Journal of Lipid Research, Vol 31, 659-665, Copyright © 1990 by Lipid Research, Inc.
Hypervariability in a minisatellite 3' of the apolipoprotein B gene in patients with coronary heart disease compared with normal controls
W Friedl, EH Ludwig, B Paulweber, F Sandhofer and BJ McCarthy
Gladstone Foundation Laboratories for Cardiovascular Research, University of California, San Francisco 94140-0608.
Several recent reports have examined whether there is a correlation between
the presence of some minor alleles of the highly polymorphic apolipoprotein
B gene and atherosclerosis and premature heart disease. The present study
extends this investigation. A high-resolution method was used to study the
allele frequencies of a hypervariable minisatellite region close to the
apolipoprotein B gene in 110 patients with severe coronary disease and in
117 normal controls. Alleles containing 38, 44, 46, or 48 hypervariable
elements showed an association with coronary heart disease. These alleles
were also associated with elevated serum levels of total cholesterol and
apolipoprotein B among patients and with elevated serum levels of total
triglycerides among controls. The hypervariable region showed strong
linkage disequilibrium with a polymorphic EcoRI site in exon 29 and was in
linkage equilibrium with a polymorphic MspI site in exon 26. Two patients
carried a base change at codon 3500 that results in an
arginine-to-glutamine substitution; the base change was linked in both
instances to the allele with 48 hypervariable elements.