The use of measured genotype information in the analysis of quantitative phenotypes in man. II. The role of the apolipoprotein E polymorphism in determining levels, variability, and covariability of cholesterol, betalipoprotein, and triglycerides in a sample of unrelated individuals

Am J Med Genet. 1987 Jul;27(3):567-82. doi: 10.1002/ajmg.1320270310.

Abstract

Recent advances in molecular biology provide measures of genotypes at loci involved in lipid metabolism. Genotypes for apolipoprotein E (apo E) and quantitative levels of total plasma cholesterol, betalipoprotein, and triglycerides were measured in a sample of 223 unrelated individuals from Nancy, France. The frequencies of the epsilon 2, epsilon 3, and epsilon 4 alleles are 0.13, 0.74, and 0.13, respectively, in this sample. Significant differences among apo E genotypes were detected for these lipoprotein phenotypes. The average effect of the epsilon 2 allele was to reduce total plasma cholesterol and betalipoprotein levels by 0.52 mmol/L and 0.98, respectively, while the epsilon 4 allele raised these levels by 0.26 mmol/L and 0.61, respectively. Apo E genotype specific correlations suggest that this locus also has an effect on the coordinated metabolism between cholesterol and triglycerides. We infer that approximately 17% of the genetic variability in total plasma cholesterol may be attributable to this apo E polymorphism. No other single locus has been identified with such a large contribution to cardiovascular disease risk factors in the general population.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Apolipoproteins E / blood
  • Apolipoproteins E / genetics*
  • Arteriosclerosis / genetics
  • Cholesterol / blood*
  • France
  • Gene Frequency
  • Genotype
  • Humans
  • Lipid Metabolism
  • Lipoproteins, LDL / blood*
  • Phenotype
  • Polymorphism, Genetic
  • Risk
  • Statistics as Topic
  • Triglycerides / blood*

Substances

  • Apolipoproteins E
  • Lipoproteins, LDL
  • Triglycerides
  • Cholesterol