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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”
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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”
From Clinical review on triglycerides (2020) · cites this paper as [96]
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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
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Renee Ruhaak, L., van der Laarse, A., & Cobbaert, C. M. (2019) · Annals of Clinical Biochemistry: International Journal of Laboratory Medicine · doi:10.1177/0004563219827620 · Cited by 38
Gaudet, D., Gonciarz, M. D., Xi Zhong, S. H. E. N., Leohr, J. K., Beyer, T. P., Day, J. W., Mullins, G. R., Zhen, Y., Hartley, M., Larouche, M., et al. (2025) · Nature Medicine · doi:10.1038/s41591-025-03830-4 · Cited by 40
Han, Y. Y., Dorajoo, R., Chang, X., Wang, L., Khor, C. C., Sim, X., Cheng, C., Shi, Y., Tham, Y. C., Zhao, W., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-18214-z · Cited by 38
Shadrina, A. S., Shashkova, T., Torgasheva, A. A., Sharapov, S., Klarić, L., Pakhomov, E., Alexeev, D. G., Wilson, J. F., Tsepilov, Y. A., Joshi, P. K., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-67001-w · Cited by 38
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Tada, H., Nohara, A., Inazu, A., Mabuchi, H., & Kawashiri, M.-A. (2019) · Clinica Chimica Acta · doi:10.1016/j.cca.2018.12.014 · Cited by 37
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Auer, P. L., Reiner, A. P., & Leal, S. M. (2016) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.270 · Cited by 40
Self-citationMorin, A., Kwan, T., Ge, B., Létourneau, L., Ban, M., Tandre, K., Caron, M., Sandling, J. K., Carlsson, J., Bourque, G., et al. (2016) · BMC Medical Genomics · doi:10.1186/s12920-016-0220-7 · Cited by 38
Partnership, T. G. O. E. S., Li, Z., Wang, Z., Lee, M., Zenkel, M., Peh, K. L. E., Ozaki, M., Topouzis, F., Nakano, S., Chan, A. S. Y., et al. (2021) · JAMA · doi:10.1001/jama.2021.0507 · Cited by 36
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Elfatih, A., Mifsud, B., Syed, N., Badii, R., Mbarek, H., Abbaszadeh, F., Estivill, X., Qatar Genome Project Management, Ismail, S. I., Al‐Muftah, W., et al. (2021) · Human Mutation · doi:10.1002/humu.24278 · Cited by 36
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Larsen, L. E., Stoekenbroek, R. M., Kastelein, J. J. P., & Holleboom, A. G. (2019) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.118.312028 · Cited by 34
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Green, P., Neely, D., Humphries, S. E., Saunders, T., Gray, V., Gordon, L., Payne, J., Carter, S., Neuwirth, C. K. Y., Rees, A., et al. (2015) · Journal of Evaluation in Clinical Practice · doi:10.1111/jep.12481 · Cited by 32
Hsueh, W.-C., Nair, A. K., Kobes, S., Chen, P., Göring, H. H. H., Pollin, T. I., Malhotra, A., Knowler, W. C., Baier, L. J., & Hanson, R. L. (2017) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.117.001809 · Cited by 32
Feng, T., Feng, N., Zhu, T., Li, Q., Zhang, Q., Wang, Y., Gao, M., Zhou, B., Yu, H., Zheng, M., et al. (2020) · Journal of Experimental & Clinical Cancer Research · doi:10.1186/s13046-020-01652-5 · Cited by 32
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Ren, N., & Wang, M. (2018) · Experimental Cell Research · doi:10.1016/j.yexcr.2018.07.018 · Cited by 29
Berner, D., Hoja, U., Zenkel, M., Ross, J. J., Uebe, S., Paoli, D., Frezzotti, P., Rautenbach, R. M., Ziskind, A., Williams, S. E. I., et al. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz075 · Cited by 28
Zubair, N., Graff, M., Ambite, J. L., Bush, W. S., Kichaev, G., Lu, Y., Manichaikul, A. W., Sheu, W. H., Absher, D., Assimes, T. L., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw358 · Cited by 28
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Wierzbicki, A. S. (2018) · Wiley eBooks · doi:10.1002/9781119374800.ch44 · Cited by 26
Gelfman, S., Dugger, S. A., Moreno, C. A. M., Ren, Z., Wolock, C. J., Shneider, N. A., Phatnani, H. P., Cirulli, E. T., Lasseigne, B. N., Harris, T., et al. (2019) · Genome Research · doi:10.1101/gr.243592.118 · Cited by 29
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Bashir, B., Downie, P., Forrester, N. A., Wierzbicki, A. S., Dawson, C., Jones, A., Jenkinson, F., Mansfield, M. W., Datta, D. B. N., Delaney, H., et al. (2024) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.124.320955 · Cited by 25
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Golbus, J. R., Stitziel, N. O., Zhao, W., Xue, C., Farrall, M., McPherson, R., Erdmann, J., Deloukas, P., Watkins, H. C., Schunkert, H., et al. (2016) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.115.001374 · Cited by 25
Self-citationFutema, M., Cooper, J. A., Charakida, M., Boustred, C. R., Sattar, N. A., Deanfield, J. E., Lawlor, D. A., Timpson, N. J., Humphries, S. E., & Hingorani, A. D. (2017) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2017.03.007 · Cited by 26
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Mwesigwa, S., Moulds, J. M., Chen, A. P., Flanagan, J. M., Sheehan, V., George, A., & Hanchard, N. A. (2017) · Transfusion · doi:10.1111/trf.14431 · Cited by 25
Jiang, Y., Chen, S., McGuire, D., Chen, F., Liu, M., Iacono, W. G., Hewitt, J. K., Hokanson, J. E., Krauter, K. S., Laakso, M., et al. (2018) · PLoS Genetics · doi:10.1371/journal.pgen.1007452 · Cited by 28
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Setia, N., Movva, S., Balakrishnan, P., Biji, I. K., Sawhney, J. P. S., Puri, R., Arora, A., Puri, R. D., Saxena, R., Mishra, S., et al. (2020) · Journal of clinical lipidology · doi:10.1016/j.jacl.2019.12.010 · Cited by 26
Yang, J., Wang, Z., Liu, S., Wang, W., Zhang, H., & Gui, C. (2020) · Molecular Pharmaceutics · doi:10.1021/acs.molpharmaceut.0c00747 · Cited by 24
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Self-citationYang, Y., Beigneux, A. P., Song, W., Nguyen, L. P., Jung, H., Tu, Y., Weston, T. A., Tran, C., Xie, K., Yu, R. G., et al. (2023) · Journal of Clinical Investigation · doi:10.1172/jci172600 · Cited by 23
Wobst, J., von Ameln, S., Wolf, B. A., Wierer, M., Dang, T. A., Sager, H. B., Tennstedt, S., Hengstenberg, C., Koesling, D., Friebe, A., et al. (2016) · Basic Research in Cardiology · doi:10.1007/s00395-016-0570-5 · Cited by 23
Self-citationHiguchi, T., Oka, S., Furukawa, H., Nakamura, M., Komori, A., Abiru, S., Hashimoto, S., Shimada, M., Yoshizawa, K., Kouno, H., et al. (2019) · Scientific Reports · doi:10.1038/s41598-019-44524-5 · Cited by 23
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Tong, X., Zhao, X., Zhou, L. J., Li, M., Han, J. B., Zhao, J., Dang, X. T. T., Wang, Y. Q., Huang, M. J., Kou, Y., et al. (2022) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2022.836067 · Cited by 22
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Self-citationFan, L., Meng, H., Guo, X., Li, X., & Meng, F. (2018) · Genetics and Molecular Biology · doi:10.1590/1678-4685-gmb-2017-0075 · Cited by 21
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Dong, X. Y., Zhuang, Z., Zhao, Y., Song, Z., Xiao, W., Wang, W., Li, Y., Huang, N., Jia, J., Liu, Z., et al. (2023) · Journal of the American Heart Association · doi:10.1161/jaha.122.027934 · Cited by 22
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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
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