso, G. M., & Natarajan, P. (2018) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2018.01.003 · Cited by 10
Luo, M., Su, X., Yi, Y., Yang, Y., & Peng, D. (2018) · Lipids in Health and Disease · doi:10.1186/s12944-018-0777-6 · Cited by 10
Kim, A. S., Hakeem, R., Abdullah, A., Hooper, A. J., Tchan, M. C., Alahakoon, T. I., & Girgis, C. M. (2020) · Endocrinology Diabetes and Metabolism Case Reports · doi:10.1530/edm-19-0165 · Cited by 8
Cui, G., Tian, M., Hu, S., Wang, Y., & Wang, D. W. (2020) · Journal of Molecular and Cellular Cardiology · doi:10.1016/j.yjmcc.2020.05.003 · Cited by 10
Infrequent TRIB3 coding variants and coronary artery disease in type 2 diabetes
Prudente, S., Bailetti, D., Mendonça, C., Mannino, G. C., Fontana, A., Andreozzi, F., Hastings, T., Mercuri, L., Alberico, F., Basile, G., et al. (2015) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2015.07.030 · Cited by 9
JCL roundtable: Apolipoproteins as causative elements in vascular disease
Brown, W. V., Sacks, F. M., & Sniderman, A. D. (2015) · Journal of clinical lipidology · doi:10.1016/j.jacl.2015.10.003 · Cited by 9
Therapeutic inhibition of apoC-III for the treatment of hypertriglyceridemia
Bell, T. A., Graham, M. J., Baker, B. F., & Crooke, R. M. (2015) · Clinical Lipidology · doi:10.2217/clp.15.7 · Cited by 9
Toplak, H., Ludvik, B. H., Lechleitner, M., Dieplinger, H., Föger, B., Paulweber, B., Weber, T., Watschinger, B., Horn, S., Wascher, T. C., et al. (2016) · Wiener klinische Wochenschrift · doi:10.1007/s00508-016-0993-x · Cited by 9
Combined Dyslipidemia in Children and Adolescents
Kavey, R.-E. W. (2016) · Cited by 9
2018 George Lyman Duff Memorial Lecture
McPherson, R. (2019) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.119.311392 · Cited by 11
Biotechnology Approaches for the Treatment of Dyslipidemia
Parolini, C. (2020) · Cardiovascular Drugs and Therapy · doi:10.1007/s10557-020-07017-6 · Cited by 10
Genetics of Coronary Atherosclerosis
Aragam, K. G., & Kathiresan, S. (2017) · Elsevier eBooks · doi:10.1016/b978-0-323-42880-4.00003-0 · Cited by 9
NHLBI Strategic Visioning: Setting an Agenda Together for the NHLBI of 2025
Kiley, J. P., Mockrin, S. C., Lauer, M. S., Mensah, G. A., Hoots, K. W., Patel, Y., Cook, N. L., Patterson, A. P., & Gibbons, G. H. (2015) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201501-0194ed · Cited by 9
A statistical physics approach for disease module detectionPreprint
Wang, X., Qiao, D., Cho, M. H., DeMeo, D. L., Silverman, E. K., & Liu, Y. (2022) · Genome Research · doi:10.1101/gr.276690.122 · Cited by 7
Genetics of remnant cholesterol
Wulff, A. B., & Nordestgaard, B. G. (2025) · Current Opinion in Lipidology · doi:10.1097/mol.0000000000000991 · Cited by 8
ApoC-III as Therapeutic Target: Is it Primetime for Clinical Use?
Biolo, M., Galimberti, F., Portinari, C., Bertocco, S., Tosin, P., Casula, M., Previato, L., Zambon, S., Simioni, P., & Zambon, A. (2025) · Current Atherosclerosis Reports · doi:10.1007/s11883-025-01315-w · Cited by 9
ω-3 carboxylic acids for hypertriglyceridemia
Roth, E. M. (2014) · Expert Opinion on Pharmacotherapy · doi:10.1517/14656566.2015.991307 · Cited by 8
Genetics for the Identification of Lipid Targets Beyond PCSK9
Wang, L. R., & Hegele, R. A. (2016) · Canadian Journal of Cardiology · doi:10.1016/j.cjca.2016.11.003 · Cited by 8
Wang, J. Y., Kockx, M., Bolek, M., Lambert, T. J. R., Sullivan, D. J., Chow, V., & Kritharides, L. (2024) · Journal of Lipid Research · doi:10.1016/j.jlr.2024.100577 · Cited by 8
Tada, H., Kobayashi, J., Kawashiri, M., Miyashita, K., Nohara, A., Inazu, A., Nakajima, K., Mabuchi, H., & Yamagishi, M. (2016) · Lipids in Health and Disease · doi:10.1186/s12944-016-0238-z · Cited by 7
Sinning, D., Leistner, D. M., & Landmesser, U. (2016) · Herz · doi:10.1007/s00059-016-4430-8 · Cited by 9
Crandell, J. R., Tartaglia, C., & Tartaglia, J. (2016) · Postgraduate Medicine · doi:10.1080/00325481.2016.1241129 · Cited by 8
Uncovering the role of apolipoprotein C-III in insulin resistance
Aguilar-Recarte, D., Palomer, X., & Vázquez‐Carrera, M. (2020) · Clínica e Investigación en Arteriosclerosis · doi:10.1016/j.arteri.2020.09.003 · Cited by 8
Apolipoprotein genetic variants and hereditary amyloidosis
Jeraj, N., Hegele, R. A., & Berberich, A. J. (2020) · Current Opinion in Lipidology · doi:10.1097/mol.0000000000000736 · Cited by 8
Metadata
- 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 › Cardiology and Cardiovascular Medicine › 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
