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Plasma lipoproteins: genetic influences and clinical implications
Abstract
Susceptibility to the growing global public health problem of cardiovascular disease is associated with levels of plasma lipids and lipoproteins. Several experimental strategies have helped us to clarify the genetic architecture of these complex traits, including classical studies of monogenic dyslipidaemias, resequencing, phenomic analysis and, more recently, genome-wide association studies and analysis of metabolic networks. The genetic basis of plasma lipoprotein levels can now be modelled as a mosaic of contributions from multiple DNA sequence variants, both rare and common, with varying effect sizes. In addition to filling gaps in our understanding of plasma lipoprotein metabolism, the recent genetic advances will improve our ability to classify, diagnose and treat dyslipidaemias.
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“elevated plasma LDL-C and TG levels are major risk factors (Defesche et al., 2017; Do et al., 2013; Hegele, 2009; Hokanson and Austin, 1996; Rader, 2016)”
From GPR146 Deficiency Protects against Hypercholesterolemia and Atherosclerosis (2019) · cites this paper as Hegele, 2009
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“In humans and mice, genetic APOB variants associated with increased levels of apoB are also associated with unusually high plasma concentrations of cholesterol and LDL, which in turn contribute to hypercholesterolemia and heart disease in humans (Benn, 2009; Hegele, 2009).”
From Population genomics reveal recent speciation and rapid evolutionary adaptation in polar bears (2014) · cites this paper as Hegele, 2009
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Metadata
- Authors
- Hegele, R. A.
- Affiliations
- Western University (CA)
- Corresponding author
- Hegele, Robert A.
- ORCID
- Hegele, Robert A.
- Venue
- Nature Reviews Genetics
- Published
- 2009-02
- Volume
- 10
- Issue
- 2
- Pages
- 109-121
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W2068700927
- Cited by
- 462
- References
- 107
- Citations by year
- 2026: 10 · 2025: 11 · 2024: 19 · 2023: 21 · 2022: 32 · 2021: 22 · 2020: 24 · 2019: 19 · 2018: 27 · 2017: 19 · 2016: 31 · 2015: 33 · 2014: 36 · 2013: 26 · 2012: 31
- FWCI
- 7.03
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- Scholarship@Western (Western University) (submittedVersion)
- 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
- serum lipoproteins, plasma lipids, genetic architecture, cardiovascular risk, dyslipidemia, genome-wide association study, rare variants, lipid metabolism, metabolic networks, phenomics, resequencing, disease diagnosis and treatment
- MeSH terms
- Animals, Cholesterol, Humans, Hyperlipoproteinemias, Lipoproteins, Models, Biological, Triglycerides, Genomics, Dyslipidemias
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