ArticleProceedings of the National Academy of Sciences of the United States of America1995
A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT00005313 (Human Lipoprotein Pathophysiology - Subproject), which is not on this map. Cited by 16 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.
Human Lipoprotein Pathophysiology - Subproject: Genetics of Familial Combined Hyperlipidemia
Who cites it
16 citing papers in PubMed, 109 citations in OpenAlex.
- Microplastic and nanoplastic exposure and risk of diabetes mellitus.World journal of clinical cases · 2025Article
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- A Set of Proximal Regulatory Elements Contribute to the Transcriptional Activity of the Human Lipoprotein Lipase Promoter.Current issues in molecular biology · 2024Article
- ANGPTL3 gene variants in subjects with familial combined hyperlipidemia.Scientific reports · 2021Article
- Article
- Functional analysis of four LDLR 5'UTR and promoter variants in patients with familial hypercholesterolaemia.European journal of human genetics : EJHG · 2015Article
- The genetics of familial combined hyperlipidaemia.Nature reviews. Endocrinology · 2012Review
- Lipoprotein lipase S447X variant associated with VLDL, LDL and HDL diameter clustering in the MetS.Lipids in health and disease · 2011Article
- Variable effects of maternal and paternal-fetal contribution to the risk for preeclampsia combining GSTP1, eNOS, and LPL gene polymorphisms.The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians · 2011Article
- Genome scan for quantitative trait loci influencing HDL levels: evidence for multilocus inheritance in familial combined hyperlipidemia.Human genetics · 2005Article
- Evidence of linkage of HDL level variation to APOC3 in two samples with different ascertainment.Human genetics · 2003Article
- A multilocus genotyping assay for candidate markers of cardiovascular disease risk.Genome research · 1999Article
- Genomewide scan for familial combined hyperlipidemia genes in finnish families, suggesting multiple susceptibility loci influencing triglyceride, cholesterol, and apolipoprotein B levels.American journal of human genetics · 1999Article
- Structure and function of the human Werner syndrome gene promoter: evidence for transcriptional modulation.Nucleic acids research · 1998Article
- Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase.American journal of human genetics · 1998Article
- Intestinal transcription and synthesis of apolipoprotein AI is regulated by five natural polymorphisms upstream of the apolipoprotein CIII gene.The Journal of clinical investigation · 1997Article
Corrections and comments
- Erratum issued
Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
We have identified a naturally occurring mutation in the promoter of the lipoprotein lipase (LPL) gene. One of 20 patients with familial combined hyperlipidemia (FCHL) and reduced levels of postheparin plasma LPL activity was found to be a heterozygote carrier of this mutation. The mutation, a T-->C substitution at nt -39, occurred in the binding site of the transcription factor Oct-1. As a result, the transcriptional activity of the mutant promoter was < 15% of wild type, as determined by transfection studies in the human macrophage-like cell line THP-1. This decrease in promoter activity was observed in undifferentiated as well as in phorbol ester-differentiated THP-1 cells. Furthermore, the inductive effect of elevating the levels of intracellular cAMP was equally reduced. This mutation was not present among 20 FCHL patients with normal plasma LPL levels nor has it been reported among individuals with familial LPL deficiency. Thus, heterozygosity for LPL promoter mutations may be one of several factors that contribute to the etiology of FCHL.
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