ReviewJournal of internal medicine2023
Genetic and molecular architecture of familial hypercholesterolemia.
Review in Journal of internal medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers, 2 of them syntheses that pooled it.
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
67 citing papers in PubMed, 2 syntheses or guidelines pooled it, 131 citations in OpenAlex.
- Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals.Genome biology · 2025Pooled it
- Prevalence of Familial Hypercholesterolemia in Pakistan: A Pooled Analysis of 1.5 Million Individuals and Comparison with Other Countries of the Region.Global heart · 2025Pooled it
- Experimental pasta as an innovative approach to cholesterol reduction in patients with metabolic syndrome, with and without major psychiatric disorders: A randomized controlled trial supported byEuropean psychiatry : the journal of the Association of European Psychiatrists · 2025Trial
- How the genetic diagnosis of familial hypercholesterolemia can be guided by clinical features. Preliminary evidences from an Italian single-center experience.Acta diabetologica · 2026Article
- The Spectrum of Genetic Causes of Familial Hypercholesterolemia Phenotype.Current atherosclerosis reports · 2026Review
- Review
- Directed evolution of compact RNA-guided nucleases for enhanced activity in mammalian cells.Genome biology · 2026Article
- Review
- Review
- Genetic and lifestyle determinants of lipid profiles in Japanese young adults: evidence from MBOAT7 rs641738.Lipids in health and disease · 2026Article
- RNA-Based Therapies for Inherited Metabolic Disorders.Journal of inherited metabolic disease · 2026Review
- Atherogenic Dyslipidemia in Children and Adolescents: Current Evidence, Clinical Challenges, and Future Perspectives.Journal of cardiovascular development and disease · 2026Review
- Population Admixture andJournal of cardiovascular development and disease · 2026Article
- "What impact does having a diagnosis of an inherited cardiac condition have on children and young people's physical activity and quality of life?" A scoping review.European journal of pediatrics · 2026Article
- Positive Predictive Values of Familial Hypercholesterolemia Diagnoses in the Danish National Patient Registry and the Danish Familial Hypercholesterolemia Registry - A Validation Study.Clinical epidemiology · 2026Article
- Functional analysis from ex-vivo characterization of LDLR exon 13-15 duplication associated to familial hypercholesterolemia.Frontiers in endocrinology · 2026Article
- First LDLRAP1 and Recurrent LDLR Mutations in Tunisian Families With Familial Hypercholesterolemia.Journal of cellular and molecular medicine · 2026Article
- Pathogenicity analysis and functional prediction of a rare LDLR variant in familial hypercholesterolemia combined with Wilson disease.Genes & genomics · 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
- Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Alzheimer's Disease: Recent Advances and Controversies.Molecular neurobiology · 2025Review
7 more citing papers are in PubMed but not listed here.
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 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Atherosclerotic cardiovascular disease is the leading cause of death globally. Despite its important risk of premature atherosclerosis and cardiovascular disease, familial hypercholesterolemia (FH) is still largely underdiagnosed worldwide. It is one of the most frequently inherited diseases due to mutations, for autosomal dominant forms, in either of the LDLR, APOB, and PCSK9 genes or possibly a few mutations in the APOE gene and, for the rare autosomal forms, in the LDLRAP1 gene. The discovery of the genes implicated in the disease has largely helped to improve the diagnosis and treatment of FH from the LDLR by Brown and Goldstein, as well as the introduction of statins, to PCSK9 discovery in FH by Abifadel et al., and the very rapid availability of PCSK9 inhibitors. In the last two decades, major progress has been made in clinical and genetic diagnostic tools and the therapeutic arsenal against FH. Improving prevention, diagnosis, and treatment and making them more accessible to all patients will help reduce the lifelong burden of the disease.
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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 Socratic graph.