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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.
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“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]
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“In contrast, apo A-V, which promotes LPL activity through partially defined mechanisms, is a strong genetically validated target for ASCVD.95,96”
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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-citationAntman, E. M., Bassand, J., Klein, W. W., Ohman, M. E., Sendón, J. L. L., Rydén, L., Simoons, M. L., & Tendera, M. (2000) · Journal of the American College of Cardiology · doi:10.1016/s0735-1097(00)00804-4 · Cited by 4,824
Howie, B. N., Donnelly, P., & Marchini, J. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000529 · Cited by 3,928
Self-citationConsed: a graphical tool for sequence finishing.Preprint
Gordon, D., Abajian, C., & Green, P. (1998) · Genome Research · doi:10.1101/gr.8.3.195 · Cited by 3,706
Biological, clinical and population relevance of 95 loci for blood lipids
Teslovich, T. M., Musunuru, K., Smith, A. V., Edmondson, A. C., Stylianou, I. M., Koseki, M., Pirruccello, J. P., Ripatti, S., Chasman, D. I., Willer, C. J., et al. (2010) · Nature · doi:10.1038/nature09270 · Cited by 3,487
Self-citationMutations 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
Variance component model to account for sample structure in genome-wide association studies
Kang, H. M., Sul, J. H., Service, S. K., Zaitlen, N. A., Kong, S.-Y., Freimer, N. B., Sabatti, C., & Eskin, E. (2010) · Nature Genetics · doi:10.1038/ng.548 · Cited by 2,817
A new multipoint method for genome-wide association studies by imputation of genotypes
Marchini, J., Howie, B., Myers, S., McVean, G., & Donnelly, P. (2007) · Nature Genetics · doi:10.1038/ng2088 · Cited by 2,609
Self-citationGenomewide Association Analysis of Coronary Artery Disease
Samani, N. J., Erdmann, J., Hall, A. S., Hengstenberg, C., Mangino, M., Mayer, B., Dixon, R. J., Meitinger, T., Braund, P., Wichmann, H.-E., et al. (2007) · New England Journal of Medicine · doi:10.1056/nejmoa072366 · Cited by 2,044
Self-citationLarge-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
Self-citationBerge, K. E., Tian, H., Graf, G. A., Yu, L., Grishin, N. V., Schultz, J. R., Kwiterovich, P. O., Shan, B., Barnes, R., & Hobbs, H. H. (2000) · Science · doi:10.1126/science.290.5497.1771 · Cited by 1,645
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
Self-citationEvolution and functional impact of rare coding variation from deep sequencing of human exomes
Tennessen, J. A., Bigham, A. W., O’Connor, T. D., Fu, W., Kenny, E. E., Gravel, S., McGee, S., Do, R., Liu, X., Jun, G., et al. (2012) · Science · doi:10.1126/science.1219240 · Cited by 1,613
Self-citationA Common Variant on Chromosome 9p21 Affects the Risk of Myocardial Infarction
Helgadottir, A., Thorleifsson, G., Manolescu, A., Gretarsdottir, S., Blondal, T., Jonasdottir, A., Jonasdottir, A., Sigurdsson, A., Baker, A., Palsson, A., et al. (2007) · Science · doi:10.1126/science.1142842 · Cited by 1,594
Self-citationA Common Allele on Chromosome 9 Associated with Coronary Heart Disease
McPherson, R., Pertsemlidis, A., Kavaslar, N., Stewart, A., Roberts, R., Cox, D. R., Hinds, D. A., Pennacchio, L. A., Tybjaerg-Hansen, A., Folsom, A. R., et al. (2007) · Science · doi:10.1126/science.1142447 · Cited by 1,587
Self-citationLi, B., & Leal, S. M. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.06.024 · Cited by 1,527
Goldstein, J. L., Schrott, H. G., Hazzard, W. R., Bierman, E. L., & Motulsky, A. G. (1973) · Journal of Clinical Investigation · doi:10.1172/jci107332 · Cited by 1,444
Gnirke, A., Melnikov, A., Maguire, J., Rogov, P., LeProust, E. M., Brockman, W., Fennell, T., Giannoukos, G., Fisher, S., Russ, C., et al. (2009) · Nature Biotechnology · doi:10.1038/nbt.1523 · Cited by 1,433
Self-citationA polygenic burden of rare disruptive mutations in schizophrenia
Purcell, S. M., Moran, J. L., Fromer, M., Ruderfer, D., Solovieff, N., Roussos, P., O’Dushlaine, C., Chambert, K., Bergen, S. E., Kähler, A., et al. (2014) · Nature · doi:10.1038/nature12975 · Cited by 1,385
Self-citationCommon variants at 30 loci contribute to polygenic dyslipidemia
Kathiresan, S., Willer, C. J., Peloso, G. M., Demissie, S., Musunuru, K., Schadt, E. E., Kaplan, L., Bennett, D., Li, Y., Tanaka, T., et al. (2009) · Nature Genetics · doi:10.1038/ng.291 · Cited by 1,364
Self-citationGenetic Susceptibility to Death from Coronary Heart Disease in a Study of Twins
Marenberg, M. E., RISCH, N. J., Berkman, L. F., Floderus, B., & Fairé, U. D. (1994) · New England Journal of Medicine · doi:10.1056/nejm199404143301503 · Cited by 1,256
Remnant Cholesterol as a Causal Risk Factor for Ischemic Heart Disease
Varbo, A., Benn, M., Tybjærg-Hansen, A., Jørgensen, A. B., Frikke-Schmidt, R., & Nordestgaard, B. G. (2013) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2012.08.1026 · Cited by 1,115
Self-citationMyocardial Infarction Genetics Consortium (2009) · Nature Genetics · doi:10.1038/ng.327 · Cited by 1,088
Self-citationLoss-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
Prediction of deleterious human alleles
Sunyaev, S. R. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.6.591 · Cited by 1,053
Self-citationAn Apolipoprotein Influencing Triglycerides in Humans and Mice Revealed by Comparative Sequencing
Pennacchio, L. A., Olivier, M., Hubacek, J. A., Cohen, J. C., Cox, D. R., Fruchart, J.-C., Krauss, R. M., & Rubin, E. M. (2001) · Science · doi:10.1126/science.1064852 · Cited by 921
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
Self-citationCommon variants associated with plasma triglycerides and risk for coronary artery disease
Do, R., Willer, C. J., Schmidt, E. M., Sengupta, S., Gao, C., Peloso, G. M., Gustafsson, S., Kanoni, S., Ganna, A., Chen, J., et al. (2013) · Nature Genetics · doi:10.1038/ng.2795 · Cited by 862
Self-citationParental Cardiovascular Disease as a Risk Factor for Cardiovascular Disease in Middle-aged Adults
Lloyd‐Jones, D. M., Nam, B., D’Agostino, R. B., Levy, D. A., Murabito, J. M., Wang, T. J., Wilson, P. W. F., & O’Donnell, C. J. (2004) · JAMA · doi:10.1001/jama.291.18.2204 · Cited by 833
Self-citationTriglyceride-mediated pathways and coronary disease: collaborative analysis of 101 studies
(2010) · The Lancet · doi:10.1016/s0140-6736(10)60545-4 · Cited by 716
Pollin, T. I., Damcott, C. M., Shen, H., Ott, S. H., Shelton, J., Horenstein, R. B., Post, W., McLenithan, J. C., Bielak, L. F., Peyser, P. A., et al. (2008) · Science · doi:10.1126/science.1161524 · Cited by 688
Fisher, S., Barry, A. J., Abreu, J., Minie, B., Nolan, J., Delorey, T. M., Young, G., Fennell, T. J., Allen, A., Ambrogio, L., et al. (2011) · Genome biology · doi:10.1186/gb-2011-12-1-r1 · Cited by 676
Self-citationThe Coronary Artery Disease (C4D) Genetics Consortium (2011) · Nature Genetics · doi:10.1038/ng.782 · Cited by 674
Self-citationSORIA, L. F., Ludwig, E. H., Clarke, H. R. G., Vega, G. L., Grundy, S. M., & McCarthy, B. J. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.2.587 · Cited by 640
Garcia, C. K., Wilund, K., Arca, M., Zuliani, G., Fellin, R., Maioli, M., Calandra, S., Bertolini, S., Cossu, F., Grishin, N., et al. (2001) · Science · doi:10.1126/science.1060458 · Cited by 624
A Common Allele on Chromosome 9 Associated With Coronary Heart Disease
McPherson, R., Pertsemlidis, A., Kavaslar, N., Stewart, A. F. R., Roberts, R., Cox, D., Hinds, D. A., Pennacchio, L. A., Tybjærg‐Hansen, A., Folsom, A. R., et al. (2007) · Obstetrical & Gynecological Survey · doi:10.1097/01.ogx.0000279314.45442.bb · Cited by 524
Self-citationJun, G., Flickinger, M., Hetrick, K. N., Romm, J. M., Doheny, K. F., Abecasis, G. R., Boehnke, M., & Kang, H. M. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.09.004 · Cited by 484
Self-citationLehrman, M. A., Schneider, W. J., Südhof, T. C., Brown, M. S., Goldstein, J. L., & Russell, D. W. (1985) · Science · doi:10.1126/science.3155573 · Cited by 456
Leigh, S. E. A., Foster, A. H., Whittall, R., Hubbart, C., & Humphries, S. E. (2008) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2008.00436.x · Cited by 237
Association between a specific apo B mutation and familial defective apoB100
Soria, L. (1989) · Medical Entomology and Zoology · Cited by 212
Power of deep, all-exon resequencing for discovery of human trait genes
Kryukov, G. V., Shpunt, A., Stamatoyannopoulos, J. A., & Sunyaev, S. R. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0812824106 · Cited by 157
Self-citationAutomating sequence-based detection and genotyping of SNPs from diploid samples
Stephens, M., Sloan, J. S., Robertson, P. D., Scheet, P. A., & Nickerson, D. A. (2006) · Nature Genetics · doi:10.1038/ng1746 · Cited by 145
Self-citationStrong association of the APOA5-1131T>C gene variant and early-onset acute myocardial infarction
Caterina, R. D., Talmud, P. J., Merlini, P. A., Foco, L., Pastorino, R., Altshuler, D., Mauri, F., Peyvandi, F., Lina, D., Kathiresan, S., et al. (2010) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2010.11.011 · Cited by 47
Self-citationAlpert, J., Antman, E., Apple, F., Armstrong, P. W., Bassand, J., de Luna, A. D., Beller, G., Breithardt, G., Chaitman, B., Clemmensen, P., et al. (2000) · European Heart Journal · doi:10.1053/euhj.2000.2305 · Cited by 37
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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 ›
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