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 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).
Deeb
S S
SS
Department of Medicine, University of Washington, Seattle 98195.
Failor
R A
RA
Brown
B G
BG
Brunzell
J D
JD
Albers
J J
JJ
Motulsky
A G
AG
Wijsman
E
E
D000328:Adult; D000483:Alleles; D000595:Amino Acid Sequence; D001055:Apolipoproteins B / Q000097:blood* / Q000235:genetics*; D001483:Base Sequence; D002784:Cholesterol / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood*; D003327:Coronary Disease / Q000097:blood* / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D012016:Reference Values; D015183:Restriction Mapping
D001055:Apolipoproteins B; D008078:Cholesterol, LDL; D009838:Oligodeoxyribonucleotides; D002784:Cholesterol