The DOI matches its Crossref record; 25 of the 25 references it cites were found in a registry or an index.
Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease
Open accessAbstract
BACKGROUND: The discovery of low-frequency coding variants affecting the risk of coronary artery disease has facilitated the identification of therapeutic targets. METHODS: Through DNA genotyping, we tested 54,003 coding-sequence variants covering 13,715 human genes in up to 72,868 patients with coronary artery disease and 120,770 controls who did not have coronary artery disease. Through DNA sequencing, we studied the effects of loss-of-function mutations in selected genes. RESULTS: We confirmed previously observed significant associations between coronary artery disease and low-frequency missense variants in the genes LPA and PCSK9. We also found significant associations between coronary artery disease and low-frequency missense variants in the genes SVEP1 (p.D2702G; minor-allele frequency, 3.60%; odds ratio for disease, 1.14; P=4.2×10(-10)) and ANGPTL4 (p.E40K; minor-allele frequency, 2.01%; odds ratio, 0.86; P=4.0×10(-8)), which encodes angiopoietin-like 4. Through sequencing of ANGPTL4, we identified 9 carriers of loss-of-function mutations among 6924 patients with myocardial infarction, as compared with 19 carriers among 6834 controls (odds ratio, 0.47; P=0.04); carriers of ANGPTL4 loss-of-function alleles had triglyceride levels that were 35% lower than the levels among persons who did not carry a loss-of-function allele (P=0.003). ANGPTL4 inhibits lipoprotein lipase; we therefore searched for mutations in LPL and identified a loss-of-function variant that was associated with an increased risk of coronary artery disease (p.D36N; minor-allele frequency, 1.9%; odds ratio, 1.13; P=2.0×10(-4)) and a gain-of-function variant that was associated with protection from coronary artery disease (p.S447*; minor-allele frequency, 9.9%; odds ratio, 0.94; P=2.5×10(-7)). CONCLUSIONS: We found that carriers of loss-of-function mutations in ANGPTL4 had triglyceride levels that were lower than those among noncarriers; these mutations were also associated with protection from coronary artery disease. (Funded by the National Institutes of Health 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 source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“rare loss-of-function mutations in the lipoprotein lipase (LPL) gene are associated with higher plasma triglyceride levels and a higher risk of cardiovascular disease”
From Association of Triglyceride-Lowering LPL Variants and LDL-C–Lowering LDLR Variants With Risk of Coronary Heart Disease (2019) · cites this paper as [13]
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
“while rare, loss-of-function mutations in the APOC3, ANGPTL3, and ANGPTL4 genes, which encode for natural inhibitors of LPL, are associated with lower triglyceride levels and a corresponding lower risk of cardiovascular disease.[9][10][11][12][13]”
From Association of Triglyceride-Lowering LPL Variants and LDL-C–Lowering LDLR Variants With Risk of Coronary Heart Disease (2019) · cites this paper as [13]
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“ANGPTL4 loss-of-function mutations in humans are associated with lower plasma triglycerides (40, 56–58).”
From Regulation of lipoprotein metabolism by ANGPTL3, ANGPTL4, and ANGPTL8 (2021) · cites this paper as [57]
The cited source says what the claim attributes to it.
In the citing paper
“Importantly, multiple studies found that individuals deficient in one of these three ANGPTL proteins have a lower risk of cardiovascular disease (56, 57, 163–166).”
From Regulation of lipoprotein metabolism by ANGPTL3, ANGPTL4, and ANGPTL8 (2021) · cites this paper as [57]
In the citing paper
“large-scale genetic studies have shown that individuals carrying loss-of-function mutations in ANGPTL4 exhibit a lower risk of coronary artery disease compared to noncarriers [34,35].”
From Identifying novel drug targets for calcific aortic valve disease through Mendelian randomization (2025) · cites this paper as [34]
In the citing paper
“Mendelian randomization studies focused on variants in the genes encoding apoAV, apoCIII, lipoprotein lipase (LpL) and the angiopoietin-like proteins 3, 4, and 8 (ANGPTL3, ANGPTL4, and ANGPTL8) have been highly informative.29–35”
In the citing paper
“Similarly, heterozygous LOF variants in ANGPTL311 and ANGPTL412 genes are associated with reductions both in plasma TG and ASCVD risk.”
From Clinical review on triglycerides (2020) · cites this paper as [12]
In the citing paper
“Genetically attenuated ANGPTL4 is associated with favourable lipid and glycaemia profiles, and with reduced ASCVD risk.12,99”
From Clinical review on triglycerides (2020) · cites this paper as [12]
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 [29]
In the citing paper
“Like mice, humans deficient in ANGPTL3, ANGPTL4, or ANGPTL8 have lower plasma triglycerides (56–58, 163–166).”
From Regulation of lipoprotein metabolism by ANGPTL3, ANGPTL4, and ANGPTL8 (2021) · cites this paper as [57]
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
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
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
Abifadel, M., Varret, M., Rabès, J.-P., Allard, D., Ouguerram, K., Devillers, M., Cruaud, C., Benjannet, S., Wickham, L., Erlich, D., et al. (2003) · Nature Genetics · doi:10.1038/ng1161 · Cited by 2,985
A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease
the CARDIoGRAMplusC4D Consortium (2015) · Nature Genetics · doi:10.1038/ng.3396 · Cited by 2,447
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk
The International Consortium for Blood Pressure Genome-Wide Association Studies (2011) · Nature · doi:10.1038/nature10405 · Cited by 2,033
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
Cardiogenics, Schunkert, H., the CARDIoGRAM Consortium, König, I. R., Kathiresan, S., Reilly, M. P., Assimes, T. L., Holm, H., Preuss, M., Stewart, A. F. R., et al. (2011) · Nature Genetics · doi:10.1038/ng.784 · Cited by 1,866
Large-scale association analysis identifies new risk loci for coronary artery disease
The CARDIoGRAMplusC4D Consortium, Deloukas, P., DIAGRAM Consortium, CARDIOGENICS Consortium, MuTHER Consortium, Wellcome Trust Case Control Consortium, Kanoni, S., Willenborg, C., Farrall, M., Assimes, T. L., et al. (2013) · Nature Genetics · doi:10.1038/ng.2480 · Cited by 1,614
Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease
The TG and HDL Working Group of the Exome Sequencing Project, N. H. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1307095 · Cited by 1,071
Loss-of-Function Mutations in APOC3 and Risk of Ischemic Vascular Disease
Jørgensen, A. B., Frikke-Schmidt, R., Nordestgaard, B. G., & Tybjærg-Hansen, A. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1308027 · Cited by 919
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
Do, R., Stitziel, N. O., Won, H.-H., Jørgensen, A. B., Duga, S., Angelica Merlini, P., Kiezun, A., Farrall, M., Goel, A., Zuk, O., et al. (2015) · Nature · doi:10.1038/nature13917 · Cited by 650
A comprehensive 1000 Genomes-based genome-wide association meta-analysis of coronary artery disease
Nikpay, M., Goel, A., Won, H., Hall, L. M., Willenborg, C., Kanoni, S., Saleheen, D., Kyriakou, T., Nelson, C. P., Hopewell, J. C., et al. (2015) · EUR Research Repository (Erasmus University Rotterdam) · Cited by 581
Flagged first, then by citations
Cited by
Sorted by citations
Items 101–200 of 497
Kim, H., Westerman, K. E., Smith, K., Chiou, J., Cole, J. B., Majarian, T. D., von Grotthuss, M., Kwak, S. H., Kim, J., Mercader, J. M., et al. (2022) · Diabetologia · doi:10.1007/s00125-022-05848-6 · Cited by 90
Kersten, S. (2021) · Current Opinion in Lipidology · doi:10.1097/mol.0000000000000789 · Cited by 92
Angiopoietin-like 4 directs uptake of dietary fat away from adipose during fasting
Cushing, E. M., Chi, X., Sylvers, K. L., Shetty, S. K., Potthoff, M. J., & Davies, B. S. J. (2017) · Molecular Metabolism · doi:10.1016/j.molmet.2017.06.007 · Cited by 88
Genome-wide association studies of cardiovascular disease
Walsh, R., Jurgens, S. J., Erdmann, J., & Bezzina, C. R. (2023) · Physiological Reviews · doi:10.1152/physrev.00024.2022 · Cited by 95
Nomura, A., Won, H., Khera, A. V., Takeuchi, F., Ito, K., McCarthy, S., Emdin, C. A., Klarin, D. M., Natarajan, P., Zekavat, S. M., et al. (2017) · Circulation Research · doi:10.1161/circresaha.117.311145 · Cited by 86
Genetic variability in the absorption of dietary sterols affects the risk of coronary artery disease
Helgadóttir, A., Þorleifsson, G., Alexandersson, K. F., Tragante, V., Þorsteinsdóttir, M., Eiríksson, F. F., Grétarsdóttir, S., Björnsson, E., Magnússon, Ó. Þ., Sveinbjörnsson, G., et al. (2020) · European Heart Journal · doi:10.1093/eurheartj/ehaa531 · Cited by 84
Ruscica, M., Zimetti, F., Adorni, M. P., Sirtori, C. R., Lupo, M. G., & Ferri, N. (2020) · Pharmacological Research · doi:10.1016/j.phrs.2020.104653 · Cited by 85
Glicksberg, B. S., Johnson, K. W., & Dudley, J. T. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy114 · Cited by 84
Endothelial cell–cardiomyocyte crosstalk in diabetic cardiomyopathy
Wan, A., & Rodrigues, B. B. (2016) · Cardiovascular Research · doi:10.1093/cvr/cvw159 · Cited by 85
Fialkow, J. (2016) · American Journal of Cardiovascular Drugs · doi:10.1007/s40256-016-0170-7 · Cited by 80
Stahel, P., Xiao, C., Hegele, R. A., & Lewis, G. F. (2018) · Canadian Journal of Cardiology · doi:10.1016/j.cjca.2017.12.007 · Cited by 75
Lotta, L. A., Stewart, I. D., Sharp, S. J., Day, F. R., Burgess, S., Luan, J., Bowker, N., Cai, L., Li, C., Wittemans, L. B. L., et al. (2018) · JAMA Cardiology · doi:10.1001/jamacardio.2018.2866 · Cited by 72
Using the Plasma Proteome for Risk Stratifying Patients with Pulmonary Arterial Hypertension
Rhodes, C. J., Wharton, J., Swietlik, E. M., Harbaum, L., Girerd, B., Coghlan, G., Lordan, J., Church, C., Pepke-Zaba, J., Toshner, M. R., et al. (2022) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.202105-1118oc · Cited by 78
Shah, A. M., Myhre, P. L., Arthur, V., Dorbala, P., Rasheed, H., Buckley, L. F., Claggett, B. L., Liu, G., Ma, J., Nguyen, N. Q., et al. (2024) · Nature Communications · doi:10.1038/s41467-023-44680-3 · Cited by 89
Ντάλλα, Ι., Kanoni, S., Zeng, L., Giannakopoulou, O., Danesh, J., Watkins, H. C., Samani, N. J., Deloukas, P., & Schunkert, H. (2019) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2019.03.512 · Cited by 79
Kristensen, K. K., Leth-Espensen, K. Z., Mertens, H. D. T., Birrane, G., Meiyappan, M., Olivecrona, G., Jørgensen, T. J. D., Young, S. G., & Ploug, M. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1920202117 · Cited by 72
Zhang, L., Wang, Y., Li, Q., & Wu, J. (2022) · BMC Medicine · doi:10.1186/s12916-022-02617-5 · Cited by 77
Heterozygous ABCG5 Gene Deficiency and Risk of Coronary Artery Disease
Nomura, A., Emdin, C. A., Won, H., Peloso, G. M., Natarajan, P., Ardissino, D., Danesh, J., Schunkert, H., Correa, A., Bown, M. J., et al. (2020) · Circulation Genomic and Precision Medicine · doi:10.1161/circgen.119.002871 · Cited by 77
Ortiz‐Fernández, L., Saruhan‐Direskeneli, G., Alıbaz-Öner, F., Kaymaz‐Tahra, S., Coit, P., Kong, X., Kiprianos, A. P., Maughan, R. T., Aydın, S. Z., Aksu, K., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.11.014 · Cited by 79
Angiopoietin-like 4 Is a Wnt Signaling Antagonist that Promotes LRP6 Turnover
Kirsch, N., Chang, L.-S., Koch, S., Glinka, A., Dolde, C. E., Colozza, G., Benitez, M. D. J., Robertis, E. M. D., & Niehrs, C. (2017) · Developmental Cell · doi:10.1016/j.devcel.2017.09.011 · Cited by 69
Dijk, W., Ruppert, P. M. M., Oost, L. J., & Kersten, S. (2018) · Journal of Biological Chemistry · doi:10.1074/jbc.ra118.002426 · Cited by 72
Generoso, G., Janovsky, C. C. P. S., & Bittencourt, M. S. (2019) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0000000000000468 · Cited by 72
Identification and Characterization of Fenofibrate-Induced Liver Injury
Ahmad, J., Odin, J. A., Hayashi, P. H., Chalasani, N., Fontana, R. J., Barnhart, H. X., Cirulli, E. T., Kleiner, D. E., & Hoofnagle, J. H. (2017) · Digestive Diseases and Sciences · doi:10.1007/s10620-017-4812-7 · Cited by 70
Aragam, K. G., Jiang, T., Goel, A., Kanoni, S., Wolford, B. N., Weeks, E. M., Wang, M., Hindy, G., Zhou, W., Grace, C., et al. (2021) · medRxiv · doi:10.1101/2021.05.24.21257377 · Cited by 67
Triglyceride metabolism and angiopoietin-like proteins in lipoprotein lipase regulation
Li, J., Li, L., Guo, D., Li, S., Zeng, Y., Liu, C., Fu, R., Huang, M., & Xie, W. (2020) · Clinica Chimica Acta · doi:10.1016/j.cca.2019.12.029 · Cited by 67
Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis
Natarajan, P., Bis, J. C., Bielak, L. F., Cox, A. J., Dörr, M., Feitosa, M. F., Franceschini, N., Guo, X., Hwang, S.-J., Isaacs, A., et al. (2016) · Circulation: Cardiovascular Genetics · doi:10.1161/circgenetics.116.001572 · Cited by 66
Structure of lipoprotein lipase in complex with GPIHBP1
Arora, R., Nimonkar, A. V., Baird, D., Wang, C., Chiu, C.-H., Horton, P. A., Hanrahan, S., Cubbon, R. M., Weldon, S. C., Tschantz, W. R., et al. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1820171116 · Cited by 66
Morelli, M. B., Chavez, C., & Santulli, G. (2019) · Expert Opinion on Therapeutic Targets · doi:10.1080/14728222.2020.1707806 · Cited by 64
SVEP1 is a human coronary artery disease locus that promotes atherosclerosis
Jung, I., Elenbaas, J. S., Alisio, A. E., Santana, K., Young, E. P., Kang, C. J., Kachroo, P., Lavine, K. J., Razani, B., Mecham, R. P., et al. (2021) · Science Translational Medicine · doi:10.1126/scitranslmed.abe0357 · Cited by 66
Abu‐Farha, M., Cherian, P., Qaddoumi, M. G., Al‐Khairi, I., Devarajan, S., Alanbaei, M., & Abubaker, J. A. (2018) · Lipids in Health and Disease · doi:10.1186/s12944-018-0681-0 · Cited by 63
Dual role of ANGPTL4 in inflammation
Zuo, Y., He, Z., Chen, Y., & Dai, L. (2023) · Inflammation Research · doi:10.1007/s00011-023-01753-9 · Cited by 64
Triglycerides and residual risk
Vallejo‐Vaz, A. J., Corral, P., Schreier, L. E., & Ray, K. K. (2020) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0000000000000530 · Cited by 60
Nordestgaard, L. T., Christoffersen, M., Afzal, S., Nordestgaard, B. G., Tybjærg‐Hansen, A., & Frikke‐Schmidt, R. (2020) · Clinical Chemistry · doi:10.1093/clinchem/hvaa269 · Cited by 64
Using the plasma proteome for risk stratifying patients with pulmonary arterial hypertension
Rhodes, C., Wharton, J., Swietlik, E., Harbaum, L., Girerd, B., Coghlan, G., Lordan, J., Church, C., Pepke-Zaba, J., Toshner, M., et al. (2021) · Spiral (Imperial College London) · Cited by 60
Alexopoulos, A., Qamar, A., Hutchins, K., Crowley, M. J., Batch, B. C., & Guyton, J. R. (2019) · Current Diabetes Reports · doi:10.1007/s11892-019-1136-3 · Cited by 62
Björnsson, E., Þorleifsson, G., Helgadóttir, A., Guðnason, Þ., Guðbjartsson, T., Andersen, K. K., Grétarsdóttir, S., Ólafsson, Í., Tragante, V., Ólafsson, Ó., et al. (2019) · JAMA Cardiology · doi:10.1001/jamacardio.2019.2946 · Cited by 59
Obesity and Cardiovascular Disease: The Emerging Role of Inflammation
Khafagy, R. T. M., & Dash, S. (2021) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2021.768119 · Cited by 69
Toth, P. P., Philip, S., HULL, M. L., & Granowitz, C. B. (2019) · Mayo Clinic Proceedings · doi:10.1016/j.mayocp.2019.03.028 · Cited by 60
Hansen, S. E. J., Madsen, C. M., Varbo, A., Tybjærg‐Hansen, A., & Nordestgaard, B. G. (2020) · Clinical Gastroenterology and Hepatology · doi:10.1016/j.cgh.2020.08.016 · Cited by 59
McQueen, A. E., Kanamaluru, D., Yan, K., Gray, N. E., Wu, L., Li, M.-L., Chang, A., Hasan, A., Stifler, D., Koliwad, S. K., et al. (2017) · Journal of Biological Chemistry · doi:10.1074/jbc.m117.803973 · Cited by 56
Ward, M. C., Banovich, N. E., Sarkar, A., Stephens, M., & Gilad, Y. (2021) · eLife · doi:10.7554/elife.57345 · Cited by 54
Cho, D. I., Ahn, M. J., Cho, H. H., Cho, M., Jun, J. H., Kang, B. G., Lim, S. Y., Yoo, S. J., Kim, M. R., Kim, H.-S., et al. (2023) · Experimental & Molecular Medicine · doi:10.1038/s12276-023-00937-x · Cited by 55
ADAMTS-7 Modulates Atherosclerotic Plaque Formation by Degradation of TIMP-1
Sharifi, M. A., Wierer, M., Dang, T. A., Milic, J., Moggio, A., Sachs, N., von Scheidt, M., Hinterdobler, J., Müller, P., Werner, J., et al. (2023) · Circulation Research · doi:10.1161/circresaha.123.322737 · Cited by 55
Structures of Angptl3 and Angptl4, modulators of triglyceride levels and coronary artery disease
Biterova, E., Esmaeeli, M., Alanen, H. I., Saaranen, M., & Ruddock, L. W. (2018) · Scientific Reports · doi:10.1038/s41598-018-25237-7 · Cited by 53
Toth, P. P., Fazio, S., Wong, N. D., HULL, M. L., & Nichols, G. A. (2019) · Diabetes Obesity and Metabolism · doi:10.1111/dom.13921 · Cited by 59
Rocha, N. A., East, C., Zhang, J., & McCullough, P. A. (2017) · Current Atherosclerosis Reports · doi:10.1007/s11883-017-0697-3 · Cited by 54
Coding and regulatory variants are associated with serum protein levels and disease
Emilsson, V., Guðmundsdóttir, V., Guðjónsson, A., Jónmundsson, Þ., Jonsson, B. G., Karim, M. A., Ilkov, M., Staley, J. R., Gudmundsson, E. F., Launer, L. J., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-28081-6 · Cited by 61
Target Populations for Novel Triglyceride-Lowering Therapies
Nordestgaard, A. T., Tybjærg-Hansen, A., Mansbach, H., Kersten, S., Nordestgaard, B. G., & Rosenson, R. S. (2025) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2025.02.035 · Cited by 54
Proteomic cardiovascular risk assessment in chronic kidney disease
Deo, R., Dubin, R. F., Ren, Y., Murthy, A. C., Wang, J., Zheng, H., Zheng, Z., Feldman, H. I., Shou, H., Coresh, J., et al. (2023) · European Heart Journal · doi:10.1093/eurheartj/ehad115 · Cited by 57
Kizilkaya, H. S., Sørensen, K. V., Kibsgaard, C. J., Gasbjerg, L. S., Hauser, A. S., Sparre-Ulrich, A. H., Grarup, N., & Rosenkilde, M. M. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.749607 · Cited by 52
Cost-Effectiveness of Lipid-Lowering Treatments in Young Adults
Kohli-Lynch, C. N., Bellows, B. K., Zhang, Y., Spring, B. J., Kazi, D. S., Pletcher, M. J., Vittinghoff, E., Allen, N. B., & Moran, A. E. (2021) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2021.08.065 · Cited by 54
Common pitfalls in drug target Mendelian randomization and how to avoid them
Gill, D., Dib, M., Cronjé, H. T., Karhunen, V., Woolf, B. A. R., Gagnon, É., Daghlas, I., Nyberg, M., Drakeman, D. L., & Burgess, S. (2024) · BMC Medicine · doi:10.1186/s12916-024-03700-9 · Cited by 51
Triglycerides, Atherosclerosis, and Cardiovascular Outcome Studies: Focus on Omega-3 Fatty Acids
Handelsman, Y., & Shapiro, M. D. (2016) · Endocrine Practice · doi:10.4158/ep161445.ra · Cited by 55
Arca, M., Borghi, C., Pontremoli, R., Ferrari, G. M. D., Colivicchi, F., Desideri, G., & Temporelli, P. L. (2017) · Nutrition Metabolism and Cardiovascular Diseases · doi:10.1016/j.numecd.2017.11.001 · Cited by 54
Impact of Genes and Environment on Obesity and Cardiovascular Disease
Heianza, Y., & Qi, L. (2018) · Endocrinology · doi:10.1210/en.2018-00591 · Cited by 54
Genetics of coronary artery disease in the light of genome-wide association studies
Schunkert, H., von Scheidt, M., Kessler, T., Stiller, B., Zeng, L., & Vilne, B. (2018) · Clinical Research in Cardiology · doi:10.1007/s00392-018-1324-1 · Cited by 52
The FANC/BRCA Pathway Releases Replication Blockades by Eliminating DNA Interstrand Cross-Links
Renaudin, X., & Rosselli, F. (2020) · Genes · doi:10.3390/genes11050585 · Cited by 59
Genome sequencing unveils a regulatory landscape of platelet reactivity
Keramati, A. R., Chen, M., Rodriguez, B. A. T., Yanek, L. R., Bhan, A., Gaynor, B. J., Ryan, K. A., Brody, J. A., Zhong, X. Y., Wei, Q., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-23470-9 · Cited by 52
Zhao, J. V., Kwok, M. K., & Schooling, C. M. (2018) · American Journal of Clinical Nutrition · doi:10.1093/ajcn/nqy362 · Cited by 49
Evinacumab, an ANGPTL3 Inhibitor, in the Treatment of Dyslipidemia
Sosnowska, B., Adach, W., Surma, S., Rosenson, R. S., & Banach, M. (2022) · Journal of Clinical Medicine · doi:10.3390/jcm12010168 · Cited by 50
The Influence of Big (Clinical) Data and Genomics on Precision Medicine and Drug Development
Denny, J. C., Driest, S. L. V., Wei, W., & Roden, D. M. (2017) · Clinical Pharmacology & Therapeutics · doi:10.1002/cpt.951 · Cited by 54
Chait, A. (2022) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2022.02.010 · Cited by 50
Cauci, S., Francescato, M. P., & Curcio, F. (2016) · Sports Medicine · doi:10.1007/s40279-016-0534-9 · Cited by 49
Cardiovascular risk in patients with alpha-1-antitrypsin deficiency
on behalf of the COSYCONET investigators, Fähndrich, S., Biertz, F., Karch, A., Kleibrink, B. E., Koch, A., Teschler, H., Welte, T., Kauczor, H., Janciauskiene, S. M., et al. (2017) · Respiratory Research · doi:10.1186/s12931-017-0655-1 · Cited by 50
Trégouët, D., & Morange, P. (2017) · British Journal of Haematology · doi:10.1111/bjh.15004 · Cited by 48
Lempiäinen, H., Brænne, I., Michoel, T., Tragante, V., Vilne, B., Webb, T. R., Kyriakou, T., Eichner, J., Zeng, L., Willenborg, C., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-20721-6 · Cited by 50
Chen, L., Liu, D., Yi, X., Qi, L., Tian, X., Sun, B., Dong, Q., Han, Z., Li, Q., Song, T., et al. (2020) · Cell Death and Disease · doi:10.1038/s41419-020-2535-8 · Cited by 48
Li, L., Chen, Z., von Scheidt, M., Li, S., Steiner, A., Güldener, U., Koplev, S., Ma, A., Hao, K., Pan, C., et al. (2022) · Basic Research in Cardiology · doi:10.1007/s00395-022-00917-8 · Cited by 48
Helkkula, P., Kiiskinen, T., Havulinna, A. S., Karjalainen, J., Koskinen, S., Salomaa, V., Daly, M. J., Palotie, A., Surakka, I., Ripatti, S., et al. (2021) · PLOS Genetics · doi:10.1371/journal.pgen.1009501 · Cited by 47
Xu, J., Zhou, H., Cheng, Y., & Xiang, G. (2022) · The EPMA Journal · doi:10.1007/s13167-022-00289-y · Cited by 45
Johansen, M. Ø., Vedel‐Krogh, S., Nielsen, S. F., Afzal, S., Smith, G. D., & Nordestgaard, B. G. (2021) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.120.315639 · Cited by 43
The Genetic Architecture of Coronary Artery Disease: Current Knowledge and Future Opportunities
Hartiala, J., Schwartzman, W. S., Gabbay, J., Ghazalpour, A., Bennett, B. J., & Allayee, H. (2017) · Current Atherosclerosis Reports · doi:10.1007/s11883-017-0641-6 · Cited by 44
Gregson, C. L., Bergen, D. J. M., Leo, P., Sessions, R. B., Wheeler, L., Hartley, A., Youlten, S., Croucher, P. I., McInerney-Leo, A. M., Fraser, W., et al. (2020) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.3875 · Cited by 44
A review of the multifunctionality of angiopoietin-like 4 in eye disease
Yang, X., Cheng, Y., & Su, G. (2018) · Bioscience Reports · doi:10.1042/bsr20180557 · Cited by 42
The Regulation of Triacylglycerol Metabolism and Lipoprotein Lipase Activity
Wen, Y., Chen, Y., & Konrad, R. J. (2022) · Advanced Biology · doi:10.1002/adbi.202200093 · Cited by 43
Smooth muscle cells in atherosclerosis: essential but overlooked translational perspectives
Azar, P., Jarr, K.-U., Gomez, D. A., Jørgensen, H. F., Leeper, N. J., & Bochaton‐Piallat, M. (2025) · European Heart Journal · doi:10.1093/eurheartj/ehaf337 · Cited by 45
Gutgsell, A. R., Ghodge, S. V., Bowers, A. A., & Neher, S. B. (2018) · Journal of Biological Chemistry · doi:10.1074/jbc.ra118.005932 · Cited by 41
Severe hypertriglyceridemia: Existing and emerging therapies
Malick, W. A., Do, R., & Rosenson, R. S. (2023) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2023.108544 · Cited by 45
De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy
Guey, S., Grangeon, L., Brunelle, F., Bergametti, F., Amiel, J., Lyonnet, S., Delaforge, A., Arnould, M., Desnous, B., Bellesme, C., et al. (2017) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2016-104432 · Cited by 40
Emdin, C. A., Haas, M., Khera, A. V., Aragam, K. G., Chaffin, M. D., Jiang, L., Wei, W., Feng, Q., Karjalainen, J. M., Havulinna, A. S., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/594523 · Cited by 40
Shadrina, A. S., Shashkova, T., Torgasheva, A. A., Sharapov, S., Klarić, L., Pakhomov, E., Alexeev, D. G., Wilson, J. F., Tsepilov, Y. A., Joshi, P. K., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-67001-w · Cited by 38
Regulation of plasma triglyceride partitioning by adipose-derived ANGPTL4 in mice
Spitler, K. M., Shetty, S. K., Cushing, E. M., Sylvers-Davie, K. L., & Davies, B. S. J. (2021) · Scientific Reports · doi:10.1038/s41598-021-87020-5 · Cited by 42
Natarajan, P., Pampana, A., Graham, S. E., Ruotsalainen, S., Perry, J. A., de Vries, P. S., Broome, J., Pirruccello, J. P., Honigberg, M. C., Aragam, K. G., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-22339-1 · Cited by 36
Bittencourt, M. S., Santos, R. D., Staniak, H. L., Sharovsky, R., Kondapally, R., Vallejo‐Vaz, A. J., Ray, K. K., Benseñor, I. M., & Lotufo, P. A. (2017) · The American Journal of Cardiology · doi:10.1016/j.amjcard.2017.01.033 · Cited by 38
Targeting apoC-III and ANGPTL3 in the treatment of hypertriglyceridemia
Nurmohamed, N. S., Dallinga‐Thie, G. M., & Stroes, E. S. G. (2020) · Expert Review of Cardiovascular Therapy · doi:10.1080/14779072.2020.1768848 · Cited by 42
Pathogenesis of premature coronary artery disease: Focus on risk factors and genetic variants
Wang, H., Liu, Z., Shao, J., Jiang, M., Lu, X.-C., Lin, L., Wang, L., Xu, Q., Zhang, H. S., Li, X., et al. (2020) · Genes & Diseases · doi:10.1016/j.gendis.2020.11.003 · Cited by 45
Aptamer Proteomics for Biomarker Discovery in Heart Failure With Reduced Ejection Fraction
Zhang, L., Cunningham, J. W., Claggett, B. L., Jacob, J., Mendelson, M., Serrano‐Fernández, P., Kaiser, S., Yates, D. P., Healey, M. L., Chen, C., et al. (2022) · Circulation · doi:10.1161/circulationaha.122.061481 · Cited by 38
Chellan, B., Rojas, E., Zhang, C., & Bowman, M. A. H. (2018) · Scientific Reports · doi:10.1038/s41598-018-30073-w · Cited by 37
Role of the Gut in Diabetic Dyslipidemia
Stahel, P., Xiao, C., Nahmias, A., & Lewis, G. F. (2020) · Frontiers in Endocrinology · doi:10.3389/fendo.2020.00116 · Cited by 39
ANGPTL2 is associated with an increased risk of cardiovascular events and death in diabetic patients
Gellen, B., Thorin‐Trescases, N., Sosner, P., Gand, E., Saulnier, P., Ragot, S., Fraty, M., Laugier, S., Ducrocq, G., Montaigne, D., et al. (2016) · Diabetologia · doi:10.1007/s00125-016-4066-5 · Cited by 36
SVEP 1 plays a crucial role in epidermal differentiation
Samuelov, L., Li, Q., Bochner, R., Najor, N. A., Albrecht, L. V., Malchin, N., Goldsmith, T., Grafi‐Cohen, M., Vodo, D., Fainberg, G., et al. (2016) · Experimental Dermatology · doi:10.1111/exd.13256 · Cited by 39
Functional investigation of the coronary artery disease gene SVEP1
Winkler, M., Müller, P., Sharifi, A., Wobst, J., Winter, H., Mokry, M., Ma, L.-J., van der Laan, S., Pang, S.-C., Miritsch, B., et al. (2020) · Basic Research in Cardiology · doi:10.1007/s00395-020-00828-6 · Cited by 32
Thorin, É., Labbé, P., Lambert, M., Mury, P., Dagher, O., Miquel, G., & Thorin‐Trescases, N. (2023) · Canadian Journal of Cardiology · doi:10.1016/j.cjca.2023.06.002 · Cited by 37
Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82
Erjavec, S., Gelfman, S., Abdelaziz, A. R., Lee, E. Y., Monga, I., Alkelai, A., Ionita‐Laza, I., Petukhova, L., & Christiano, A. M. (2022) · Nature Communications · doi:10.1038/s41467-022-28343-3 · Cited by 35
Targeting ApoC-III to Reduce Coronary Disease Risk
Khetarpal, S. A., Qamar, A., Millar, J. S., & Rader, D. J. (2016) · Current Atherosclerosis Reports · doi:10.1007/s11883-016-0609-y · Cited by 34
Dai, L., Xie, Y., Zhang, W., Zhong, X., Wang, M., Jiang, H., He, Z., Liu, X., Zeng, H., & Wang, H. (2021) · Frontiers in Endocrinology · doi:10.3389/fendo.2021.705154 · Cited by 34
Oteng, A., Bhattacharya, A., Brodesser, S., Qi, L., Tan, N. S., & Kersten, S. (2017) · Journal of Lipid Research · doi:10.1194/jlr.m074278 · Cited by 35
Pellegata, N. S., Berriel Diaz, M., Rohm, M., & Herzig, S. (2022) · Cancer and Metastasis Reviews · doi:10.1007/s10555-022-10058-y · Cited by 33
Association of Triglyceride-Related Genetic Variants With Mitral Annular Calcification
Afshar, M. S., Luk, K., Do, R., Dufresne, L., Owens, D. S., Harris, T. B., Peloso, G. M., Kerr, K. F., Wong, Q., Smith, A. V., et al. (2017) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2017.04.051 · Cited by 33
Silbernagel, G., Chen, Y., Li, H., Lemen, D., Wen, Y., Zhen, Y., Rief, M., Kleber, M. E., Delgado, G., Sarzynski, M. A., et al. (2024) · Circulation · doi:10.1161/circulationaha.124.069272 · Cited by 30
Metadata
- Authors
- Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators
- Corresponding author
- Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2016-03-24
- Volume
- 374
- Issue
- 12
- Pages
- 1134-1144
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC4850838
- OpenAlex
- W2294822677
- Cited by
- 493
- References
- 25
- Citations by year
- 2026: 16 · 2025: 31 · 2024: 26 · 2023: 26 · 2022: 50 · 2021: 63 · 2020: 58 · 2019: 52 · 2018: 58 · 2017: 69 · 2016: 44
- FWCI
- 60.83
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Discovery Research Portal (University of Dundee) (publishedVersion, other-oa)
- Archive ouverte UNIGE (University of Geneva) (publishedVersion, other-oa)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- ENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) (acceptedVersion)
- Universitätsbibliographie, Universität Duisburg-Essen (submittedVersion)
- Apollo (University of Cambridge) (submittedVersion)
- Digital Commons@Becker (Washington University School of Medicine) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Figshare (submittedVersion)
- IrInSubria (University of Insubria) (submittedVersion)
- Leicester Research Archive (University of Leicester) (submittedVersion, other-oa)
- Lund University Publications (Lund University) (submittedVersion)
- mediaTUM (Technical University of Munich) (submittedVersion)
- GoeScholar The Publication Server of the Georg-August-Universität Göttingen (Georg-August-Universität Göttingen) (submittedVersion, cc-by)
- Pure Amsterdam UMC (submittedVersion, other-oa)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- Research Portal (Queen's University Belfast) (submittedVersion)
- PuSH - Publication Server of Helmholtz Zentrum München (submittedVersion)
- OPUS (Augsburg University) (submittedVersion)
- Archive ouverte UNIGE (University of Geneva) (submittedVersion, cc-by)
- Utrecht University Repository (Utrecht University) (submittedVersion, other-oa)
- Funders
- American Heart Association
- Massachusetts General Hospital (R01HL107816)
- Foundation for Barnes-Jewish Hospital
- Donovan Family Foundation
- University of Dundee
- Queen Mary University of London
- Wellcome Trust (098381, 090532, 090532/Z/09/Z, 090532/Z/09/)
- Deutsches Zentrum für Herz-Kreislaufforschung
- Massachusetts Medical Society
- NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research
- National Institute for Health and Care Research (NF-SI-0512-10165, NF-SI-0611-10170, NF-SI-0611-10099)
- British Heart Foundation (090532/Z/09/Z, RG/13/13/30194, RG/08/014/24067, RG/14/5/30893)
- University of Leicester
- University College London
- University of Oxford
- European Commission (EU-FP7, 261123, 098381)
- University of Glasgow
- Deutsche Forschungsgemeinschaft (SFB1123)
- Fondation Leducq (12CVD02)
- Universiteit van Amsterdam
- Bundesministerium für Bildung und Forschung
- Ministero della Salute
- Novo Nordisk Fonden (NNF16OC0021370, NNF14OC0011049, NNF15OC0016320)
- Exzellenzclusters Entzündungsforschung
- National Institutes of Health (UL1TR001070)
- Medical Research Council (MC_UU_12015/1, MR/N005813/1, MC_PC_13048, EU FP7, MR/L003120/1)
- Barts and The London School of Medicine and Dentistry
- National Heart, Lung, and Blood Institute (R01HL127564, K08HL114642, K01HL125751, R01HL107816)
- National Human Genome Research Institute (U01HG008672)
- National Cancer Institute (R25CA094880)
- National Center for Advancing Translational Sciences
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipoproteins and Cardiovascular Health
- Keywords
- coronary artery disease, ANGPTL4, lipoprotein lipase, SVEP1, missense mutations, loss-of-function mutations, gain-of-function mutations, myocardial infarction, triglyceride levels, PCSK9, LPA, genetic risk factors, triglyceride lowering
- MeSH terms
- Angiopoietin-Like Protein 4, Aged, Coronary Artery Disease, Female, Humans, Lipoprotein Lipase, Male, Middle Aged, Mutation, Risk Factors, Triglycerides, Cell Adhesion Molecules, Sequence Analysis, DNA, Mutation, Missense, Angiopoietins, Genotyping Techniques
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
