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7078164 
Journal Article 
APOLIPOPROTEIN-E PHENOTYPES IN FAMILIAL HYPERCHOLESTEROLEMIA - IMPORTANCE FOR EXPRESSION OF DISEASE AND RESPONSE TO THERAPY 
Berglund, L; Wiklund, O; Eggertsen, G; Olofsson, SO; Eriksson, M; Linden, T; Bondjers, G; Angelin, B; , 
1993 
Yes 
Journal of Internal Medicine
ISSN: 0954-6820
EISSN: 1365-2796 
BLACKWELL SCIENCE LTD 
OXFORD 
173-178 
8433078 
WOS:A1993KN31700012 
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: epsilon2 0.033, epsilon3 0.733, and epsilon4 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 epsilon2-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.