Association of apolipoprotein B gene variants with plasma apoB and low density lipoprotein (LDL) cholesterol levels

The contribution of the variants of the apolipoprotein (apo) B locus to the total variance in plasma apoB and cholesterol levels was examined in four independent populations, two that were composed of normal controls (n = 77 and 85) and two with coronary heart disease (n = 115 and 159). A correlatio...

Full description

Saved in:
Bibliographic Details
Published in:Human genetics 1992-02, Vol.88 (4), p.463-470
Main Authors: DEEB, S. S, ALAN FAILOR, R, BROWN, B. G, BRUNZELL, J. D, ALBERS, J. J, MOTULSKY, A. G, WIJSMAN, E
Format: Article
Language:English
Subjects:
Adult
Alleles
Amino Acid Sequence
Apolipoproteins B - blood
Apolipoproteins B - genetics
Base Sequence
Biological and medical sciences
Cardiology. Vascular system
cholesterol
Cholesterol - blood
Cholesterol, LDL - blood
Coronary Disease - blood
Coronary Disease - genetics
Coronary heart disease
Female
Gene Frequency
genes
Genetic Linkage
Genetic Variation
Heart
Humans
lipoprotein (low density)
Male
Medical sciences
Molecular Sequence Data
Oligodeoxyribonucleotides
Polymerase Chain Reaction - methods
Polymorphism, Restriction Fragment Length
Reference Values
Restriction Mapping
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:The contribution of the variants of the apolipoprotein (apo) B locus to the total variance in plasma apoB and cholesterol levels was examined in four independent populations, two that were composed of normal controls (n = 77 and 85) and two with coronary heart disease (n = 115 and 159). A correlation between genotype at the apoB-XbaI locus and apoB levels was observed. The effects of the (+; presence of restriction site) and (-) alleles were to increase or decrease the apoB and cholesterol levels by approximately 3.5 mg/dl, respectively. None of the 274 individuals in the coronary heart disease (CHD) groups was found to be a carrier of the apoB allele Arg3500---Gln, previously shown to be associated with an apoB protein defective in binding to the low density lipoprotein receptor (LDL-R). No DNA sequence variants were found in the region encoding amino acid residues 3129-3532 within the putative LDL-R binding domain among 35 individuals with apoB levels above the 94th percentile (141 mg/dl).
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00215683