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
“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”
The 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
“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
Cited by
Sorted by citations
Heart Disease and Stroke Statistics—2020 Update: A Report From the American Heart Association
Virani, S. S., Alonso, A., Benjamin, E. J., Bittencourt, M. S., Callaway, C. W., Carson, A. P., Chamberlain, A. M., Chang, A. R., Cheng, S., Delling, F. N., et al. (2020) · Circulation · doi:10.1161/cir.0000000000000757 · Cited by 9,175
Heart Disease and Stroke Statistics—2019 Update: A Report From the American Heart Association
Benjamin, E. J., Muntner, P., Alonso, A., Bittencourt, M. S., Callaway, C. W., Carson, A. P., Chamberlain, A. M., Chang, A. R., Cheng, S., Das, S. R., et al. (2019) · Circulation · doi:10.1161/cir.0000000000000659 · Cited by 9,036
Heart Disease and Stroke Statistics—2023 Update: A Report From the American Heart Association
Tsao, C. W., Aday, A. W., Almarzooq, Z. I., Anderson, C. A. M., Arora, P., Avery, C. L., Baker-Smith, C. M., Beaton, A. Z., Boehme, A. K., Buxton, A. E., et al. (2023) · Circulation · doi:10.1161/cir.0000000000001123 · Cited by 8,300
Heart disease and stroke statistics-2018 update: a report from the american heart association
Benjamin, E. J., Virani, S. S., Callaway, C. W., Chamberlain, A. M., Chang, A. R., Cheng, S., Chiuve, S. E., Cushman, M., Delling, F. N., Deo, R., et al. (2018) · Circulation · doi:10.1161/cir.0000000000000558 · Cited by 7,146
Heart Disease and Stroke Statistics—2022 Update: A Report From the American Heart Association
Tsao, C. W., Aday, A. W., Almarzooq, Z. I., Alonso, A., Beaton, A. Z., Bittencourt, M. S., Boehme, A. K., Buxton, A. E., Carson, A. P., Commodore-Mensah, Y., et al. (2022) · Circulation · doi:10.1161/cir.0000000000001052 · Cited by 5,987
Heart Disease and Stroke Statistics—2021 Update: A Report From the American Heart Association
Virani, S. S., Alonso, A., Aparicio, H. J., Benjamin, E. J., Bittencourt, M. S., Callaway, C. W., Carson, A. P., Chamberlain, A. M., Cheng, S., Delling, F. N., et al. (2021) · Circulation · doi:10.1161/cir.0000000000000950 · Cited by 5,784
Martin, S. S., Aday, A. W., Almarzooq, Z. I., Anderson, C. A. M., Arora, P., Avery, C. L., Baker-Smith, C. M., Barone Gibbs, B., Beaton, A. Z., Boehme, A. K., et al. (2024) · Circulation · doi:10.1161/cir.0000000000001209 · Cited by 2,800
Borén, J., Chapman, M. J., Krauss, R. M., Packard, C. J., Bentzon, J. F., Binder, C. J., Daemen, M. J., Demer, L. L., Hegele, R. A., Nicholls, S. J., et al. (2020) · European Heart Journal · doi:10.1093/eurheartj/ehz962 · Cited by 1,601
van der Harst, P., & Verweij, N. (2018) · Circulation Research · doi:10.1161/circresaha.117.312086 · Cited by 1,141
Martin, S. S., Aday, A. W., Allen, N. B., Almarzooq, Z., Anderson, C. A. M., Arora, P. K., Avery, C. L., Baker-Smith, C. M., Bansal, N., Beaton, A., et al. (2025) · Circulation · doi:10.1161/cir.0000000000001303 · Cited by 1,284
Ginsberg, H. N., Packard, C. J., Chapman, M. J., Borén, J., Aguilar-Salinas, C. A., Averna, M., Ference, B. A., Gaudet, D., Hegele, R. A., Kersten, S., et al. (2021) · European Heart Journal · doi:10.1093/eurheartj/ehab551 · Cited by 979
Genetics of 35 blood and urine biomarkers in the UK Biobank
Sinnott-Armstrong, N., Tanigawa, Y., Amar, D., Mars, N., Benner, C., Aguirre, M., Venkataraman, G. R., Wainberg, M., Ollila, H. M., Kiiskinen, T., et al. (2021) · Nature Genetics · doi:10.1038/s41588-020-00757-z · Cited by 744
Aragam, K. G., Jiang, T., Goel, A., Kanoni, S., Wolford, B. N., Atri, D. S., Weeks, E. M., Wang, M., Hindy, G., Zhou, W., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01233-6 · Cited by 738
Ference, B. A., Kastelein, J. J. P., Ray, K. K., Ginsberg, H. N., Chapman, M. J., Packard, C. J., Laufs, U., Oliver-Williams, C., Wood, A. M., Butterworth, A. S., et al. (2019) · JAMA · doi:10.1001/jama.2018.20045 · Cited by 703
Association analyses based on false discovery rate implicate new loci for coronary artery disease
Nelson, C. P., CARDIoGRAMplusC4D, Goel, A., Butterworth, A. S., Kanoni, S., Webb, T. R., Marouli, E., Zeng, L., Ντάλλα, Ι., Lai, F. Y., et al. (2017) · Nature Genetics · doi:10.1038/ng.3913 · Cited by 673
Würtz, P., Kangas, A. J., Soininen, P., Lawlor, D. A., Smith, G. D., & Ala‐Korpela, M. (2017) · American Journal of Epidemiology · doi:10.1093/aje/kwx016 · Cited by 669
Genetics of coronary artery disease: discovery, biology and clinical translation
Khera, A. V., & Kathiresan, S. (2017) · Nature Reviews Genetics · doi:10.1038/nrg.2016.160 · Cited by 659
Metabolic-associated fatty liver disease and lipoprotein metabolism
Heeren, J., & Scheja, L. (2021) · Molecular Metabolism · doi:10.1016/j.molmet.2021.101238 · Cited by 692
Genetics of blood lipids among ∼300,000 multi-ethnic participants of the Million Veteran Program
Global Lipids Genetics Consortium, Klarin, D., Myocardial Infarction Genetics (MIGen) Consortium, The Geisinger-Regeneron DiscovEHR Collaboration, Program, T. V. M. V., Damrauer, S. M., Cho, K., Sun, Y. V., Teslovich, T. M., Honerlaw, J., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0222-9 · Cited by 625
Natarajan, P., Young, R., Stitziel, N. O., Padmanabhan, S., Baber, U., Mehran, R., Sartori, S., Fuster, V., Reilly, D. F., Butterworth, A., et al. (2017) · Circulation · doi:10.1161/circulationaha.116.024436 · Cited by 570
Lotta, L. A., Gulati, P., Day, F. R., Payne, F., Ongen, H., van de Bunt, M., Gaulton, K. J., Eicher, J. D., Sharp, S. J., Luan, J., et al. (2016) · Nature Genetics · doi:10.1038/ng.3714 · Cited by 599
Cardiovascular and Metabolic Effects of ANGPTL3 Antisense Oligonucleotides
Graham, M. J., Lee, R. G., Brandt, T. A., Tai, L.-J., Fu, W., Peralta, R., Yu, R., Hurh, E., Paz, E., McEvoy, B. W., et al. (2017) · New England Journal of Medicine · doi:10.1056/nejmoa1701329 · Cited by 573
Clinical review on triglycerides
Laufs, U., Parhofer, K. G., Ginsberg, H. N., & Hegele, R. A. (2020) · European Heart Journal · doi:10.1093/eurheartj/ehz785 · Cited by 544
Exome-wide association study of plasma lipids in >300,000 individuals
Charge Diabetes Working Group, Liu, D. J., The EPIC-InterAct Consortium, EPIC-CVD Consortium, GOLD Consortium, Program, V. M. V., Peloso, G. M., Yu, H., Butterworth, A. S., Wang, X., et al. (2017) · Nature Genetics · doi:10.1038/ng.3977 · Cited by 540
Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease
Dewey, F. E., Gusarova, V., O’Dushlaine, C., Gottesman, O., Trejos, J., Hunt, C., Van Hout, C. V., Habegger, L., Buckler, D., Lai, K.-M. V., et al. (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1510926 · Cited by 497
Skulas-Ray, A. C., Wilson, P. W. F., Harris, W. S., Brinton, E. A., Kris-Etherton, P. M., Richter, C. K., Jacobson, T. A., Engler, M. B., Miller, M., Robinson, J. G., et al. (2019) · Circulation · doi:10.1161/cir.0000000000000709 · Cited by 512
Gupta, R. M., Hadaya, J., Trehan, A., Zekavat, S. M., Roselli, C., Klarin, D., Emdin, C. A., Hilvering, C. R. E., Bianchi, V., Mueller, C., et al. (2017) · Cell · doi:10.1016/j.cell.2017.06.049 · Cited by 450
ANGPTL3 deficiency and protection against coronary artery disease
Stitziel, N. O., Khera, A. V., Wang, X., Bierhals, A. J., Vourakis, A. C., Sperry, A. E., Natarajan, P., Klarin, D., Emdin, C. A., Zekavat, S. M., et al. (2017) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2017.02.030 · Cited by 467
Roden, D. M., McLeod, H. L., Relling, M. V., Williams, M. S., Mensah, G. A., Peterson, J. F., & Driest, S. L. V. (2019) · The Lancet · doi:10.1016/s0140-6736(19)31276-0 · Cited by 455
Yao, C., Chen, G., Song, C., Keefe, J., Mendelson, M., Huan, T., Sun, B. B., Laser, A., Maranville, J. C., Wu, H., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-05512-x · Cited by 431
Personalized Medicine and the Power of Electronic Health Records
Abul-Husn, N. S., & Kenny, E. E. (2019) · Cell · doi:10.1016/j.cell.2019.02.039 · Cited by 355
Hypertriglyceridaemia and risk of coronary artery disease
Reiner, Ž. (2017) · Nature Reviews Cardiology · doi:10.1038/nrcardio.2017.31 · Cited by 390
Emdin, C. A., Khera, A. V., Natarajan, P., Klarin, D., Zekavat, S. M., Hsiao, A. J., & Kathiresan, S. (2017) · JAMA · doi:10.1001/jama.2016.21042 · Cited by 378
A decade of genome-wide association studies for coronary artery disease: the challenges ahead
Erdmann, J., Kessler, T., Venegas, L. M., & Schunkert, H. (2018) · Cardiovascular Research · doi:10.1093/cvr/cvy084 · Cited by 331
Pradhan, A. D., Paynter, N. P., Everett, B. M., Glynn, R. J., Amarenco, P., Elam, M., Ginsberg, H., Hiatt, W. R., Ishibashi, S., Koenig, W., et al. (2018) · American Heart Journal · doi:10.1016/j.ahj.2018.09.011 · Cited by 319
Genome-wide association study of peripheral artery disease in the Million Veteran Program
Program, V. M. V., Klarin, D. M., Lynch, J. A., Aragam, K. G., Chaffin, M. D., Assimes, T. L., Huang, J., Lee, K. M., Shao, Q., Huffman, J. E., et al. (2019) · Nature Medicine · doi:10.1038/s41591-019-0492-5 · Cited by 292
Palaniappan, L. P., Allen, N. B., Almarzooq, Z., Anderson, C. A. M., Arora, P. K., Avery, C. L., Baker-Smith, C. M., Bansal, N., Currie, M. E., Earlie, R. S., et al. (2026) · Circulation · doi:10.1161/cir.0000000000001412 · Cited by 343
Liu, C., Consortia, M. I. G. A. C. E., Kraja, A. T., Smith, J. A., Brody, J. A., Franceschini, N., Bis, J. C., Rice, K. M., Morrison, A. C., Lu, Y., et al. (2016) · Nature Genetics · doi:10.1038/ng.3660 · Cited by 265
Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels
Emdin, C. A., Khera, A. V., Natarajan, P., Klarin, D., Won, H.-H., Peloso, G. M., Stitziel, N. O., Nomura, A., Zekavat, S. M., Bick, A. G., et al. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.10.033 · Cited by 244
Webb, T. R., Erdmann, J., Stirrups, K. E., Stitziel, N. O., Masca, N. G. D., Jansen, H., Kanoni, S., Nelson, C. P., Ferrario, P. G., König, I. R., et al. (2017) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.11.056 · Cited by 250
Genetics of Common, Complex Coronary Artery Disease
Musunuru, K., & Kathiresan, S. (2019) · Cell · doi:10.1016/j.cell.2019.02.015 · Cited by 246
ANGPTL4 in Metabolic and Cardiovascular Disease
Aryal, B. K., Price, N. L., Suárez, Y., & Fernandez-Hernando, C. F. (2019) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2019.05.010 · Cited by 239
Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation
Choi, S. H., Weng, L.-C. C., Roselli, C., Lin, H., Haggerty, C. M., Shoemaker, M. B., Barnard, J., Arking, D. E., Chasman, D. I., Albert, C. M., et al. (2018) · JAMA · doi:10.1001/jama.2018.18179 · Cited by 232
Klarin, D. M., Zhu, Q. M., Emdin, C. A., Chaffin, M. D., Horner, S. L., McMillan, B. J., Leed, A., Weale, M. E., Spencer, C. C. A., Aguet, F., et al. (2017) · Nature Genetics · doi:10.1038/ng.3914 · Cited by 232
Ghodsian, N., Abner, E., Emdin, C. A., Gobeil, É., Taba, N., Haas, M. E., Perrot, N., Manikpurage, H. D., Gagnon, É., Bourgault, J., et al. (2021) · Cell Reports Medicine · doi:10.1016/j.xcrm.2021.100437 · Cited by 244
Xiao, C., Dash, S., Morgantini, C., Hegele, R. A., & Lewis, G. F. (2016) · Diabetes · doi:10.2337/db16-0046 · Cited by 212
Association of rare and common variation in the lipoprotein lipase gene with coronary artery disease
Khera, A. V., Won, H.-H., Peloso, G. M., O’Dushlaine, C., Liu, D., Stitziel, N. O., Natarajan, P., Nomura, A., Emdin, C. A., Gupta, N., et al. (2017) · JAMA · doi:10.1001/jama.2017.0972 · Cited by 198
Triglycerides and Triglyceride-Rich Lipoproteins in the Causal Pathway of Cardiovascular Disease
Budoff, M. J. (2016) · The American Journal of Cardiology · doi:10.1016/j.amjcard.2016.04.004 · Cited by 186
Lipid-Lowering Agents: Targets Beyond PCSK9
Hegele, R. A., & Tsimikas, S. (2019) · Circulation Research · doi:10.1161/circresaha.118.313171 · Cited by 171
Newman, C. B., Blaha, M. J., Boord, J. B., Cariou, B., Chait, A., Fein, H. G., Ginsberg, H. N., Goldberg, I. J., Murad, M. H., Subramanian, S., et al. (2020) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaa674 · Cited by 182
Balling, M., Afzal, S., Varbo, A., Langsted, A., Davey Smith, G., & Nordestgaard, B. G. (2020) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2020.09.610 · Cited by 175
Kessler, T., Vilne, B., & Schunkert, H. (2016) · EMBO Molecular Medicine · doi:10.15252/emmm.201506174 · Cited by 180
Basu, D., Huggins, L.-A., Scerbo, D. A., Obunike, J. C., Mullick, A. E., Rothenberg, P., Prospero, N. A. D., Eckel, R. H., & Goldberg, I. J. (2018) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.118.311339 · Cited by 163
Emdin, C. A., Haas, M. E., Khera, A. V., Aragam, K. G., Chaffin, M. D., Klarin, D. M., Hindy, G., Jiang, L., Wei, W., Feng, Q., et al. (2020) · PLoS Genetics · doi:10.1371/journal.pgen.1008629 · Cited by 166
Regulation of lipoprotein metabolism by ANGPTL3, ANGPTL4, and ANGPTL8
Sylvers-Davie, K. L., & Davies, B. S. J. (2021) · American Journal of Physiology-Endocrinology and Metabolism · doi:10.1152/ajpendo.00195.2021 · Cited by 154
Effects of Fish n-3 PUFAs on Intestinal Microbiota and Immune System
Parolini, C. (2019) · Marine Drugs · doi:10.3390/md17060374 · Cited by 158
Relevance of Multi-Omics Studies in Cardiovascular Diseases
León‐Mimila, P., Wang, J., & Huertas‐Vázquez, A. (2019) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2019.00091 · Cited by 162
Genomic insights into the causes of type 2 diabetes
Langenberg, C., & Lotta, L. A. (2018) · The Lancet · doi:10.1016/s0140-6736(18)31132-2 · Cited by 154
Polygenic Scores to Assess Atherosclerotic Cardiovascular Disease Risk
Aragam, K. G., & Natarajan, P. (2020) · Circulation Research · doi:10.1161/circresaha.120.315928 · Cited by 148
Role and mechanism of the action of angiopoietin-like protein ANGPTL4 in plasma lipid metabolism
Kersten, S. (2021) · Journal of Lipid Research · doi:10.1016/j.jlr.2021.100150 · Cited by 151
Gusarova, V., O’Dushlaine, C., Teslovich, T. M., Benotti, P. N., Mirshahi, T., Gottesman, O., Van Hout, C. V., Murray, M. F., Mahajan, A., Nielsen, J. B., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-04611-z · Cited by 145
The Molecular Basis of Predicting Atherosclerotic Cardiovascular Disease Risk
Nayor, M. G., Brown, K., & Vasan, R. S. (2021) · Circulation Research · doi:10.1161/circresaha.120.315890 · Cited by 149
GPIHBP1 and Lipoprotein Lipase, Partners in Plasma Triglyceride Metabolism
Young, S. G., Fong, L. G., Beigneux, A. P., Allan, C. M., He, C. H., Jiang, H., Nakajima, K., Muthuraman, M., Birrane, G., & Ploug, M. (2019) · Cell Metabolism · doi:10.1016/j.cmet.2019.05.023 · Cited by 148
Fruchart, J.-C., Santos, R. D., Aguilar-Salinas, C., Aikawa, M., Al Rasadi, K., Amarenco, P., Barter, P. J., Ceska, R., Corsini, A., Després, J.-P., et al. (2019) · Cardiovascular Diabetology · doi:10.1186/s12933-019-0864-7 · Cited by 140
Yamauchi, T., Masuda, T., Canver, M. C., Seiler, M., Semba, Y., Shboul, M., Al‐Raqad, M., Maeda, M., Schoonenberg, V. A. C., Cole, M. A., et al. (2018) · Cancer Cell · doi:10.1016/j.ccell.2018.01.012 · Cited by 139
Averna, M. R., Banach, M., Bruckert, É., Drexel, H., Farnier, M., Gaiță, D. I., Magni, P., März, W., Masana, L., Silva, A. M. E., et al. (2021) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2021.03.039 · Cited by 143
Kaltoft, M., Langsted, A., & Nordestgaard, B. G. (2020) · European Heart Journal · doi:10.1093/eurheartj/ehaa172 · Cited by 122
Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum
Ganna, A., Satterstrom, F. K., Zekavat, S. M., Das, I., Kurki, M. I., Churchhouse, C., Alfoldi, J., Martin, A. R., Havulinna, A. S., Byrnes, A., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.05.002 · Cited by 110
Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study
DeBoever, C., Tanigawa, Y., Lindholm, M. E., McInnes, G., Lavertu, A., Ingelsson, E., Chang, C. C., Ashley, E. A., Bustamante, C. D., Daly, M. J., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-03910-9 · Cited by 125
Shared Risk Factors between Dementia and Atherosclerotic Cardiovascular Disease
Nordestgaard, L. T., Christoffersen, M., & Frikke‐Schmidt, R. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23179777 · Cited by 128
Coronary Atherosclerosis: Pathophysiologic Basis for Diagnosis and Management
Boudoulas, K. D., Triposkiadis, F. K., Geleris, P., & Boudoulas, H. K. (2016) · Progress in Cardiovascular Diseases · doi:10.1016/j.pcad.2016.04.003 · Cited by 129
Mysling, S., Kristensen, K. K., Larsson, M., Kovrov, O., Bensadouen, A., Jørgensen, T. J., Olivecrona, G., Young, S. G., & Ploug, M. (2016) · eLife · doi:10.7554/elife.20958 · Cited by 77
Angiopoietin-like 4 promotes intracellular degradation of lipoprotein lipase in adipocytes
Dijk, W., Beigneux, A. P., Larsson, M., Bensadoun, A., Young, S. G., & Kersten, S. (2016) · Journal of Lipid Research · doi:10.1194/jlr.m067363 · Cited by 103
Genetics: Implications for Prevention and Management of Coronary Artery Disease
Assimes, T. L., & Roberts, R. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.10.039 · Cited by 118
Genetics of Triglycerides and the Risk of Atherosclerosis
Dron, J. S., & Hegele, R. A. (2017) · Current Atherosclerosis Reports · doi:10.1007/s11883-017-0667-9 · Cited by 114
Toth, P. P., Granowitz, C., Hull, M., Liassou, D., Anderson, A., & Philip, S. (2018) · Journal of the American Heart Association · doi:10.1161/jaha.118.008740 · Cited by 117
Khetarpal, S. A., Zeng, X., Millar, J. S., Vitali, C., Somasundara, A. V. H., Zanoni, P., Landro, J. A., Barucci, N., Zavadoski, W. J., Sun, Z., et al. (2017) · Nature Medicine · doi:10.1038/nm.4390 · Cited by 109
Coronary Artery Disease Genetics Enlightened by Genome-Wide Association Studies
Kessler, T., & Schunkert, H. (2021) · JACC Basic to Translational Science · doi:10.1016/j.jacbts.2021.04.001 · Cited by 111
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations
Sanna‐Cherchi, S., Khan, K., Westland, R., Krithivasan, P., Fievet, L., Rasouly, H. M., Ionita‐Laza, I., Capone, V. P., Fasel, D. A., Kiryluk, K., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.09.018 · Cited by 109
Triglycerides and risk of atherosclerotic cardiovascular disease: An update
Farnier, M., Zeller, M., Masson, D., & Cottin, Y. (2021) · Archives of cardiovascular diseases · doi:10.1016/j.acvd.2020.11.006 · Cited by 116
Holdt, L. M., & Teupser, D. (2018) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2018.00145 · Cited by 108
The application of big data to cardiovascular disease: paths to precision medicine
Leopold, J. A., Maron, B. A., & Loscalzo, J. (2020) · Journal of Clinical Investigation · doi:10.1172/jci129203 · Cited by 106
Orringer, C. E., Jacobson, T. A., & Maki, K. C. (2019) · Journal of Clinical Lipidology · doi:10.1016/j.jacl.2019.10.014 · Cited by 103
Genetics of coronary artery disease in the post‐GWAS era
Chen, Z., & Schunkert, H. (2021) · Journal of Internal Medicine · doi:10.1111/joim.13362 · Cited by 111
Genetics of 38 blood and urine biomarkers in the UK BiobankPreprint
Sinnott-Armstrong, N., Tanigawa, Y., Amar, D., Mars, N., Aguirre, M., Venkataraman, G. R., Wainberg, M., Ollila, H. M., Pirruccello, J. P., Qian, J., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/660506 · Cited by 102
Functional Characterization of the GUCY1A3 Coronary Artery Disease Risk Locus
Kessler, T., Wobst, J., Wolf, B. A., Eckhold, J., Vilne, B., Hollstein, R., von Ameln, S., Dang, T. A., Sager, H. B., Rumpf, P. M., et al. (2017) · Circulation · doi:10.1161/circulationaha.116.024152 · Cited by 100
He, P., Jiang, T., Ouyang, X.-P., Liang, Y., Zou, J.-Q., Wang, Y., Shen, Q., Liao, L., & Zheng, X. (2018) · Clinica Chimica Acta · doi:10.1016/j.cca.2018.02.006 · Cited by 108
Antiinflammatory activity of ANGPTL4 facilitates macrophage polarization to induce cardiac repair
Cho, D. I., Kang, H., Jeon, J. H., Eom, G. H., Cho, H. H., Kim, M. R., Cho, M., Jeong, H.-Y., Cho, H. C., Hong, M. H., et al. (2019) · JCI Insight · doi:10.1172/jci.insight.125437 · Cited by 97
Increased ANGPTL3, 4 and ANGPTL8/betatrophin expression levels in obesity and T2D
Abu‐Farha, M., Al‐Khairi, I., Cherian, P., Chandy, B., Devarajan, S., Alhubail, A., Al-Refaei, F. H., Alterki, A., & Abubaker, J. A. (2016) · Lipids in Health and Disease · doi:10.1186/s12944-016-0337-x · Cited by 99
Structure of the lipoprotein lipase–GPIHBP1 complex that mediates plasma triglyceride hydrolysis
Birrane, G., Beigneux, A. P., Dwyer, B., Strack-Logue, B., Kristensen, K. K., Francone, O. L., Fong, L. G., Mertens, H. D. T., Pan, C. Q., Ploug, M., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1817984116 · Cited by 98
Effects of APOC3 Heterozygous Deficiency on Plasma Lipid and Lipoprotein Metabolism
Reyes-Soffer, G., Sztalryd, C., Horenstein, R. B., Holleran, S., Matveyenko, A., Thomas, T., Nandakumar, R., Ngai, C., Karmally, W., Ginsberg, H. N., et al. (2019) · Arteriosclerosis, Thrombosis, and Vascular Biology · doi:10.1161/atvbaha.118.311476 · Cited by 97
Williams, S. A., Ostroff, R., Hinterberg, M. A., Coresh, J., Ballantyne, C. M., Matsushita, K., Mueller, C. E., Walter, J., Jonasson, C., Holman, R. R., et al. (2022) · Science Translational Medicine · doi:10.1126/scitranslmed.abj9625 · Cited by 97
Bartlett, J., Predazzi, I. M., Williams, S. M., Bush, W. S., Kim, Y., Havas, S., Toth, P. P., Fazio, S., & Miller, M. (2016) · Circulation: Cardiovascular Quality and Outcomes · doi:10.1161/circoutcomes.115.002436 · Cited by 96
Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals
Eicher, J. D., Chami, N., Kacprowski, T., Nomura, A., Chen, M., Yanek, L. R., Tajuddin, S. M., Schick, U. M., Slater, A. J., Pankratz, N., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.05.005 · Cited by 96
Preeclampsia: novel insights from global RNA profiling of trophoblast subpopulations
Gormley, M. J., Ona, K., Kapidzic, M., Garrido‐Gómez, T., Zdravkovic, T., & Fisher, S. J. (2017) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2017.03.017 · Cited by 99
Emdin, C. A., Khera, A. V., Chaffin, M. D., Klarin, D. M., Natarajan, P., Aragam, K. G., Haas, M. E., Bick, A. G., Zekavat, S. M., Nomura, A., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-03911-8 · Cited by 90
New insights into angiopoietin-like proteins in lipid metabolism and cardiovascular disease risk
Kersten, S. (2019) · Current Opinion in Lipidology · doi:10.1097/mol.0000000000000600 · Cited by 95
Cohort Profile: Genetics of Diabetes Audit and Research in Tayside Scotland (GoDARTS)
Hébert, H. L., Shepherd, B., Milburn, K., Veluchamy, A., Meng, W., Carr, F., Donnelly, L. A., Tavendale, R., Leese, G., Colhoun, H. M., et al. (2017) · International Journal of Epidemiology · doi:10.1093/ije/dyx140 · Cited by 89
Ray, K. K., Corral, P., Morales, E., & Nicholls, S. J. (2019) · The Lancet · doi:10.1016/s0140-6736(19)31950-6 · Cited by 94
HDL and Reverse Remnant-Cholesterol Transport (RRT): Relevance to Cardiovascular Disease
Kontush, A. (2020) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2020.07.005 · Cited by 93
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
