Association of rare and common variation in the lipoprotein lipase gene with coronary artery disease
Open accessAbstract
Importance: The activity of lipoprotein lipase (LPL) is the rate-determining step in clearing triglyceride-rich lipoproteins from the circulation. Mutations that damage the LPL gene (LPL) lead to lifelong deficiency in enzymatic activity and can provide insight into the relationship of LPL to human disease. Objective: To determine whether rare and/or common variants in LPL are associated with early-onset coronary artery disease (CAD). Design, Setting, and Participants: In a cross-sectional study, LPL was sequenced in 10 CAD case-control cohorts of the multinational Myocardial Infarction Genetics Consortium and a nested CAD case-control cohort of the Geisinger Health System DiscovEHR cohort between 2010 and 2015. Common variants were genotyped in up to 305 699 individuals of the Global Lipids Genetics Consortium and up to 120 600 individuals of the CARDIoGRAM Exome Consortium between 2012 and 2014. Study-specific estimates were pooled via meta-analysis. Exposures: Rare damaging mutations in LPL included loss-of-function variants and missense variants annotated as pathogenic in a human genetics database or predicted to be damaging by computer prediction algorithms trained to identify mutations that impair protein function. Common variants in the LPL gene region included those independently associated with circulating triglyceride levels. Main Outcomes and Measures: Circulating lipid levels and CAD. Results: Among 46 891 individuals with LPL gene sequencing data available, the mean (SD) age was 50 (12.6) years and 51% were female. A total of 188 participants (0.40%; 95% CI, 0.35%-0.46%) carried a damaging mutation in LPL, including 105 of 32 646 control participants (0.32%) and 83 of 14 245 participants with early-onset CAD (0.58%). Compared with 46 703 noncarriers, the 188 heterozygous carriers of an LPL damaging mutation displayed higher plasma triglyceride levels (19.6 mg/dL; 95% CI, 4.6-34.6 mg/dL) and higher odds of CAD (odds ratio = 1.84; 95% CI, 1.35-2.51; P < .001). An analysis of 6 common LPL variants resulted in an odds ratio for CAD of 1.51 (95% CI, 1.39-1.64; P = 1.1 × 10-22) per 1-SD increase in triglycerides. Conclusions and Relevance: The presence of rare damaging mutations in LPL was significantly associated with higher triglyceride levels and presence of coronary artery disease. However, further research is needed to assess whether there are causal mechanisms by which heterozygous lipoprotein lipase deficiency could lead to coronary artery disease.
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Mendelian randomization analyses confirm a causal relationship between lifelong TRL elevation and ASCVD.
“Observational cohorts demonstrate that higher TG and remnant cholesterol predict cardiovascular events independently of LDL-C, while Mendelian randomization analyses confirm a causal relationship between lifelong TRL elevation and ASCVD.”
From Targeting triglycerides for cardiovascular risk reduction (2026) · cites this paper as [59]
The Results (page unavailable) associate damaging LPL variants with higher triglycerides and remnant cholesterol and greater odds of early-onset coronary artery disease. The Discussion (page unavailable) says lifelong changes in lipoprotein lipase activity are likely to affect coronary risk, but it does not claim to confirm a causal relationship between lifelong elevation of all triglyceride-rich lipoproteins and ASCVD broadly. (LLM, conf=0.86)
Experimental — accuracy not yet measuredRare loss-of-function mutations in APOC3, ANGPTL3, and ANGPTL4 are associated with lower triglyceride levels and a corresponding lower risk of cardiovascular disease.
“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 <i>LPL</i> Variants and LDL-C–Lowering <i>LDLR</i> Variants With Risk of Coronary Heart Disease (2019) · cites this paper as [11]
The Discussion (page not available in our copy) identifies APOC3 and ANGPTL4 as LPL inhibitors and says rare inactivating mutations in those genes confer substantial vascular protection. It does not make the corresponding claim about ANGPTL3 or establish lower triglyceride levels for mutations in all three genes; its triglyceride analysis concerns variants in LPL. (LLM, conf=0.87)
Experimental — accuracy not yet measuredRare loss-of-function mutations in the LPL gene are associated with higher plasma triglyceride levels and a higher risk of cardiovascular disease.
“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 <i>LPL</i> Variants and LDL-C–Lowering <i>LDLR</i> Variants With Risk of Coronary Heart Disease (2019) · cites this paper as [11]
The Results (page unavailable) associate rare damaging LPL mutations with higher plasma triglycerides and greater odds of early-onset coronary artery disease (CAD); the CAD association was most pronounced for loss-of-function mutations. However, the triglyceride finding pools loss-of-function and damaging missense mutations, rather than establishing it for loss-of-function mutations alone. The study also assessed early-onset CAD, not cardiovascular disease generally. (LLM, conf=0.84)
Experimental — accuracy not yet measuredMendelian randomization studies focused on variants in the genes encoding apoAV, apoCIII, lipoprotein lipase, and angiopoietin-like proteins 3, 4, and 8 have been highly informative.
“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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- Authors
- 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., Borecki, I. B., Asselta, R., Duga, S., Merlini, P. A., Correa, A., Kessler, T., Wilson, J. G., Bown, M. J., Hall, A. S., Braund, P. S., Carey, D. J., Murray, M. F., Kirchner, H. L., Leader, J. B., Lavage, D. R., Manus, J. N., Hartzel, D. N., Samani, N. J., Schunkert, H., Marrugat, J., Elosua, R., McPherson, R., Farrall, M., Watkins, H., Lander, E. S., Rader, D. J., Danesh, J., Ardissino, D., Gabriel, S., Willer, C., Abecasis, G. R., Saleheen, D., Dewey, F. E., Kathiresan, S., & for the Myocardial Infarction Genetics Consortium, D. S. G.
- Affiliations
- Broad Institute (US)
- Samsung Medical Center (KR)
- Regeneron (United States) (US)
- Pennsylvania State University (US)
- Washington University in St. Louis (US)
- Humanitas University (IT)
- Azienda Socio Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda (IT)
- University of Mississippi Medical Center (US)
- German Centre for Cardiovascular Research (DE)
- University of Leicester (GB)
- University of Leeds (GB)
- Geisinger Health System (US)
- Hospital del Mar Research Institute (ES)
- Cardiovascular Epidemiology and Genetics, Hospital del Mar Research Institute, Barcelona, Spain
- University of Ottawa (CA)
- Centre for Human Genetics (GB)
- University of Pennsylvania (US)
- University of Cambridge (GB)
- University of Parma (IT)
- University of Michigan (US)
- Corresponding author
- Kathiresan, Sekar
- ORCID
- Khera, Amit V.
- Won, Hong-Hee
- Peloso, Gina M.
- O’Dushlaine, Colm
- Liu, Dajiang
- Stitziel, Nathan O.
- Natarajan, Pradeep
- Nomura, Akihiro
- Emdin, Connor A.
- Gupta, Namrata
- Borecki, Ingrid B.
- Asselta, Rosanna
- Duga, Stefano
- Correa, Adolfo
- Kessler, Thorsten
- Wilson, James G.
- Bown, Matthew J.
- Hall, Alistair S.
- Braund, Peter S.
- Carey, David J.
- Murray, Michael F.
- Kirchner, H. Lester
- Leader, Joseph B.
- Lavage, Daniel R.
- Hartzel, Dustin N.
- Samani, Nilesh J.
- Schunkert, Heribert
- Marrugat, Jaume
- McPherson, Ruth
- Farrall, Martin
- Watkins, Hugh
- Lander, Eric S.
- Rader, Daniel J.
- Danesh, John
- Ardissino, Diego
- Gabriel, Stacey
- Willer, Cristen
- Abecasis, Gonçalo R.
- Saleheen, Danish
- Kathiresan, Sekar
- Venue
- JAMA
- Publisher
- American Medical Association (AMA)
- Published
- 2017-03-07
- Volume
- 317
- Issue
- 9
- Pages
- 937
- ISSN
- 0002-9955 (ISSN-L)
- 0098-7484
- PMC
- PMC5664181
- OpenAlex
- W2594391902
- Cited by
- 198
- References
- 46
- Citations by year
- 2026: 11 · 2025: 23 · 2024: 18 · 2023: 15 · 2022: 15 · 2021: 26 · 2020: 29 · 2019: 18 · 2018: 29 · 2017: 13 · 2012: 1
- FWCI
- 18.84
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- JAMA (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Apollo (University of Cambridge) (submittedVersion)
- Figshare (submittedVersion, cc-by)
- Leicester Research Archive (University of Leicester) (submittedVersion, other-oa)
- mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich) (submittedVersion)
- Apollo
- Funders
- University of Pennsylvania
- Pennsylvania State University
- University of Ottawa
- Regeneron Pharmaceuticals
- Wellcome Trust (090532/Z/09/Z)
- School of Public Health, University of Michigan
- National Institute for Health and Care Research (NF-SI-0512-10165)
- British Heart Foundation (MR/L003120/1, CS/14/2/30841, RE/13/1/30181, RG/13/13/30194, RG/08/014/24067)
- University of Leicester
- University of Oxford
- University of Leeds
- Technische Universität München
- Humanitas University
- National Institutes of Health (1rc2hl103010-01, KL2TR001100)
- Samsung
- Perelman School of Medicine, University of Pennsylvania
- Penn State College of Medicine
- Medical Research Council (MR/L01629X/1, MR/L003120/1)
- National Heart, Lung, and Blood Institute (HHSN268201300050C, R01HL127564, RC2HL102925, HHSN268201300046C, K08HL114642, RC2HL102926, RC2HL102923, HHSN268201300048C, RC2HL-103010, HHSN268201300049C, R35HL135824, K01HL125751, RC2HL102924, HHSN268201300047C, R01HL109946, R01HL131961)
- National Human Genome Research Institute (U54HG003067)
- National Center for Advancing Translational Sciences
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- lipoprotein lipase, LPL gene, coronary artery disease, premature coronary artery disease, rare variants, loss-of-function mutations, missense mutations, common genetic variants, plasma triglycerides, lipoprotein lipase deficiency, genetic association, serum lipids
- MeSH terms
- Adult, Coronary Artery Disease, Cross-Sectional Studies, Female, Genotype, Heterozygote, Humans, Lipoprotein Lipase, Lipoproteins, Male, Middle Aged, Mutation, Triglycerides, Odds Ratio, Case-Control Studies, Age of Onset
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