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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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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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