Open AccessA Common Mutation in the Lipoprotein Lipase Gene (N291S) Alters the Lipoprotein Phenotype and Risk for Cardiovascular Disease in Patients With Familial Hypercholesterolemia
Author(s) -
Marianne E. Wittekoek,
Simon N. Pimstone,
Paul W.A. Reymer,
Lisette Feuth,
Gert-Jan Botma,
Joep C. Defesche,
Martin H. Prins,
Michael R. Hayden,
John J.P. Kastelein
Publication year - 1998
Publication title -
circulation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.795
H-Index - 607
eISSN - 1524-4539
pISSN - 0009-7322
DOI - 10.1161/01.cir.97.8.729
Subject(s) - lipoprotein lipase , medicine , heterozygote advantage , familial hypercholesterolemia , endocrinology , mutation , odds ratio , cholesterol , genetics , allele , gene , biology , adipose tissue
Recently, a mutation in the lipoprotein lipase (LPL) gene (N291S) has been reported in 2% to 5% of individuals in western populations and is associated with increased triglyceride (TG) and reduced HDL cholesterol (HDLC) concentrations.
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