The DOI matches its Crossref record; 53 of the 55 references it cites were found in a registry or an index.
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
Open accessAbstract
Myocardial infarction (MI), a leading cause of death around the world, displays a complex pattern of inheritance. When MI occurs early in life, genetic inheritance is a major component to risk. Previously, rare mutations in low-density lipoprotein (LDL) genes have been shown to contribute to MI risk in individual families, whereas common variants at more than 45 loci have been associated with MI risk in the population. Here we evaluate how rare mutations contribute to early-onset MI risk in the population. We sequenced the protein-coding regions of 9,793 genomes from patients with MI at an early age (≤50 years in males and ≤60 years in females) along with MI-free controls. We identified two genes in which rare coding-sequence mutations were more frequent in MI cases versus controls at exome-wide significance. At low-density lipoprotein receptor (LDLR), carriers of rare non-synonymous mutations were at 4.2-fold increased risk for MI; carriers of null alleles at LDLR were at even higher risk (13-fold difference). Approximately 2% of early MI cases harbour a rare, damaging mutation in LDLR; this estimate is similar to one made more than 40 years ago using an analysis of total cholesterol. Among controls, about 1 in 217 carried an LDLR coding-sequence mutation and had plasma LDL cholesterol > 190 mg dl(-1). At apolipoprotein A-V (APOA5), carriers of rare non-synonymous mutations were at 2.2-fold increased risk for MI. When compared with non-carriers, LDLR mutation carriers had higher plasma LDL cholesterol, whereas APOA5 mutation carriers had higher plasma triglycerides. Recent evidence has connected MI risk with coding-sequence mutations at two genes functionally related to APOA5, namely lipoprotein lipase and apolipoprotein C-III (refs 18, 19). Combined, these observations suggest that, as well as LDL cholesterol, disordered metabolism of triglyceride-rich lipoproteins contributes to MI risk.
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
“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”
From Triglyceride-rich lipoproteins and their remnants: metabolic insights, role in atherosclerotic cardiovascular disease, and emerging therapeutic strategies—a consensus statement from the European Atherosclerosis Society (2021) · cites this paper as [29]
Experimental — accuracy not yet measuredIn the citing paper
“In contrast, apo A-V, which promotes LPL activity through partially defined mechanisms, is a strong genetically validated target for ASCVD.95,96”
From Clinical review on triglycerides (2020) · cites this paper as [96]
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
Self-citationFast 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
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Wang, K., Li, M., & Hakonarson, H. H. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq603 · Cited by 14,724
Self-citationCingolani, P., Platts, A., Wang, L. L., Coon, M., Nguyen, T., Wang, L., Land, S. J., Lu, X., & Ruden, D. M. (2012) · Fly · doi:10.4161/fly.19695 · Cited by 11,816
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
Self-citationPrincipal components analysis corrects for stratification in genome-wide association studies
Price, A. L., Patterson, N. J., Plenge, R. M., Weinblatt, M. E., Shadick, N. A., & Reich, D. (2006) · Nature Genetics · doi:10.1038/ng1847 · Cited by 10,248
A map of human genome variation from population-scale sequencing.
The 1000 Genomes Project Consortium (2010) · Nature · doi:10.1038/nature09534 · Cited by 7,877
Self-citationA Receptor-Mediated Pathway for Cholesterol Homeostasis
Brown, M. S., & Goldstein, J. L. (1986) · Science · doi:10.1126/science.3513311 · Cited by 5,703
METAL: fast and efficient meta-analysis of genomewide association scans
Willer, C. J., Li, Y., & Abecasis, G. R. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq340 · Cited by 5,205
Self-citation
Cited by
Sorted by citations
Clonal hematopoiesis and risk of atherosclerotic cardiovascular disease
Jaiswal, S., Natarajan, P., Silver, A. J., Gibson, C. J., Bick, A. G., Shvartz, E., McConkey, M., Gupta, N., Gabriel, S., Ardissino, D., et al. (2017) · New England Journal of Medicine · doi:10.1056/nejmoa1701719 · Cited by 2,683
Self-citationA 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
Self-citationGenome-wide association studies
Uffelmann, E., Huang, Q. Q., Munung, N. S., de Vries, J., Okada, Y., Martin, A. R., Martin, H. C., Lappalainen, T., & Posthuma, D. (2021) · Nature Reviews Methods Primers · doi:10.1038/s43586-021-00056-9 · Cited by 1,849
Immunity and Inflammation in Atherosclerosis
Wolf, D., & Ley, K. F. (2019) · Circulation Research · doi:10.1161/circresaha.118.313591 · Cited by 1,798
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
Self-citationFritsche, L. G., Igl, W., Bailey, J. N. C., Grassmann, F., Sengupta, S., Bragg-Gresham, J. L., Burdon, K. P., Hebbring, S. J., Wen, C., Gorski, M., et al. (2016) · Nature Genetics · doi:10.1038/ng.3448 · Cited by 1,544
Self-citationGinsberg, 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
Self-citationKhera, A. V., Won, H.-H., Peloso, G. M., Lawson, K. S., Bartz, T. M., Deng, X., van Leeuwen, E. M., Natarajan, P., Emdin, C. A., Bick, A. G., et al. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.03.520 · Cited by 942
Self-citationWiegman, A., Gidding, S. S., Watts, G. F., Chapman, M. J., Ginsberg, H. N., Cuchel, M., Ose, L., Averna, M., Boileau, C., Borén, J., et al. (2015) · European Heart Journal · doi:10.1093/eurheartj/ehv157 · Cited by 891
“190 mg/dL.(7) Consequently, there are potentially”
Self-citationDeveloping and evaluating polygenic risk prediction models for stratified disease prevention
Chatterjee, N., Shi, J., & García‐Closas, M. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.27 · Cited by 712
Worldwide Prevalence of Familial Hypercholesterolemia
Beheshti, S. O., Madsen, C. M., Varbo, A., & Nordestgaard, B. G. (2020) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2020.03.057 · Cited by 693
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
Self-citationSandesara, P. B., Virani, S. S., Fazio, S., & Shapiro, M. D. (2019) · Endocrine Reviews · doi:10.1210/er.2018-00184 · Cited by 608
Clinical Genetic Testing for Familial Hypercholesterolemia
Sturm, A. C., Knowles, J. W., Gidding, S. S., Ahmad, Z., Ahmed, C. D., Ballantyne, C. M., Baum, S. J., Bourbon, M., Carrié, A., Cuchel, M., et al. (2018) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2018.05.044 · Cited by 643
Self-citationLotta, 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
Self-citationNordestgaard, B. G., & Langsted, A. (2016) · Journal of Lipid Research · doi:10.1194/jlr.r071233 · Cited by 575
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
Self-citationExome sequencing and characterization of 49,960 individuals in the UK Biobank
Van Hout, C. V., Tachmazidou, I., Backman, J. D., Hoffman, J. D., Liu, D., Pandey, A. K., Gonzaga-Jauregui, C., Khalid, S., Ye, B., Banerjee, N., et al. (2020) · Nature · doi:10.1038/s41586-020-2853-0 · Cited by 561
Self-citationClinical 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
Self-citationFamilial hypercholesterolaemia
Defesche, J. C., Gidding, S. S., Harada-Shiba, M., Hegele, R. A., Santos, R. D., & Wierzbicki, A. S. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.93 · Cited by 453
Self-citationDewey, F. E., Murray, M. F., Overton, J. D., Habegger, L., Leader, J. B., Fetterolf, S. N., O’Dushlaine, C. T., Hout, C. V. V., Staples, J. C., Gonzaga-Jauregui, C. G., et al. (2016) · Science · doi:10.1126/science.aaf6814 · Cited by 545
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
Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease
Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1507652 · Cited by 493
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
Self-citationTsao, C. W., & Vasan, R. S. (2015) · International Journal of Epidemiology · doi:10.1093/ije/dyv337 · Cited by 457
Study, S. S., Singh, T., Study, I., Study, D., UK10 K Consortium, Kurki, M. I., Curtis, D., Purcell, S. M., Crooks, L., McRae, J., et al. (2016) · Nature Neuroscience · doi:10.1038/nn.4267 · Cited by 452
Self-citationGenetic architecture: the shape of the genetic contribution to human traits and disease
Timpson, N. J., Greenwood, C. M. T., Soranzo, N., Lawson, D. J., & Richards, J. B. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2017.101 · Cited by 434
O’Sullivan, J. W., Raghavan, S., Márquez‐Luna, C., Luzum, J. A., Damrauer, S. M., Ashley, E. A., O’Donnell, C. J., Willer, C. J., & Natarajan, P. (2022) · Circulation · doi:10.1161/cir.0000000000001077 · Cited by 443
Self-citationSantos, R. D., Gidding, S. S., Hegele, R. A., Cuchel, M., Barter, P. J., Watts, G. F., Baum, S. J., Catapano, A. L., Chapman, M. J., Defesche, J. C., et al. (2016) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(16)30041-9 · Cited by 440
Self-citationInactivating Mutations in NPC1L1 and Protection from Coronary Heart Disease
The Myocardial Infarction Genetics Consortium Investigators (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1405386 · Cited by 419
Asselta, R., Paraboschi, E. M., Mantovani, A., & Duga, S. (2020) · Aging · doi:10.18632/aging.103415 · Cited by 429
Self-citationBenn, M., Watts, G. F., Tybjærg‐Hansen, A., & Nordestgaard, B. G. (2016) · European Heart Journal · doi:10.1093/eurheartj/ehw028 · Cited by 414
Genetics of Coronary Artery Disease
McPherson, R., & Tybjærg‐Hansen, A. (2016) · Circulation Research · doi:10.1161/circresaha.115.306566 · Cited by 384
Self-citationThe impact of rare and low-frequency genetic variants in common disease
Bomba, L., Walter, K., & Soranzo, N. (2017) · Genome biology · doi:10.1186/s13059-017-1212-4 · Cited by 369
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity
Saleheen, D., Natarajan, P., Armean, I. M., Zhao, W., Rasheed, A., Khetarpal, S. A., Won, H.-H., Karczewski, K. J., O’Donnell-Luria, A. H., Samocha, K. E., et al. (2017) · Nature · doi:10.1038/nature22034 · Cited by 340
Self-citationFrąk, W., Wojtasińska, A., Lisińska, W., Młynarska, E., Franczyk, B., & Rysz, J. (2022) · Biomedicines · doi:10.3390/biomedicines10081938 · Cited by 284
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
Self-citationPradhan, 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
Khera, A. V., Chaffin, M., Zekavat, S. M., Collins, R. L., Roselli, C., Natarajan, P., Lichtman, J. H., D’Onofrio, G., Mattera, J., Dreyer, R., et al. (2019) · Circulation · doi:10.1161/circulationaha.118.035658 · Cited by 315
Self-citationExome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls
Platform, B. G., Flannick, J., DiscovEHR Collaboration, CHARGE, LuCamp, ProDiGY, GoT2D, ESP, SIGMA-T2D, T2D-GENES, et al. (2019) · Nature · doi:10.1038/s41586-019-1231-2 · Cited by 304
Self-citationSequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity
Akbari, P., Gilani, A., Sosina, O., Kosmicki, J. A., Khrimian, L., Fang, Y.-Y., Persaud, T., Garcia, V., Sun, D., Li, A., et al. (2021) · Science · doi:10.1126/science.abf8683 · Cited by 276
Self-citationDiagnosis and Treatment of Heterozygous Familial Hypercholesterolemia
McGowan, M. P., Dehkordi, S. H. H., Moriarty, P. M., & Duell, P. B. (2019) · Journal of the American Heart Association · doi:10.1161/jaha.119.013225 · Cited by 293
Extreme Polygenicity of Complex Traits Is Explained by Negative Selection
O'Connor, L. J., Schoech, A. P., Hormozdiari, F., Gazal, S., Patterson, N., & Price, A. L. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.07.003 · Cited by 268
The Evolving Future of PCSK9 Inhibitors
Rosenson, R. S., Hegele, R. A., Fazio, S., & Cannon, C. P. (2018) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2018.04.054 · Cited by 264
Self-citationHypertriglyceridemia and atherosclerosis
Peng, J., Luo, F., Ruan, G., Peng, R., & Li, X. (2017) · Lipids in Health and Disease · doi:10.1186/s12944-017-0625-0 · Cited by 268
Helgadóttir, A., Grétarsdóttir, S., Þorleifsson, G., Hjartarson, E., Sigurðsson, Á., Magnusdottir, A., Jónasdóttir, Á., Kristjansson, H., Sulem, P., Oddsson, Á., et al. (2016) · Nature Genetics · doi:10.1038/ng.3561 · Cited by 248
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
Self-citationTrinder, M., Francis, G. A., & Brunham, L. R. (2020) · JAMA Cardiology · doi:10.1001/jamacardio.2019.5954 · Cited by 253
Genetics of Common, Complex Coronary Artery Disease
Musunuru, K., & Kathiresan, S. (2019) · Cell · doi:10.1016/j.cell.2019.02.015 · Cited by 246
Self-citationTriglyceride-rich lipoproteins as a causal factor for cardiovascular disease
Toth, P. (2016) · Vascular Health and Risk Management · doi:10.2147/vhrm.s104369 · Cited by 237
Singh, T., Walters, J. T. R., Johnstone, M., Curtis, D., Suvisaari, J., Torniainen, M., Rees, E., Iyegbe, C., Blackwood, D., McIntosh, A. M., et al. (2017) · Nature Genetics · doi:10.1038/ng.3903 · Cited by 231
Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United States
deGoma, E. M., Ahmad, Z., O'Brien, E. C., Kindt, I., Shrader, P., Newman, C. B., Pokharel, Y., Baum, S. J., Hemphill, L., Hudgins, L. C., et al. (2016) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.116.001381 · Cited by 225
Self-citationDemers, A., Samami, S., Lauzier, B., Des Rosiers, C., Sock, E. T. N., Ong, H., & Mayer, G. (2015) · Arteriosclerosis, Thrombosis, and Vascular Biology · doi:10.1161/atvbaha.115.306032 · Cited by 221
Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically
Wang, J., Dron, J. S., Ban, M. R., Robinson, J. F., McIntyre, A. D., Alazzam, M., Zhao, P., Dilliott, A. A., Cao, H., Huff, M. W., et al. (2016) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.116.308027 · Cited by 210
Self-citationWhole-Exome Sequencing in Adults With Chronic Kidney Disease
Lata, S., Marasà, M., Li, Y., Fasel, D. A., Groopman, E., Jobanputra, V., Rasouly, H. M., Mitrotti, A., Westland, R., Verbitsky, M., et al. (2018) · Annals of Internal Medicine · doi:10.7326/m17-1319 · Cited by 209
Rare-variant collapsing analyses for complex traits: guidelines and applications
Povysil, G., Petrovski, S., Hostyk, J. A., Aggarwal, V. S., Allen, A. S., & Goldstein, D. B. (2019) · Nature Reviews Genetics · doi:10.1038/s41576-019-0177-4 · Cited by 211
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
Self-citationPerak, A. M., Ning, H., de Ferranti, S. D., Gooding, H. C., Wilkins, J. T., & Lloyd‐Jones, D. M. (2016) · Circulation · doi:10.1161/circulationaha.116.022335 · Cited by 197
Unmet Need for Adjunctive Dyslipidemia Therapy in Hypertriglyceridemia Management
Ganda, O. P., Bhatt, D. L., Mason, R. P., Miller, M., & Boden, W. E. (2018) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2018.04.061 · Cited by 195
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
Familial hypercholesterolaemia: A global call to arms
Vallejo‐Vaz, A. J., Seshasai, S. R. K., Cole, D., Hovingh, G. K., Kastelein, J. J. P., Mata, P., Raal, F. J., Santos, R. D., Soran, H., Watts, G. F., et al. (2015) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2015.09.021 · Cited by 177
Self-citationGenetics of restless legs syndrome
Winkelmann, J., Schormair, B., Xiong, L., Dion, P. A., Rye, D. B., & Rouleau, G. A. (2002) · Elsevier eBooks · doi:10.1007/s11910-008-0033-y · Cited by 175
Kessler, T., Vilne, B., & Schunkert, H. (2016) · EMBO Molecular Medicine · doi:10.15252/emmm.201506174 · Cited by 180
Self-citationLuo, Y., de Lange, K. M., Jostins, L., Moutsianas, L., Randall, J., Kennedy, N. A., Lamb, C. A., McCarthy, S., Ahmad, T., Edwards, C., et al. (2017) · Nature Genetics · doi:10.1038/ng.3761 · Cited by 162
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
Self-citationLandmesser, U., Chapman, M. J., Farnier, M., Gencer, B., Gielen, S., Hovingh, G. K., Lüscher, T. F., Sinning, D., Tokgözoğlu, L. S., Wiklund, O., et al. (2016) · European Heart Journal · doi:10.1093/eurheartj/ehw480 · Cited by 164
Surprises from genetic analyses of lipid risk factors for atherosclerosis
Musunuru, K., & Kathiresan, S. (2016) · Circulation Research · doi:10.1161/circresaha.115.306398 · Cited by 159
Self-citationJurgens, S. J., Choi, S. H., Morrill, V. N., Chaffin, M. D., Pirruccello, J. P., Halford, J. L., Weng, L.-C. C., Nauffal, V., Roselli, C., Hall, A. W., et al. (2022) · Nature Genetics · doi:10.1038/s41588-021-01011-w · Cited by 166
Self-citationEffects of Fish n-3 PUFAs on Intestinal Microbiota and Immune System
Parolini, C. (2019) · Marine Drugs · doi:10.3390/md17060374 · Cited by 158
Aung, T., Ozaki, M., Lee, M., Schlötzer-Schrehardt, U. M., Þorleifsson, G., Mizoguchi, T., Igo, R. P., Haripriya, A., Williams, S. E. I., Astakhov, Y. S., et al. (2017) · Nature Genetics · doi:10.1038/ng.3875 · Cited by 153
Hypertriglyceridemia in the genomic era: a new paradigm
Lewis, G. F., Xiao, C., & Hegele, R. A. (2015) · Endocrine Reviews · doi:10.1210/er.2014-1062 · Cited by 152
Self-citationInherited basis of visceral, abdominal subcutaneous and gluteofemoral fat depots
Agrawal, S., Wang, M., Klarqvist, M. D. R., Smith, K., Shin, J. H., Dashti, H., Diamant, N., Choi, S. H., Jurgens, S. J., Ellinor, P. T., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-30931-2 · Cited by 154
Backer, G. D., Besseling, J., Chapman, J., Hovingh, G. K., Kastelein, J. J. P., Kotseva, K., Ray, K. K., Reiner, Ž., Wood, D., & Bacquer, D. D. (2015) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2015.04.809 · Cited by 151
Self-citationNanchen, D., Gencer, B., Auer, R., Räber, L., Stefanini, G. G., Klingenberg, R., Schmied, C. M., Cornuz, J., Müller, O., Vogt, P., et al. (2015) · European Heart Journal · doi:10.1093/eurheartj/ehv289 · Cited by 147
A frequent oligogenic involvement in congenital hypothyroidism
de Filippis, T., Gelmini, G., Paraboschi, E., Vigone, M. C., Di Frenna, M., Marelli, F., Bonomi, M., Cassio, A., Larizza, D., Moro, M., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx145 · Cited by 145
Self-citationGenetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome
Amor‐Salamanca, A., Castillo, S., González‐Vioque, E., Domínguez, F., Quintana, L., Lluís-Ganella, C., Escudier-Villa, J. M., Ortega, J., Lara‐Pezzi, E., Alonso‐Pulpón, L., et al. (2017) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2017.08.009 · Cited by 150
Cho, M. H., Hobbs, B. D., & Silverman, E. K. (2022) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(21)00510-5 · Cited by 146
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts
Cirulli, E. T., White, S., Read, R. W., Elhanan, G., Metcalf, W. J., Tanudjaja, F., Fath, D. M., Sandoval, E., Isaksson, M., Schlauch, K. A., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-14288-y · Cited by 140
Protective alleles and modifier variants in human health and disease
Harper, A. R., Nayee, S., & Topol, E. J. (2015) · Nature Reviews Genetics · doi:10.1038/nrg4017 · Cited by 134
Benn, M., & Nordestgaard, B. G. (2018) · Cardiovascular Research · doi:10.1093/cvr/cvy045 · Cited by 133
SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease
Nicolas, G., Charbonnier, C., Wallon, D., Quenez, O., Bellenguez, C., Grenier-Boley, B., Rousseau, S., Richard, A.-C., Rovelet-Lecrux, A., Le Guennec, K., et al. (2016) · Molecular Psychiatry · doi:10.1038/mp.2015.121 · Cited by 129
Ferguson, J. F., Allayee, H., Gerszten, R. E., Ideraabdullah, F., Kris‐Etherton, P. M., Ordovás, J. M., Rimm, E. B., Wang, T. J., & Bennett, B. J. (2016) · Circulation Cardiovascular Genetics · doi:10.1161/hcg.0000000000000030 · Cited by 128
Self-citationToward an international consensus—Integrating lipoprotein apheresis and new lipid-lowering drugs
Stefanutti, C., Julius, U., Watts, G. F., Harada‐Shiba, M., Cossu, M., Schettler, V. J. J., Silvestro, G. D., Soran, H., van Lennep, J. E. R., Pisciotta, L., et al. (2017) · Journal of clinical lipidology · doi:10.1016/j.jacl.2017.04.114 · Cited by 119
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
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
Self-citationGasc, C., Peyretaillade, É., & Peyret, P. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw309 · Cited by 119
Genetic Architecture of Familial Hypercholesterolaemia
Sharifi, M., Futema, M., Nair, D. R., & Humphries, S. E. (2017) · Current Cardiology Reports · doi:10.1007/s11886-017-0848-8 · Cited by 116
Vallejo‐Vaz, A. J., Akram, A., Seshasai, S. R. K., Cole, D., Watts, G. F., Hovingh, G. K., Kastelein, J. J. P., Mata, P., Raal, F. J., Santos, R. D., et al. (2016) · Atherosclerosis Supplements · doi:10.1016/j.atherosclerosissup.2016.10.001 · Cited by 113
Self-citationBondareva, O., Rodríguez‐Aguilera, J. R., de Oliveira, F. S., Liao, L., Rose, A., Gupta, A., Singh, K., Geier, F. M., Schuster, J., Boeckel, J., et al. (2022) · Nature Metabolism · doi:10.1038/s42255-022-00674-x · Cited by 116
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
Self-citationKhetarpal, 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
Self-citationExome-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
Familial Hypercholesterolemia Among Young Adults With Myocardial Infarction
Singh, A., Gupta, A., Collins, B., Qamar, A., Monda, K. L., Biery, D. W., López, J. A. G., de Ferranti, S. D., Plutzky, J., Cannon, C. P., et al. (2019) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2019.02.059 · Cited by 108
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
Self-citationCoronary 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
Self-citationMaina, S., Misinzo, G., Bakari, G. G., & Kim, H. (2020) · Molecules · doi:10.3390/molecules25163682 · Cited by 103
Genetics of Venous Thrombosis: update in 2015
Suchon, P., Trégouët, D., & Morange, P. (2015) · Thrombosis and Haemostasis · doi:10.1160/th15-05-0410 · Cited by 103
Xu, H., Wang, Z., Liu, L., Zhang, B., & Bao, L. (2019) · Journal of Cellular Biochemistry · doi:10.1002/jcb.27399 · Cited by 97
RetractedGenetics of atrial fibrillation: from families to genomes
Christophersen, I. E., & Ellinor, P. T. (2016) · Journal of Human Genetics · doi:10.1038/jhg.2015.44 · Cited by 92
Auer, P. L., Reiner, A. P., Wang, G., Kang, H. M., Abecasis, G. R., Altshuler, D., Bamshad, M. J., Nickerson, D. A., Tracy, R. P., Rich, S. S., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.08.012 · Cited by 99
Self-citation
Metadata
- Authors
- Do, R., Stitziel, N. O., Won, H.-H., Jørgensen, A. B., Duga, S., Angelica Merlini, P., Kiezun, A., Farrall, M., Goel, A., Zuk, O., Guella, I., Asselta, R., Lange, L. A., Peloso, G. M., Auer, P. L., NHLBI Exome Sequencing Project, Girelli, D., Martinelli, N., Farlow, D. N., DePristo, M. A., Roberts, R., Stewart, A. F. R., Saleheen, D., Danesh, J., Epstein, S. E., Sivapalaratnam, S., Kees Hovingh, G., Kastelein, J. J., Samani, N. J., Schunkert, H., Erdmann, J., Shah, S. H., Kraus, W. E., Davies, R., Nikpay, M., Johansen, C. T., Wang, J., Hegele, R. A., Hechter, E., Marz, W., Kleber, M. E., Huang, J., Johnson, A. D., Li, M., Burke, G. L., Gross, M., Liu, Y., Assimes, T. L., Heiss, G., Lange, E. M., Folsom, A. R., Taylor, H. A., Olivieri, O., Hamsten, A., Clarke, R., Reilly, D. F., Yin, W., Rivas, M. A., Donnelly, P., Rossouw, J. E., Psaty, B. M., Herrington, D. M., Wilson, J. G., Rich, S. S., Bamshad, M. J., Tracy, R. P., Adrienne Cupples, L., Rader, D. J., Reilly, M. P., Spertus, J. A., Cresci, S., Hartiala, J., Wilson Tang, W. H., Hazen, S. L., Allayee, H., Reiner, A. P., Carlson, C. S., Kooperberg, C., Jackson, R. D., Boerwinkle, E., Lander, E. S., Schwartz, S. M., Siscovick, D. S., McPherson, R., Tybjaerg-Hansen, A., Abecasis, G. R., Watkins, H., Nickerson, D. A., Ardissino, D., Sunyaev, S. R., O'Donnell, C. J., Altshuler, D., Gabriel, S., & Kathiresan, S.
- Affiliations
- Broad Institute (US)
- Washington University in St. Louis (US)
- University of Copenhagen (DK)
- University of Milan (IT)
- Centre for Human Genetics (GB)
- University of North Carolina at Chapel Hill (US)
- Fred Hutch Cancer Center (US)
- University of Verona (IT)
- Ottawa Heart Institute (CA)
- University of Cambridge (GB)
- Amsterdam UMC Location University of Amsterdam (NL)
- University of Leicester (GB)
- German Centre for Cardiovascular Research (DE)
- Duke University (US)
- Western University (CA)
- Heidelberg University (DE)
- National Heart, Lung, and Blood Institute (US)
- University of Alabama at Birmingham (US)
- University of Minnesota (US)
- Stanford Medicine (US)
- Karolinska Institutet (SE)
- Merck & Co., Inc., Rahway, NJ, USA (United States) (US)
- Group Health Cooperative (US)
- University of Mississippi Medical Center (US)
- Seattle Children's Hospital (US)
- University of Vermont (US)
- Boston University (US)
- University of Pennsylvania (US)
- University of Missouri–Kansas City (US)
- University of Southern California (US)
- University of Washington (US)
- The Ohio State University (US)
- ORCID
- Do, Ron
- Stitziel, Nathan O.
- Won, Hong-Hee
- Duga, Stefano
- Farrall, Martin
- Goel, Anuj
- Zuk, Or
- Asselta, Rosanna
- Peloso, Gina M.
- Auer, Paul L.
- Girelli, Domenico
- Martinelli, Nicola
- Roberts, Robert
- Saleheen, Danish
- Danesh, John
- Sivapalaratnam, Suthesh
- Kastelein, John J.
- Samani, Nilesh J.
- Schunkert, Heribert
- Erdmann, Jeanette
- Shah, Svati H.
- Kraus, William E.
- Nikpay, Majid
- Wang, Jian
- Hegele, Robert A.
- Kleber, Marcus E.
- Huang, Jie
- Johnson, Andrew D.
- Li, Mingyao
- Assimes, Themistocles L.
- Heiss, Gerardo
- Lange, Ethan M.
- Folsom, Aaron R.
- Taylor, Herman A.
- Olivieri, Oliviero
- Hamsten, Anders
- Clarke, Robert
- Reilly, Dermot F.
- Rivas, Manuel A.
- Donnelly, Peter
- Rossouw, Jacques E.
- Psaty, Bruce M.
- Herrington, David M.
- Wilson, James G.
- Rich, Stephen S.
- Bamshad, Michael J.
- Tracy, Russell P.
- Rader, Daniel J.
- Reilly, Muredach P.
- Spertus, John A.
- Cresci, Sharon
- Hartiala, Jaana
- Hazen, Stanley L.
- Allayee, Hooman
- Reiner, Alex P.
- Carlson, Christopher S.
- Kooperberg, Charles
- Jackson, Rebecca D.
- Boerwinkle, Eric
- Lander, Eric S.
- Siscovick, David S.
- McPherson, Ruth
- Watkins, Hugh
- Nickerson, Deborah A.
- Ardissino, Diego
- Sunyaev, Shamil R.
- Altshuler, David
- Gabriel, Stacey
- Kathiresan, Sekar
- Venue
- Nature
- Published
- 2014-12-10
- Volume
- 518
- Issue
- 7537
- Pages
- 102-106
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC4319990
- OpenAlex
- W2050838276
- Cited by
- 650
- References
- 55
- Citations by year
- 2026: 22 · 2025: 14 · 2024: 29 · 2023: 30 · 2022: 50 · 2021: 42 · 2020: 64 · 2019: 68 · 2018: 63 · 2017: 87 · 2016: 111 · 2015: 65 · 2014: 2
- FWCI
- 87.31
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
- mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion, other-oa)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- Funders
- Massachusetts General Hospital (R01HL107816)
- Cleveland Clinic
- Foundation for Barnes-Jewish Hospital
- Donovan Family Foundation
- Wellcome Trust (095552, 090532)
- National Institute for Health and Care Research (NF-SI-0512-10165, NF-SI-0611-10170, NF-SI-0508-10235)
- British Heart Foundation (RG/08/014/24067)
- Parkinson's UK (G-0907)
- Fondation Leducq (T32HL007208)
- National Institutes of Health (1s10od020069-01, 1rc2hl103010-01, UL1TR000439, HL076491)
- Canadian Institutes of Health Research
- Medical Research Council (MR/L003120/1)
- National Institute on Aging (P30AG010129, R01AG033193)
- National Heart, Lung, and Blood Institute (HL 102923, RC2HL102925, HL-102924, K08HL114642, RC2HL102926, RC2HL102923, RC2HL-103010, HL 103010, P01HL076491, P01HL098055, RC2HL102924, T32HL00720, R01HL107816, T32HL007208, T32HL007604)
- National Human Genome Research Institute (U54HG003067)
- National Institute of Nursing Research (R01NR013396)
- National Institute of Neurological Disorders and Stroke (R01NS017950)
- National Center for Advancing Translational Sciences
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipoproteins and Cardiovascular Health
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Keywords
- early-onset myocardial infarction, LDL receptor, APOA5, rare variants, apolipoprotein A-V, LDL cholesterol, triglycerides, triglyceride-rich lipoproteins, genetic risk, exome sequencing, null alleles, cardiovascular genetics, familial hypercholesterolemia
- MeSH terms
- Apolipoprotein A-V, Age Factors, Alleles, Apolipoproteins A, Coronary Artery Disease, Female, Genetics, Population, Heterozygote, Humans, Cholesterol, LDL, Male, Middle Aged, Mutation, Myocardial Infarction, Receptors, LDL, Triglycerides, United States, Case-Control Studies, Age of Onset, Genetic Predisposition to Disease, National Heart, Lung, and Blood Institute (U.S.), 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
