A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis.

doi:10.1038/ng0595-28

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Article

A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis.

Nature genetics - 1 May 1995

Reymer P W, Gagné E, Groenemeyer B E, Zhang H, Forsyth I, Jansen H, Seidell J C, Kromhout D, Lie K E, Kastelein J

Abstract excerpt

A reduction of high density lipoprotein cholesterol (HDC) is recognized as an important risk factor for coronary artery disease (CAD). We now show in approximately 1 in 20 males with proven atherosclerosis that an Asn291Ser mutation in the human lipoprotein lipase (LPL) gene is associated with significantly reduced HDL levels (P = 0.001) and results in a significant decrease in LPL catalytic activity (P <...

Topics

Adult
Aged
Alleles
Animals
Arteriosclerosis
Base Sequence
Cell Line
Cholesterol
Cholesterol, HDL
Coronary Disease
Gene Frequency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Lipoprotein Lipase

Lipoproteins, LDL

Male

Middle Aged

Molecular Sequence Data

Mutagenesis, Site-Directed

Source

Open in PubMed

Identifiers

PMID: 7647785
DOI: 10.1038/ng0595-28

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7647785-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis.PMID 7647785Read ↗

A common mutation in the lipoprotein lipase gene (N291S) alters the lipoprotein phenotype and risk for cardiovascular disease in patients with familial hypercholesterolemia.Semantic proximity Read ↗

A common substitution (Asn291Ser) in lipoprotein lipase is associated with increased risk of ischemic heart disease.Semantic proximity Read ↗

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Identification of genetic variants in endothelial lipase in persons with elevated high-density lipoprotein cholesterol.Semantic proximity Read ↗

The lipoprotein lipase (Asn291-->Ser) mutation is associated with elevated lipid levels in families with familial combined hyperlipidaemia.Semantic proximity Read ↗

Genetic and structure-function studies of missense mutations in human endothelial lipase.Semantic proximity Read ↗

Lipoprotein lipase D9N, N291S and S447X polymorphisms: their influence on premature coronary heart disease and plasma lipids.Semantic proximity Read ↗

Lipoprotein lipase variants D9N and N291S are associated with increased plasma triglyceride and lower high-density lipoprotein cholesterol concentrations: studies in the fasting and postprandial states: the European Atherosclerosis Research Studies.Semantic proximity Read ↗

A frequent mutation in the lipoprotein lipase gene (D9N) deteriorates the biochemical and clinical phenotype of familial hypercholesterolemia.Semantic proximity Read ↗

Two common mutations (D9N, N291S) in lipoprotein lipase: a cumulative analysis of their influence on plasma lipids and lipoproteins in men and women.Semantic proximity Read ↗

Common mutations of the lipoprotein lipase gene and their clinical significance.Semantic proximity Read ↗

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