ReviewClinical genetics2022
Establishing the relationship between familial dysbetalipoproteinemia and genetic variants in the APOE gene.
Review in Clinical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 19 citations in OpenAlex.
- Review
- Genetic Spectrum of Familial Hypercholesterolemia in Russian North-West Registry: Focus on Correlation Between Clinical and Genetic Diagnosis.Journal of cardiovascular development and disease · 2026Article
- Genetic Determinants of Severe Hypertriglyceridemia: Rare Variants inInternational journal of molecular sciences · 2026Article
- Pediatric Hypertriglyceridemia: Lipoprotein Metabolism, Etiology, and Management.Current pediatrics reports · 2025Article
- Research advances in current drugs targeting hyperlipidemia (Review).Molecular medicine reports · 2025Review
- Genetic and Metabolic Factors of Familial Dysbetalipoproteinemia Phenotype: Insights from a Cross-Sectional Study.International journal of molecular sciences · 2025Article
- Article
- Nutrition and Lifestyle Interventions in Managing Dyslipidemia and Cardiometabolic Risk.Nutrients · 2025Review
- Spectrum and Prevalence of RareInternational journal of molecular sciences · 2024Article
- Hypertriglyceridemia: Molecular and Genetic Landscapes.International journal of molecular sciences · 2024Review
- Article
- Clinical and biochemical features of atherogenic hyperlipidemias with different genetic basis: A comprehensive comparative study.PloS one · 2024Article
- Applicability of Diagnostic Criteria and High Prevalence of Familial Dysbetalipoproteinemia in Russia: A Pilot Study.International journal of molecular sciences · 2023Article
- Establishing the relationship between familial dysbetalipoproteinemia and genetic variants in the APOE gene.Clinical genetics · 2022Review
Corrections and comments
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Authors and funding
11 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial Dysbetalipoproteinemia (FD) is the second most common monogenic dyslipidemia and is associated with a very high cardiovascular risk due to cholesterol-enriched remnant lipoproteins. FD is usually caused by a recessively inherited variant in the APOE gene (ε2ε2), but variants with dominant inheritance have also been described. The typical dysbetalipoproteinemia phenotype has a delayed onset and requires a metabolic hit. Therefore, the diagnosis of FD should be made by demonstrating both the genotype and dysbetalipoproteinemia phenotype. Next Generation Sequencing is becoming more widely available and can reveal variants in the APOE gene for which the relation with FD is unknown or uncertain. In this article, two approaches are presented to ascertain the relationship of a new variant in the APOE gene with FD. The comprehensive approach consists of determining the pathogenicity of the variant and its causal relationship with FD by confirming a dysbetalipoproteinemia phenotype, and performing in vitro functional tests and, optionally, in vivo postprandial clearance studies. When this is not feasible, a second, pragmatic approach within reach of clinical practice can be followed for individual patients to make decisions on treatment, follow-up, and family counseling.
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