ReviewNature reviews. Endocrinology2012
The genetics of familial combined hyperlipidaemia.
Review in Nature reviews. Endocrinology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 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
31 citing papers in PubMed, 107 citations in OpenAlex.
- Dietary supplementation with Acer truncatum seed modulates lipid profiles and enriches unsaturated fatty acids in egg yolk of laying hens.Poultry science · 2026Article
- Targeting Triglycerides in Cardiovascular Disease Prevention: Evidence, Mechanisms, and Emerging Therapies.Current cardiology reports · 2026Review
- Significant Association Between Glucokinase Regulatory Protein Variants and Genetic and Metabolic Diseases.Current issues in molecular biology · 2025Review
- Steatotic liver disease interacts with a polygenic risk score for triglyceride clearance to impact the risk of hypertriglyceridaemia: The Maastricht Study.Diabetologia · 2025Article
- A Case of Diabetes With a Rare Variant of Familial Combined Hyperlipidemia With an Atypical Phenotype.Cureus · 2025Article
- Familial Combined Hyperlipidemia: Myth or Reality?Current atherosclerosis reports · 2025Review
- The impact of overweight on lipid phenotype in different forms of dyslipidemia: a retrospective cohort study.Journal of endocrinological investigation · 2024Article
- Beyond the Guidelines: Perspectives on Management of Pediatric Patients with Hypertriglyceridemia.Current atherosclerosis reports · 2024Review
- Interaction Between Primary Hyperlipidemias and Type 2 Diabetes: Therapeutic Implications.Diabetes therapy : research, treatment and education of diabetes and related disorders · 2024Review
- Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.Molecular genetics and metabolism reports · 2024Article
- Executive summary of the Hellenic Atherosclerosis Society guidelines for the diagnosis and treatment of dyslipidemias - 2023.Atherosclerosis plus · 2024Review
- Sequence Analysis of Six Candidate Genes in Miniature Schnauzers with Primary Hypertriglyceridemia.Genes · 2024Article
- Visceral adipose tissue phenotype and hypoadiponectinemia are associated with aortic Fluorine-18 fluorodeoxyglucose uptake in patients with familial dyslipidemias.Journal of nuclear cardiology : official publication of the American Society of Nuclear Cardiology · 2022Article
- Article
- Genetics of Familial Combined Hyperlipidemia (FCHL) Disorder: An Update.Biochemical genetics · 2022Review
- Genetics of Familial Combined Hyperlipidemia (FCHL) Disorder: An Update.Biochemical genetics · 2022Review
- Effects ofFrontiers in cardiovascular medicine · 2022Article
- Case Studies in Pediatric Lipid Disorders and Their Management.The Journal of clinical endocrinology and metabolism · 2021Article
- Review
- ANGPTL3 gene variants in subjects with familial combined hyperlipidemia.Scientific reports · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Almost 40 years after the first description of familial combined hyperlipidaemia (FCHL) as a discrete entity, the genetic and metabolic basis of this prevalent disease has yet to be fully unveiled. In general, two strategies have been applied to elucidate its complex genetic background, the candidate-gene and the linkage approach, which have yielded an extensive list of genes associated with FCHL or its related traits, with a variable degree of scientific evidence. Some genes influence the FCHL phenotype in many pedigrees, whereas others are responsible for the affected state in only one kindred, thereby adding to the genetic and phenotypic heterogeneity of FCHL. This Review outlines the individual genes that have been described in FCHL and how these genes can be incorporated into the current concept of metabolic pathways resulting in FCHL: adipose tissue dysfunction, hepatic fat accumulation and overproduction, disturbed metabolism and delayed clearance of apolipoprotein-B-containing particles. Genes that affect metabolism and clearance of plasma lipoprotein particles have been most thoroughly studied. The adoption of new traits, in addition to the classic plasma lipid traits, could aid in the identification of new genes implicated in other pathways in FCHL. Moreover, systems genetic analysis, which integrates genetic polymorphisms with data on gene expression levels, lipidomics or metabolomics, will attribute functions to genetic variants in addition to revealing new genes.
Indexed as
Identifiers
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.