Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia
Open accessAbstract
We sequenced all protein-coding regions of the genome (the "exome") in two family members with combined hypolipidemia, marked by extremely low plasma levels of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, and triglycerides. These two participants were compound heterozygotes for two distinct nonsense mutations in ANGPTL3 (encoding the angiopoietin-like 3 protein). ANGPTL3 has been reported to inhibit lipoprotein lipase and endothelial lipase, thereby increasing plasma triglyceride and HDL cholesterol levels in rodents. Our finding of ANGPTL3 mutations highlights a role for the gene in LDL cholesterol metabolism in humans and shows the usefulness of exome sequencing for identification of novel genetic causes of inherited disorders. (Funded by the National Human Genome Research Institute and others.).
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The AGRE subjects with HABL might have familial combined hypolipidemia, which is primarily secondary to loss-of-function mutations in the genes of the angiopoietin-like proteins, including ANGPTL3.
“The AGRE subjects with HABL might have familial combined hypolipidemia, which is primarily secondary to loss-of-function mutations in the genes of the angiopoietin-like proteins, including ANGPTL3 [90–92]”
From Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits (2021) · cites this paper as [91]
The Discussion reports that two nonsense ANGPTL3 mutations were associated with low LDL cholesterol, HDL cholesterol, and triglycerides in one family, a phenotype the authors propose to call familial combined hypolipidemia. It does not establish that AGRE subjects have this condition or that the condition is primarily caused by loss-of-function mutations across angiopoietin-like protein genes. (LLM, conf=0.86)
Experimental — accuracy not yet measuredANGPTL3 is a genetically validated target for HTG to reduce ASCVD risk.
“ANGPTL3 is a genetically validated target for HTG to reduce ASCVD risk.11,77–79”
From Clinical review on triglycerides (2020) · cites this paper as [78]
Genetic loss-of-function variants in ANGPTL3 are associated with lower levels of plasma lipids, including lower triglycerides and LDL-C, and with lower rates of coronary artery disease.
“Genetic loss-of-function variants in ANGPTL3 are associated with lower levels of plasma lipids.”
From Effect of Vupanorsen on Non–High-Density Lipoprotein Cholesterol Levels in Statin-Treated Patients With Elevated Cholesterol: TRANSLATE-TIMI 70 (2022) · cites this paper as [9]
Genetic defects controlling TG metabolism, including APOC3, ANGPTL3 and ANGPTL4, linked to reduced TG are associated with reduced coronary calcification or reduced CVD risk.
“defects in genes controlling TG metabolism, including APOC3, ANGPTL3 and ANGPTL4 that have been linked to reduced TG and are associated with reduced coronary calcification25 or reduced CVD risk.26-30”
From Is Isolated Low High-Density Lipoprotein Cholesterol a Cardiovascular Disease Risk Factor?: New Insights From the Framingham Offspring Study (2016) · cites this paper as [28]
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- Authors
- Musunuru, K., Pirruccello, J. P., Do, R., Peloso, G. M., Guiducci, C., Sougnez, C., Garimella, K. V., Fisher, S., Abreu, J., Barry, A. J., Fennell, T., Banks, E., Ambrogio, L., Cibulskis, K., Kernytsky, A., Gonzalez, E., Rudzicz, N., Engert, J. C., DePristo, M. A., Daly, M. J., Cohen, J. C., Hobbs, H. H., Altshuler, D., Schonfeld, G., Gabriel, S. B., Yue, P., & Kathiresan, S.
- Affiliations
- Broad Institute (US)
- Boston University (US)
- McGill University (CA)
- The University of Texas Southwestern Medical Center (US)
- Washington University in St. Louis (US)
- ORCID
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2010-12-02
- Volume
- 363
- Issue
- 23
- Pages
- 2220-2227
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC3008575
- OpenAlex
- W2106937178
- Cited by
- 754
- References
- 24
- Citations by year
- 2026: 35 · 2025: 44 · 2024: 37 · 2023: 67 · 2022: 54 · 2021: 55 · 2020: 47 · 2019: 41 · 2018: 43 · 2017: 46 · 2016: 42 · 2015: 40 · 2014: 47 · 2013: 45 · 2012: 52
- FWCI
- 34.25
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Digital Commons@Becker (Washington University School of Medicine) (submittedVersion)
- Funders
- Donovan Family Foundation
- Broad Institute
- Sarnoff Cardiovascular Research Foundation
- National Institutes of Health
- Canadian Institutes of Health Research
- National Heart, Lung, and Blood Institute (RC2HL101864, R01HL082896, K99HL098364, RC1HL099634, RL1HL092550, RC1HL099793)
- National Human Genome Research Institute (U54HG003067, HG003067)
- 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 › Genomics and Rare Diseases
- Keywords
- ANGPTL3, compound heterozygosity, nonsense mutation, LDL cholesterol, HDL cholesterol, triglycerides, lipoprotein lipase, endothelial lipase, LDL cholesterol metabolism, exome sequencing
- MeSH terms
- Angiopoietin-like Proteins, Angiopoietin-Like Protein 3, DNA Mutational Analysis, Female, Humans, Hypobetalipoproteinemias, Genetic Linkage, Cholesterol, HDL, Cholesterol, LDL, Male, Pedigree, Codon, Nonsense, Angiopoietins
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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