ArticleThe Journal of clinical investigation1988
Inference of a molecular defect of apolipoprotein B in hypobetalipoproteinemia by linkage analysis in a large kindred.
Article in The Journal of clinical investigation, 1988. 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 10 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.
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.
Characterization Of Coronary Prone Pedigrees
Who cites it
10 citing papers in PubMed, 46 citations in OpenAlex.
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- Article
- Gene-environment interactions in atherosclerosis.Molecular and cellular biochemistry · 1992Review
- Apolipoprotein genes and atherosclerosis.The Clinical investigator · 1992Review
- The polymorphism ApoB/4311 in patients with myocardial infarction and controls: the ECTIM Study.Human genetics · 1992Article
- Anderson's disease: genetic exclusion of the apolipoprotein-B gene in two families.The Journal of clinical investigation · 1991Article
- Sample-size guidelines for linkage analysis of a dominant locus for a quantitative trait by the method of lod scores.American journal of human genetics · 1990Article
- Exclusion of linkage between the human apolipoprotein B gene and abetalipoproteinemia.American journal of human genetics · 1990Article
- Familial hypobetalipoproteinemia caused by a mutation in the apolipoprotein B gene that results in a truncated species of apolipoprotein B (B-31). A unique mutation that helps to define the portion of the apolipoprotein B molecule required for the formation of buoyant, triglyceride-rich lipoproteins.The Journal of clinical investigation · 1990Article
- Genetic basis of lipoprotein disorders.The Journal of clinical investigation · 1989Review
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
Heterozygous hypobetalipoproteinemia is characterized by reduced plasma concentrations of LDL cholesterol, total triglycerides, and apo B to less than 50% of normal values. The molecular basis of this disorder remains unknown. The phenotype cosegregates with a DNA haplotype of the apo B gene in an Idaho pedigree, with a maximum decimal logarithm of the ratio (LOD) score of 7.56 at a recombination rate of zero. Individuals carrying this haplotype had total cholesterol levels of 96 mg/dl, LDL cholesterol levels of 37 mg/dl, triglycerides levels of 51 mg/dl, and apo B levels of 38 mg/dl. This study strongly suggests that apo B mutations underlie hypobetalipoproteinemia, and demonstrates the power of the candidate gene approach in linkage analysis for unraveling genetic determinants in metabolic disorders of undefined etiology.
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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 Socratic graph.