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 language||English (US)|
|Number of pages||6|
|Journal||Journal of Internal Medicine|
|State||Published - 1993|
- apolipoprotein E
ASJC Scopus subject areas
- Internal Medicine