Apolipoprotein E phenotypes in familial hypercholesterolaemia: importance for expression of disease and response to therapy

Lars Berglund, O. Wiklund, G. Eggertsen, S. O. Olofsson, M. Eriksson, T. Linden, G. Bondjers, B. Angelin

Research output: Contribution to journalArticle

47 Scopus citations

Abstract

To study the possible importance of variation at the apolipoprotein (apo) E gene locus for the clinical expression of heterozygous familial hypercholesterolaemia (FH), we determined apo E phenotype and serum lipoprotein pattern in 120 patients with FH. The allele frequency of the patients studies were: ε2 0.033, ε3 0.733, and ε4 0.233. There was no influence of apo E phenotype on the serum concentrations of total, VLDL, LDL or HDL cholesterol, triglycerides, or of apo AI, B or (a). Serum concentrations of apo E were significantly higher in patients with the apo E 3/3 phenotype compared to those with apo E 4/3 or 4/4, and the highest concentrations were found in patients carrying the ε2-allele. The cholesterol-lowering response to therapy with cholestyramine or pravastatin was not related to apo E phenotype. It is concluded that variation at the apo E gene locus is not of major importance for the expression of heterozygous FH.

Original languageEnglish (US)
Pages (from-to)173-178
Number of pages6
JournalJournal of Internal Medicine
Volume233
Issue number2
StatePublished - 1993
Externally publishedYes

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Keywords

  • apolipoprotein E
  • cholesterol
  • cholestyramine
  • lipoprotein
  • pravastatin
  • triglyceride

ASJC Scopus subject areas

  • Internal Medicine

Cite this

Berglund, L., Wiklund, O., Eggertsen, G., Olofsson, S. O., Eriksson, M., Linden, T., Bondjers, G., & Angelin, B. (1993). Apolipoprotein E phenotypes in familial hypercholesterolaemia: importance for expression of disease and response to therapy. Journal of Internal Medicine, 233(2), 173-178.