Association of Mutations in the Apolipoprotein B Gene with Hypercholesterolemia and the Risk of Ischemic Heart Disease
New England Journal of MedicinePublished 28 May 1998
Anne Tybjærg‐Hansen, Rolf Steffensen, Hans Meinertz, Peter Schnohr, Børge G. Nordestgaard
Citations192
SJR quartileQ1
SJR score19.08
SNIP13.47
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TL;DR
The Arg3500Gln mutation in the apolipoprotein B gene, which is present in approximately 1 in 1000 persons in Denmark, causes severe hypercholesterolemia and increases the risk of ischemic heart disease.
Abstract
The Arg3500Gln mutation in the apolipoprotein B gene, which is responsible for familial defective apolipoprotein B-100 and is present in approximately 1 in 1000 persons in Denmark, causes severe hypercholesterolemia and increases the risk of ischemic heart disease.
Keywords
MedicineBiochemistry, Genetics and Molecular Biology
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It appears that the mutation in the codon for amino acid 3500 (CGG----CAG), a CG mutational "hot spot," defines a minor apoB-100 allele associated with defective low density lipoproteins and hypercholesterolemia.
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These studies indicate that the defective receptor binding results in inefficient clearance of LDL and the hypercholesterolemia observed in patients, which has been designated familial defective apolipoprotein B-100.
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