title: Apolipoprotein E phenotypes in familial hypercholesterolaemia: importance for expression of disease and response to therapy.
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: epsilon 2 0.033, epsilon 3 0.733, and epsilon 4 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 epsilon 2-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.
authors.affiliation: Department of Clinical Chemistry, Karolinska Institute at Huddinge University Hospital, Sweden.
authors.forename: L
authors.initials: L
authors.lastname: Berglund
authors.forename: O
authors.initials: O
authors.lastname: Wiklund
authors.forename: G
authors.initials: G
authors.lastname: Eggertsen
authors.forename: S O
authors.initials: SO
authors.lastname: Olofsson
authors.forename: M
authors.initials: M
authors.lastname: Eriksson
authors.forename: T
authors.initials: T
authors.lastname: Lindén
authors.forename: G
authors.initials: G
authors.lastname: Bondjers
authors.forename: B
authors.initials: B
authors.lastname: Angelin
mesh_terms: D001057:Apolipoproteins E / Q000235:genetics*; D002792:Cholestyramine Resin / Q000627:therapeutic use; D004311:Double-Blind Method; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000188:drug therapy* / Q000235:genetics*; D008055:Lipids / Q000097:blood; D010641:Phenotype; D017035:Pravastatin / Q000627:therapeutic use; D016896:Treatment Outcome
chemical_list: D001057:Apolipoproteins E; D008055:Lipids; D002792:Cholestyramine Resin; D017035:Pravastatin