Polymorphisms in the apolipoprotein B-100 gene contributes to normal variation in plasma lipids in 464 Danish men born in 1948

We have studied the possible association of 5 polymorphisms in the apoB gene [a 9-bp insertion/deletion length polymorphism in the signal peptide coding region, XbaI, MspI, and EcoRI restriction fragment length polymorphisms (RFLPs) and a 15-bp variable number of tandem repeats (VNTR) region 3'...

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Bibliographic Details
Published in:Human genetics 1993-03, Vol.91 (1), p.45-50
Main Authors: HANSEN, P. S, GERDES, L. U, KLAUSEN, I. C, GREGERSEN, N, FAERGEMAN, O
Format: Article
Language:English
Subjects:
Alleles
Apolipoprotein B-100
Apolipoproteins B - genetics
Base Sequence
Biological and medical sciences
Denmark - ethnology
Fundamental and applied biological sciences. Psychology
genes
Genetics of eukaryotes. Biological and molecular evolution
Human
Humans
lipids
Male
man
Middle Aged
Molecular Sequence Data
Myocardial Ischemia - genetics
Phenotype
Polymorphism, Genetic - genetics
Polymorphism, Restriction Fragment Length
Population genetics, reproduction patterns
restriction fragment length polymorphism
variation
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Summary:We have studied the possible association of 5 polymorphisms in the apoB gene [a 9-bp insertion/deletion length polymorphism in the signal peptide coding region, XbaI, MspI, and EcoRI restriction fragment length polymorphisms (RFLPs) and a 15-bp variable number of tandem repeats (VNTR) region 3' to the apoB gene] with plasma concentrations of cholesterol, high density lipoprotein cholesterol, triglycerides and apolipoprotein B-100 in 464 randomly selected Danish men born in 1948. The XbaI RFLP and the insertion/deletion length polymorphism were significantly associated with plasma concentration and inter-individual variation of cholesterol and apolipoprotein B-100 (1.77% and 1.37% of sample variance in cholesterol, and 1.4% and 1.39% of sample variance in apoB). The association was particularly strong in men with a body mass index less than 25 kg/m2 (the mean value of the whole cohort) (3.43% and 2.93% of sample variance in cholesterol, and 3.1% and 2.13% of sample variance in apoB). The XbaI RFLP and the insertion/deletion length polymorphism were in strong linkage disequilibrium, explaining why independent associations of these two polymorphisms with cholesterol and apoB could not be established. There were no other associations between apoB gene polymorphisms and lipoprotein components.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00230221