ReviewJournal of lipid research2021
Genetic testing for familial hypercholesterolemia-past, present, and future.
Review in Journal of lipid research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
30 citing papers in PubMed, 49 citations in OpenAlex.
- Prevalence and prognosis of genetically proven familial hypercholesterolemia in subjects with angiographically documented premature coronary artery disease.Scientific reports · 2026Article
- Genomic and clinical predictors of cardiovascular disease in Familial dyslipidemia: risk stratification in Egyptian adolescents and young adults.Lipids in health and disease · 2025Article
- Genetic Determinants of the Familial Hypercholesterolaemia Phenotype.Annals of human genetics · 2025Review
- Process for mainstreaming genetic cascade testing into primary and tertiary health systems in familial hypercholesterolaemia (FH), an autosomal dominant, fully penetrant disorder.Family medicine and community health · 2025Article
- Polygenic Modulation of Monogenic Diseases: Familial Hypercholesterolemia as the Exemplar.Current atherosclerosis reports · 2025Review
- Hepatic Inactivation of Carnitine Palmitoyltransferase 1a Lowers ApoB-Containing Lipoproteins in Mice.Arteriosclerosis, thrombosis, and vascular biology · 2025Article
- Pediatric Familial Hypercholesterolemia: Targeting Intestinal Absorption and Other Therapeutic Strategies.Nutrients · 2025Review
- Genetic Spectrum of Lithuanian Familial Hypercholesterolemia Patients.Journal of cardiovascular development and disease · 2025Article
- Improved Genetic Characterization of Hypercholesterolemia in Latvian Patients with Familial Hypercholesterolemia: A Combined Monogenic and Polygenic Approach Using Whole-Genome Sequencing.International journal of molecular sciences · 2024Article
- Genetic Testing for Familial Hypercholesterolemia: The Current State of Its Implementation in Canada.CJC open · 2024Article
- Gene Mutation in Patients with Familial Hypercholesterolemia and Response to Alirocumab Treatment-A Single-Centre Analysis.Journal of clinical medicine · 2024Article
- Relationship between serum apolipoprotein B and risk of all-cause and cardiovascular disease mortality in individuals with hypertension: a prospective cohort study.BMC cardiovascular disorders · 2024Article
- The association between polymorphism of LDL-R gene and ischemic stroke risk in Chinese population: A meta-analysis.Heliyon · 2024Article
- Review
- ApoB100 and Atherosclerosis: What's New in the 21st Century?Metabolites · 2024Review
- Cholesterol associated genetic risk score and acute coronary syndrome in Czech males.Molecular biology reports · 2024Article
- Methylation status ofEpigenomics · 2024Article
- A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score (PRS) Release.PloS one · 2024Article
- Modelling a two-stage adult population screen for autosomal dominant familial hypercholesterolaemia: cross-sectional analysis within the UK Biobank.BMJ public health · 2023Article
- Familial Hypercholesterolemia: From Clinical Suspicion to Novel Treatments.Reviews in cardiovascular medicine · 2023Review
Corrections and comments
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Authors and funding
4 authors at 4 institutions in 2 countries.
Funding
Abstract
In the early 1980s, the Nobel Prize winning cellular and molecular work of Mike Brown and Joe Goldstein led to the identification of the LDL receptor gene as the first gene where mutations cause the familial hypercholesterolemia (FH) phenotype. We now know that autosomal dominant monogenic FH can be caused by pathogenic variants of three additional genes (APOB/PCSK9/APOE) and that the plasma LDL-C concentration and risk of premature coronary heart disease differs according to the specific locus and associated molecular cause. It is now possible to use next-generation sequencing to sequence all exons of all four genes, processing 96 patient samples in one sequencing run, increasing the speed of test results, and reducing costs. This has resulted in the identification of not only many novel FH-causing variants but also some variants of unknown significance, which require further evidence to classify as pathogenic or benign. The identification of the FH-causing variant in an index case can be used as an unambiguous and rapid test for other family members. An FH-causing variant can be found in 20-40% of patients with the FH phenotype, and we now appreciate that in the majority of patients without a monogenic cause, a polygenic etiology for their phenotype is highly likely. Compared with those with a monogenic cause, these patients have significantly lower risk of future coronary heart disease. The use of these molecular genetic diagnostic methods in the characterization of FH is a prime example of the utility of precision or personalized medicine.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.