ArticleThe Clinical biochemist. Reviews2008
Common and rare gene variants affecting plasma LDL cholesterol.
Article in The Clinical biochemist. Reviews, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 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
26 citing papers in PubMed, 53 citations in OpenAlex.
- Protective lipid-lowering variants in healthy older individuals without coronary heart disease.Open heart · 2021Trial
- Common and rare single nucleotide polymorphisms in the LDLR gene are present in a black South African population and associate with low-density lipoprotein cholesterol levels.Journal of human genetics · 2014Trial
- Apolipoprotein B in cardiovascular risk assessment: beyond traditional lipid markers.Frontiers in cardiovascular medicine · 2026Review
- Comprehensive gene heritability estimation reveals the genetic architecture of rare coding variants underlying complex traits.bioRxiv : the preprint server for biology · 2025Article
- Article
- Lipoprotein lipase deficiency: heterozygotes match homozygotes in severity.Archives of medical science : AMS · 2025Article
- Screening of PCSK9 and LDLR genetic variants in Familial Hypercholesterolemia (FH) patients in India.Journal of human genetics · 2021Article
- Apolipoprotein B gene mutation related to familial hypercholesterolemia in an Iranian population: With or without hypothyroidism.Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2021Article
- Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease.Circulation. Genomic and precision medicine · 2019Article
- Genome analysis of Yucatan miniature pigs to assess their potential as biomedical model animals.Asian-Australasian journal of animal sciences · 2019Article
- The Roles of Low-Density Lipoprotein Receptor-Related Proteins 5, 6, and 8 in Cancer: A Review.Journal of oncology · 2019Review
- Multiple rare and common variants in APOB gene locus associated with oxidatively modified low-density lipoprotein levels.PloS one · 2019Article
- Rare non-coding variants are associated with plasma lipid traits in a founder population.Scientific reports · 2017Article
- The effects of rosuvastatin on lipid-lowering, inflammatory, antioxidant and fibrinolytics blood biomarkers are influenced by Val16Ala superoxide dismutase manganese-dependent gene polymorphism.The pharmacogenomics journal · 2016Review
- Laboratory Medicine in the Clinical Decision Support for Treatment of Hypercholesterolemia: Pharmacogenetics of Statins.Clinics in laboratory medicine · 2016Review
- Efficacy of ezetimibe is not related to NPC1L1 gene polymorphisms in a pilot study of Chilean hypercholesterolemic subjects.Molecular diagnosis & therapy · 2015Article
- Genetics and personalized medicine--a role in statin therapy?Current atherosclerosis reports · 2014Review
- A novel pathogenic variant of the LDLR gene in the Asian population and its clinical correlation with familial hypercholesterolemia.Molecular biology reports · 2012Article
- The complex genetic basis of plasma triglycerides.Current atherosclerosis reports · 2012Review
- Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitis.Case reports in gastroenterology · 2012Article
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
The plasma level of LDL cholesterol is clinically important and genetically complex. LDL cholesterol levels are in large part determined by the activity of LDL receptors (LDLR) in the liver. Autosomal dominant familial hypercholesterolaemia (FH) - with its high LDL cholesterol levels, xanthomas, and premature atherosclerosis - is caused by mutations in either the LDLR or in APOB - the protein in LDL recognised by the LDLR. A third, rare form - autosomal recessive hypercholesterolaemia - arises from mutations in the gene encoding an adaptor protein involved in the internalisation of the LDLR. A fourth variant of inherited hypercholesterolaemia was recently found to be associated with missense mutations in PCSK9, which encodes a serine protease that degrades LDLR. Whereas the gain-of-function mutations in PCSK9 are rare, a spectrum of more frequent loss-of-function mutations in PCSK9 associated with low LDL cholesterol levels has been identified in selected populations and could protect against coronary heart disease. Heterozygous familial hypobetalipoproteinaemia (FHBL) - with its low LDL cholesterol levels and resistance to atherosclerosis - is caused by mutations in APOB. In contrast to other inherited forms of severe hypocholesterolaemia such as abetalipoproteinaemia - caused by mutations in MTP - and homozygous FHBL, a deficiency of PCSK9 appears to be benign. Rare variants of NPC1L1, the gene encoding the putative intestinal cholesterol receptor, have shown more modest effects on plasma LDL cholesterol than PCSK9 variants, similar in magnitude to the effect of common APOE variants. Taken together, these findings indicate that heritable variation in plasma LDL cholesterol is conferred by sequence variation in various loci, with a small number of common and multiple rare gene variants contributing to the phenotype.
Identifiers
18566665PMC2423314W1538707925What 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.