ArticleThe Journal of clinical investigation2000
Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes.
Article in The Journal of clinical investigation, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers, 1 of them a synthesis that pooled it.
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Who cites it
78 citing papers in PubMed, 1 synthesis or guideline pooled it, 318 citations in OpenAlex.
- Lipoprotein Lipase (LPL) Polymorphism and the Risk of Coronary Artery Disease: A Meta-Analysis.International journal of environmental research and public health · 2017Pooled it
- Statins influence the relationship between ATP-binding cassette A1 membrane transporter-mediated cholesterol efflux capacity and coronary atherosclerosis in rheumatoid arthritis.Journal of translational autoimmunity · 2023Article
- Hepatocyte ABCA1 deficiency is associated with reduced HDL sphingolipids.Frontiers in physiology · 2023Article
- Mechanism Analysis of Metabolic Fatty Liver on Largemouth Bass (Metabolites · 2022Article
- Genomic Variants and Multilevel Regulation ofJournal of cardiovascular development and disease · 2021Review
- The Role of the ATP-Binding Cassette A1 (ABCA1) in Human Disease.International journal of molecular sciences · 2021Review
- Repurposed drugs and nutraceuticals targeting envelope protein: A possible therapeutic strategy against COVID-19.Genomics · 2021Article
- Microbial lipases and their industrial applications: a comprehensive review.Microbial cell factories · 2020Review
- The interaction between ABCA1 polymorphism and physical activity on the HDL-cholesterol levels in a Japanese population.Journal of lipid research · 2020Article
- ATP-binding cassette sub-family a member1 gene mutation improves lipid metabolic abnormalities in diabetes mellitus.Lipids in health and disease · 2019Article
- Activation of stem cell up-regulation/mobilization: a cardiovascular risk in both mice and humans with implications for liver disease, psoriasis and SLE.Vascular health and risk management · 2019Review
- Article
- Primary genetic disorders affecting high density lipoprotein (HDL).Drugs in context · 2018Review
- ATP-Binding Cassette Transporter A1 Deficiency in Human Induced Pluripotent Stem Cell-Derived Hepatocytes Abrogates HDL Biogenesis and Enhances Triglyceride Secretion.EBioMedicine · 2017Article
- HDL as a Causal Factor in Atherosclerosis: Insights from Human Genetics.Current atherosclerosis reports · 2016Review
- Both STAT3 activation and cholesterol efflux contribute to the anti-inflammatory effect of apoA-I/ABCA1 interaction in macrophages.Journal of lipid research · 2016Article
- Deficiency in the Lipid Exporter ABCA1 Impairs Retrograde Sterol Movement and Disrupts Sterol Sensing at the Endoplasmic Reticulum.The Journal of biological chemistry · 2015Article
- ABCA1 mRNA expression and cholesterol outflow in U937 cells.International journal of clinical and experimental pathology · 2015Article
- Article
- Stroke-Risk Factors Differ between Rural and Urban Communities: Population Survey in Central Uganda.Neuroepidemiology · 2015Article
18 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
20 authors at 9 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We and others have recently identified mutations in the ABCA1 gene as the underlying cause of Tangier disease (TD) and of a dominantly inherited form of familial hypoalphalipoproteinemia (FHA) associated with reduced cholesterol efflux. We have now identified 13 ABCA1 mutations in 11 families (five TD, six FHA) and have examined the phenotypes of 77 individuals heterozygous for mutations in the ABCA1 gene. ABCA1 heterozygotes have decreased HDL cholesterol (HDL-C) and increased triglycerides. Age is an important modifier of the phenotype in heterozygotes, with a higher proportion of heterozygotes aged 30-70 years having HDL-C greater than the fifth percentile for age and sex compared with carriers less than 30 years of age. Levels of cholesterol efflux are highly correlated with HDL-C levels, accounting for 82% of its variation. Each 8% change in ABCA1-mediated efflux is predicted to be associated with a 0.1 mmol/l change in HDL-C. ABCA1 heterozygotes display a greater than threefold increase in the frequency of coronary artery disease (CAD), with earlier onset than unaffected family members. CAD is more frequent in those heterozygotes with lower cholesterol efflux values. These data provide direct evidence that impairment of cholesterol efflux and consequently reverse cholesterol transport is associated with reduced plasma HDL-C levels and increased risk of CAD.
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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.