ArticleNutrition & metabolism2011
Familial hypercholesterolemia: the lipids or the genes?
Article in Nutrition & metabolism, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
32 citing papers in PubMed, 74 citations in OpenAlex.
- Diagnostic and Therapeutic Challenges of Homozygous and Severe Heterozygous Familial Hypercholesterolemia from Clinical Aspect-A Single-Center Study.Journal of clinical medicine · 2025Article
- Does Genotype Affect the Efficacy of PCSK9 Inhibitors in the Treatment of Familial Hypercholesterolemia?Cardiovascular drugs and therapy · 2025Review
- Clinical and biochemical features of atherogenic hyperlipidemias with different genetic basis: A comprehensive comparative study.PloS one · 2024Article
- Clinical applications of polygenic risk score for coronary artery disease through the life course.Atherosclerosis · 2023Review
- Advances for pediatricians in 2022: allergy, anesthesiology, cardiology, dermatology, endocrinology, gastroenterology, genetics, global health, infectious diseases, metabolism, neonatology, neurology, oncology, pulmonology.Italian journal of pediatrics · 2023Review
- Case Series of Genetically Confirmed Index Cases of Familial Hypercholesterolemia in Primary Care.The American journal of case reports · 2023Article
- The Clinical Importance of Differentiating Monogenic Familial Hypercholesterolemia from Polygenic Hypercholesterolemia.Current cardiology reports · 2022Review
- Detecting Familial hypercholesterolemia in children and adolescents: potential and challenges.Italian journal of pediatrics · 2022Review
- Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B.BMC cardiovascular disorders · 2022Article
- Genetic Polymorphisms in a Familial Hypercholesterolemia Population from North-Eastern Europe.Journal of personalized medicine · 2022Article
- The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group.Frontiers in genetics · 2022Article
- Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.Journal of personalized medicine · 2021Review
- PoLA/CFPiP/PCS/PSLD/PSD/PSH guidelines on diagnosis and therapy of lipid disorders in Poland 2021.Archives of medical science : AMS · 2021Article
- Prevalence of cardiovascular events in genetically confirmed versus unconfirmed familial hypercholesterolaemia.Global cardiology science & practice · 2020Article
- Population genetic screening efficiently identifies carriers of autosomal dominant diseases.Nature medicine · 2020Article
- The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.Frontiers in genetics · 2020Review
- Article
- A Genome-Wide Association Study Identifies the Genomic Region Associated with Shell Color in Yesso Scallop, Patinopecten yessoensis.Marine biotechnology (New York, N.Y.) · 2017Article
- Article
- Genetic testing of familial hypercholesterolemia in a real clinical setting.Wiener klinische Wochenschrift · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial Hypercholesterolemia (FH) is a common cause of premature cardiovascular disease and is often undiagnosed in young people. Although the disease is diagnosed clinically by high LDL cholesterol levels and family history, to date there are no single internationally accepted criteria for the diagnosis of FH. Several genes have been shown to be involved in FH; yet determining the implications of the different mutations on the phenotype remains a hard task. The polygenetic nature of FH is being enhanced by the discovery of new genes that serve as modifiers. Nevertheless, the picture is still unclear and many unknown genes contributing to the phenotype are most likely involved. Because of this evolving polygenetic nature, the diagnosis of FH by genetic testing is hampered by its cost and effectiveness.In this review, we reconsider the clinical versus genetic nomenclature of FH in the literature. After we describe each of the genetic causes of FH, we summarize the known correlation with phenotypic measures so far for each genetic defect. We then discuss studies from different populations on the genetic and clinical diagnoses of FH to draw helpful conclusions on cost-effectiveness and suggestions for diagnosis.
Identifiers
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Registered trials
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.