ArticleJournal of lipid research2016
Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.
Article in Journal of lipid research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 46 citations in OpenAlex.
- Unveiling proteomic and peptide-level modifications in cerebrospinal fluid and plasma in normal cognitive aging.Communications medicine · 2025Article
- Molecular dynamics of select missense mutations of Apolipoprotein E and their implications in Hyperlipoproteinemia type III.Biochemistry and biophysics reports · 2025Article
- A Novel Screening Approach for Familial Hypercholesterolemia: A Genetic Study on Patients Detected Using Preexisting Centralized Analytics.Journal of clinical medicine · 2025Article
- Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features.Journal of atherosclerosis and thrombosis · 2025Review
- Article
- A Comprehensive Review of the Genetics of Dyslipidemias and Risk of Atherosclerotic Cardiovascular Disease.Nutrients · 2025Review
- Apolipoprotein E: A Potential Prognostic and Diagnostic Biomarker for Hepatocellular Carcinoma.Journal of hepatocellular carcinoma · 2025Article
- Spectrum and Prevalence of RareInternational journal of molecular sciences · 2024Article
- Unveiling Familial Hypercholesterolemia-Review, Cardiovascular Complications, Lipid-Lowering Treatment and Its Efficacy.International journal of molecular sciences · 2024Review
- Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis.International journal of molecular sciences · 2023Review
- Genetic and molecular architecture of familial hypercholesterolemia.Journal of internal medicine · 2023Review
- Familial hypercholesterolemia in an Iranian family due to a mutation in the APOE gene (first case report).Journal of diabetes and metabolic disorders · 2022Article
- Article
- Review
- Apolipoprotein E and Atherosclerosis.Current atherosclerosis reports · 2021Review
- Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.Journal of the Endocrine Society · 2018Article
- Genetic findings in sport-related concussions: potential for individualized medicine?Concussion (London, England) · 2017Review
- Interpreting the Mechanism of APOE (p.Leu167del) Mutation in the Incidence of Familial Hypercholesterolemia; An In-silico Approach.The open cardiovascular medicine journal · 2017Review
- Variable phenotypic expression of nonsense mutation p.Thr5* in the APOE gene.Molecular genetics and metabolism reports · 2016Article
- How Much Do Lipid Guidelines Help the Clinician? Reading Between the (Guide)lines.Methodist DeBakey cardiovascular journalReview
Corrections and comments
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Authors and funding
23 authors at 14 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal dominant hypercholesterolemia (ADH) is a human disorder characterized phenotypically by isolated high-cholesterol levels. Mutations in the low density lipoprotein receptor (LDLR), APOB, and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes are well known to be associated with the disease. To characterize the genetic background associated with ADH in France, the three ADH-associated genes were sequenced in a cohort of 120 children and 109 adult patients. Fifty-one percent of the cohort had a possible deleterious variant in LDLR, 3.1% in APOB, and 1.7% in PCSK9. We identified 18 new variants in LDLR and 2 in PCSK9. Three LDLR variants, including two newly identified, were studied by minigene reporter assay confirming the predicted effects on splicing. Additionally, as recently an in-frame deletion in the APOE gene was found to be linked to ADH, the sequencing of this latter gene was performed in patients without a deleterious variant in the three former genes. An APOE variant was identified in three patients with isolated severe hypercholesterolemia giving a frequency of 1.3% in the cohort. Therefore, even though LDLR mutations are the major cause of ADH with a large mutation spectrum, APOE variants were found to be significantly associated with the disease. Furthermore, using structural analysis and modeling, the identified APOE sequence changes were predicted to impact protein function.
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