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Article

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

Atherosclerosis - 26 Jan 1996

Hoffer M J, Bredie S J, Boomsma D I, Reymer P W, Kastelein J J, de Knijff P, Demacker P N, Stalenhoef A F, Havekes L M, Frants R R

Abstract excerpt

Familial combined hyperlipidaemia (FCHL) is one of the major genetic causes of coronary heart disease (CHD) and is characterised by elevated levels of plasma cholesterol and/or triglycerides in individuals within a single family. Decreased lipoprotein lipase (LPL) activity has been found in some cases of FCHL. A recent study revealed a common mutation in the LPL gene, LPL(Asn291-->Ser), with a frequency of 9.3%...

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Source

Identifiers

PMID: 8808493
DOI: 10.1016/0021-9150(95)05641-6

Genes

LPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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The lipoprotein lipase (Asn291-->Ser) mutation is associated with elevated lipid levels in families with familial combined hyperlipidaemia.PMID 8808493Read ↗

Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia.Semantic proximity Read ↗

Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia.Semantic proximity Read ↗

Contribution of mutations in low density lipoprotein receptor (LDLR) and lipoprotein lipase (LPL) genes to familial combined hyperlipidemia (FCHL): a reappraisal by using a resequencing approach.Semantic proximity Read ↗

The V73M mutation in the hepatic lipase gene is associated with elevated cholesterol levels in four Dutch pedigrees with familial combined hyperlipidemia.Semantic proximity Read ↗

Common variants in the lipoprotein lipase gene, but not those in the insulin receptor substrate-1, the beta3-adrenergic receptor, and the intestinal fatty acid binding protein-2 genes, influence the lipid phenotypic expression in familial combined hyperlipidemia.Semantic proximity Read ↗

A Common Variant in the Gene for Lipoprotein Lipase (Asp9→Asn)Semantic proximity Read ↗

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