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

✍ Scribed by Samir S. Deeb; R. Alan Failor; B. Greg Brown; John D. Brunzell; John J. Albers; Arno G. Motulsky; Ellen Wijsman

Publisher: Springer
Year: 1992
Tongue: English
Weight: 923 KB
Volume: 88
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00215683

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✦ Synopsis

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).

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