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 with both higher LPL activity and high density lipoprotein cholesterol (HDL-C) in patients with CHD. However, the impact...
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