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Article

A common truncation variant of lipoprotein lipase (Ser447X) confers protection against coronary heart disease: the Framingham Offspring Study.

Clinical genetics - 1 Jun 1999

Gagné S E, Larson M G, Pimstone S N, Schaefer E J, Kastelein J J, Wilson P W, Ordovas J M, Hayden M R

Abstract excerpt

Genetic variation at the lipoprotein lipase (LPL) locus has been shown to influence plasma lipids and to modulate risk of coronary heart disease (CHD). Recently, we found that the most frequent variant at this locus, involving a C-terminal truncation of two amino acids (Ser447X), was associated w...

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Source

Identifiers

PMID: 10450862
DOI: 10.1034/j.1399-0004.1999.550609.x

Genes

LPL
FOS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10450862-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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A common truncation variant of lipoprotein lipase (Ser447X) confers protection against coronary heart disease: the Framingham Offspring Study.PMID 10450862Read ↗

S447X variant of the lipoprotein lipase gene, lipids, and risk of coronary heart disease in 3 prospective cohort studies.Semantic proximity Read ↗

The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides, and reduced risk of coronary artery disease.Semantic proximity Read ↗

The lipoprotein lipase gene serine 447 stop variant influences hypertension-induced left ventricular hypertrophy and risk of coronary heart disease.Semantic proximity Read ↗

Effect of gender on phenotypic expression of the S447X mutation in LPL: the Copenhagen City Heart Study.Semantic proximity Read ↗

The S447X variant of lipoprotein lipase gene is inversely associated with severity of coronary artery disease.Semantic proximity Read ↗

Association of the C-514T polymorphism in the hepatic lipase gene with variations in lipoprotein subclass profiles: The Framingham Offspring Study.Semantic proximity Read ↗

Lipoprotein lipase S447X: a naturally occurring gain-of-function mutation.Semantic proximity Read ↗

The S447X polymorphism of lipoprotein lipase: effect on the incidence of premature coronary disease and on plasma lipids.Semantic proximity Read ↗

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Association between lipoprotein lipase (LPL) gene and blood lipids: a common variant for a common trait?Semantic proximity Read ↗

Influence of lipoprotein lipase serine 447 stop polymorphism on tracking of triglycerides and HDL cholesterol from childhood to adulthood and familial risk of coronary artery disease: the Bogalusa heart study.Semantic proximity Read ↗

Single-nucleotide polymorphisms in the lipoprotein lipase gene associated with coronary heart disease in Chinese.Semantic proximity Read ↗

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