Genetic determinants of plasma triglycerides: impact of rare and common mutations
Abstract
Raised plasma triglyceride (TG) levels are an independent risk factor for coronary artery disease (CAD), and thus understanding the genetic and environmental determinants of TG levels are of major importance. TG metabolism is a process for delivering free fatty acids for energy storage or b-oxidation, and involves a number of different hydrolytic enzymes and apolipoproteins (apo). The genes encoding these proteins are, therefore, candidates for determining plasma TGs. Although rare mutations in lipoprotein lipase (LPL), the major TG-hydrolyzing enzyme, and apo CII (APOC2), its essential activator, result in extremely high plasma TG levels, their low frequency means they have little impact upon TG levels in the general population. Common mutations in LPL, apo CIII (APOC3), and apo E (APOE) have the strongest effect on plasma TG levels at the population level. In addition, environmental factors such as diet, obesity, and smoking interact with genetic determinants of TG to produce a modulating high-risk environment.
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Hypertriglyceridemia can sometimes be observed in ADH subjects, mainly because of many common genetic and environmental factors contributing to triglyceride elevation.
“Hypertriglyceridemia can sometimes be observed in ADH subjects, mainly because of the many common genetic and environmental factors contributing to triglyceride elevation (Talmud PJ 2001).”
From Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the<i>APOE</i>p.Leu167del Mutation (2013) · cites this paper as Talmud PJ 2001
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Marduel, M., Ouguerram, K., Serre, V., Bonnefont-Rousselot, D., Marques-Pinheiro, A., Erik Berge, K., Devillers, M., Luc, G., Lecerf, J.-M., Tosolini, L., et al. (2013) · Human Mutation · doi:10.1002/humu.22215 · Cited by 133 · see citing works
- Authors
- Talmud, P. J.
- Affiliations
- The Royal Free Hospital (GB)
- Corresponding author
- Talmud, Philippa J.
- ORCID
- Talmud, Philippa J.
- Venue
- Current Atherosclerosis Reports
- Published
- 2001-05
- Volume
- 3
- Issue
- 3
- Pages
- 191-199
- ISSN
- 1523-3804 (ISSN-L)
- 1534-6242
- OpenAlex
- W1996611209
- Cited by
- 27
- References
- 0
- Citations by year
- 2023: 2 · 2017: 1 · 2016: 1 · 2015: 2 · 2013: 1 · 2012: 1
- FWCI
- 0.58
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Current Atherosclerosis Reports (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- 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 › Nutrition, Genetics, and Disease
- Keywords
- plasma triglycerides, genetic factors, lipoprotein lipase, APOC2, apolipoprotein C-III, apolipoprotein E, triglyceride metabolism, apolipoproteins, coronary artery disease risk, gene-environment interaction, obesity, diet, smoking
- MeSH terms
- Animals, Humans, Mutation, Triglycerides
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