ReviewCurrent cardiology reports2017
Genetic Architecture of Familial Hypercholesterolaemia.
Review in Current cardiology reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 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.
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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
59 citing papers in PubMed, 121 citations in OpenAlex.
- Nutraceutical approach for the management of cardiovascular risk - a combination containing the probiotic Bifidobacterium longum BB536 and red yeast rice extract: results from a randomized, double-blind, placebo-controlled study.Nutrition journal · 2019 · on this mapTrial
- Premature coronary artery disease in women: sex-specific risk factors, pathogenetic mechanisms and clinical implications.Annals of medicine · 2026Review
- Review
- A Genome-First Study of Familial Hypercholesterolemia Comparing African and European Ancestry Individuals.Circulation · 2026Article
- Simultaneous Assessment of Genetic and Epigenetic Contributions to the Plasma Lipid Levels with Respect to Cardiovascular Risk.Journal of atherosclerosis and thrombosis · 2026Article
- Non-Responder to Inclisiran and Evolocumab-A Female Patient with Heterozygous Familial Hypercholesterolemia and Statin Intolerance.Diseases (Basel, Switzerland) · 2026Article
- Article
- Association of APOB (rs515135) and PCSK9 (rs505151) gene polymorphisms with CAD in the Indian population.Biomarkers in medicine · 2025Article
- A Comprehensive Review of the Genetics of Dyslipidemias and Risk of Atherosclerotic Cardiovascular Disease.Nutrients · 2025Review
- 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
- CRISPR-Cas9-mediated homology-directed repair for precise gene editing.Molecular therapy. Nucleic acids · 2024Review
- Assessment of ability of AlphaMissense to identify variants affecting susceptibility to common disease.European journal of human genetics : EJHG · 2024Article
- The Importance of Genetic Testing for Familial Hypercholesterolemia: A Pediatric Pilot Study.Medicina (Kaunas, Lithuania) · 2024Article
- Article
- Liver transplantation for co-existing biliary atresia and familial hypercholesterolemia.Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2024Article
- What Causes Premature Coronary Artery Disease?Current atherosclerosis reports · 2024Review
- Identification of a novel LDLR p.Glu179Met variant in Thai families with familial hypercholesterolemia and response to treatment with PCSK9 inhibitor.Scientific reports · 2024Article
- Analysis of low-density lipoprotein receptor gene mutations in a family with familial hypercholesterolemia.PloS one · 2024Article
- Review
- Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors.Genes · 2023Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
purpose of reviewFamilial hypercholesterolaemia (FH) is an inherited disorder of low-density lipoprotein cholesterol (LDL-C) which is characterised by a raised cholesterol level from birth and a high risk of premature coronary heart disease. In this paper, we review the genetic basis of FH and its impact on the clinical presentation. RECENT
findingsMutations in any of three genes (LDLR, APOB and PCSK9) are known to cause autosomal dominant FH, but a mutation can be found in only ∼40% of patients with a clinical diagnosis of FH. In the remainder, a polygenic aetiology is most likely, due to the co-inheritance of common LDL-C-raising variants. The cardiovascular presentation and management of FH will differ between patients based on their underlying genetic factors. New genotyping methods such as next-generation sequencing will provide us with better understanding of the genetic architecture of FH.
Indexed as
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What OpenQuestion holds
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.