ArticleThe Journal of clinical investigation1990
Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation.
Article in The Journal of clinical investigation, 1990. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00005139 (Characterization Of Coronary Prone Pedigrees), which is not on this map. Cited by 25 papers.
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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.
Characterization Of Coronary Prone Pedigrees
Who cites it
25 citing papers in PubMed.
- Distinct genetic architecture of coronary heart disease in dyslipidemia patients.BMC medical genomics · 2026Article
- What is the phenotype of heterozygous lipoprotein lipase deficiency?Current opinion in lipidology · 2025Review
- Lipoprotein lipase deficiency: heterozygotes match homozygotes in severity.Archives of medical science : AMS · 2025Article
- Maternal High Fat Diet and its Expressions in the Heart and Liver in the Mice Embryogenesis.Current molecular medicine · 2024Article
- Metabolism of triglyceride-rich lipoproteins in health and dyslipidaemia.Nature reviews. Cardiology · 2022Review
- Low circulating PCSK9 levels inFrontiers in genetics · 2022Article
- An upstream enhancer regulatesJournal of lipid research · 2019Article
- Atherogenesis and metabolic dysregulation in LDL receptor-knockout rats.JCI insight · 2017Article
- Lipid and lipoprotein abnormalities in acute lymphoblastic leukemia survivors.Journal of lipid research · 2017Article
- The pathophysiology of intestinal lipoprotein production.Frontiers in physiology · 2015Review
- Evaluation of seven common lipid associated loci in a large Indian sib pair study.Lipids in health and disease · 2012Article
- Lipoprotein lipase as a candidate target for cancer prevention/therapy.Biochemistry research international · 2012Article
- Triglyceride response following an oral fat tolerance test in Burmese cats, other pedigree cats and domestic crossbred cats.Journal of feline medicine and surgery · 2009Article
- Lipoprotein lipase and its role in regulation of plasma lipoproteins and cardiac risk.Current atherosclerosis reports · 2004Review
- Linkage of low-density lipoprotein size to the lipoprotein lipase gene in heterozygous lipoprotein lipase deficiency.American journal of human genetics · 1999Article
- Recessive inheritance of obesity in familial non-insulin-dependent diabetes mellitus, and lack of linkage to nine candidate genes.American journal of human genetics · 1997Article
- Quantitative trait locus mapping of human blood pressure to a genetic region at or near the lipoprotein lipase gene locus on chromosome 8p22.The Journal of clinical investigation · 1996Article
- Severe hypertriglyceridemia, reduced high density lipoprotein, and neonatal death in lipoprotein lipase knockout mice. Mild hypertriglyceridemia with impaired very low density lipoprotein clearance in heterozygotes.The Journal of clinical investigation · 1995Article
- A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity.Proceedings of the National Academy of Sciences of the United States of America · 1995Article
- An apolipoprotein CIII marker associated with hypertriglyceridemia in Caucasians also confers increased risk in a west Japanese population.Human genetics · 1995Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
Familial lipoprotein lipase (LPL) deficiency is a rare genetic disorder accompanied by well-characterized manifestations. The phenotypic expression of heterozygous LPL deficiency has not been so clearly defined. We studied the pedigree of a proband known to be homozygous for a mutation resulting in nonfunctional LPL. Hybridization of DNA from 126 members with allele-specific probes detected 29 carriers of the mutant allele. Adipose tissue LPL activity, measured previously, was reduced by 50% in carriers, but did not reliably distinguish them from noncarriers. Carriers were prone to the expression of a form of familial hypertriglyceridemia characterized by increased plasma triglyceride, VLDL cholesterol and apolipoprotein B, and decreased LDL and HDL cholesterol concentrations. These manifestations were age modulated, with conspicuous differences between carriers and noncarriers observed only after age 40. Several noncarriers exhibited similar lipid abnormalities, but without the inverse relationship between VLDL cholesterol and LDL cholesterol noted among carriers. In addition to age and carrier status, the potentially reversible conditions, obesity, hyperinsulinemia and lipid-raising drug use were contributory. Thus heterozygous lipoprotein lipase deficiency, together with age-related influences, may account for a form of familial hypertriglyceridemia.
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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.