Human Genetics

, Volume 65, Issue 3, pp 237–241

Apolipoprotein E phenotypes in patients with myocardial infarction

  • G. Utermann
  • A. Hardewig
  • F. Zimmer
Original Investigations

DOI: 10.1007/BF00286509

Cite this article as:
Utermann, G., Hardewig, A. & Zimmer, F. Hum Genet (1984) 65: 237. doi:10.1007/BF00286509


The frequencies of genetic apo E isoforms E2, E3 and E4 were determined in 523 patients with myocardial infarction and compared to those in a control group (1031 blood donors). A significant difference in the frequency of apo E4 was noted between patients and controls (0.05> P>0.025). No differences in the frequencies of isoforms E3 and E2 were observed. In particular, there was no significant difference between the two groups in the frequency of apo E2 homozygosity. a condition that is associated with type III hyperlipoproteinemia. However, all E2 homozygote survivors of myocardial infarction had hyperlipoproteinemia type III (cholesterol 269±29 mg/dl; triglyceride 419±150 mg/dl; age 54±14 years; N=5). On the contrary, E2 homozygote controls (all apo E-2/2 blood donors and their apo E-2/2 relatives who were from the same age range as the patients) had primary dysbetalipoproteinemia but normal or subnormal plasma cholesterol concentrations (cholesterol 184±28 mg/dl; triglyceride 151±52 mg/dl; age 56±13 years; N=11). This indicates that E2 homozygotes with hyperlipoproteinemia type III who occur rarely in the population but comprise about 1% of myocardial infarction patients have a markedly increase risk for coronary atherosclerosis, whereas the risk for E2 homozygotes with normal or subnormal plasma cholesterol (=primary dysbetalipoproteinemia) may be considerably lower than for the general population. The data illustrate the complex relationship between apo E genes, lipid levels, and risk for atherosclerosis.

Copyright information

© Springer-Verlag 1984

Authors and Affiliations

  • G. Utermann
    • 1
  • A. Hardewig
    • 2
  • F. Zimmer
    • 3
  1. 1.Institut für Humangenetik der Universität MarburgMarburg/LahnFederal Republic of Germany
  2. 2.Zentrum für Innere Medizin der Universität MarburgMarburg/LahnFederal Republic of Germany
  3. 3.Rehabilitationszentrum Bad KrozingenBad KrozingenFederal Republic of Germany

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