title: Frequency and role of apo E phenotype in familial hypercholesterolemia and non-familial hyperlipidemia in the Japanese.
abstract: The frequencies of the major apolipoprotein E(apo E) phenotypes in 65 normal, 426 hyperlipidemics, and 92 familial hypercholesterolemic Japanese subjects (FH) were studied, and features of hyperlipidemia compared between non-FH hyperlipidemia and FH. The frequencies of apo E phenotypes 3/3, 4/3, 3/2, 4/4 were almost the same in normal, non-FH hyperlipidemic, and FH subjects. The incidence of apo E7 was about 0.5% of total subjects. In type IV and V hyperlipidemias, incidence of E4/3 was higher than in any other hyperlipidemia. Incidence of E3/2 was also high in types III and V. In type II non-FH hyperlipidemia, incidence of E3/2 in type IIb was higher than in type IIa. VLDL-triglyceride, VLDL-cholesterol, apo C-II, apo C-III, and apo E levels were higher in E3/2 than in E3/3. But, in type IIa FH and type IIb FH, the incidence of E3/2 was the same, and lipid and apolipoprotein levels between 3/2 and 3/3 in FH were the same. These results indicate that allele epsilon 2 may be involved in the retention of VLDL or IDL, but not in FH.
authors.affiliation: Second Department of Internal Medicine, School of Medicine, Chiba University, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Kitahara
authors.forename: M
authors.initials: M
authors.lastname: Shinomiya
authors.forename: K
authors.initials: K
authors.lastname: Shirai
authors.forename: Y
authors.initials: Y
authors.lastname: Saito
authors.forename: S
authors.initials: S
authors.lastname: Yoshida
mesh_terms: D001057:Apolipoproteins E / Q000032:analysis* / Q000235:genetics; D006801:Humans; D006949:Hyperlipidemias / Q000097:blood* / Q000208:ethnology; D006938:Hyperlipoproteinemia Type II / Q000097:blood* / Q000208:ethnology; D007564:Japan; D008055:Lipids / Q000097:blood; D008074:Lipoproteins / Q000097:blood; D010641:Phenotype
chemical_list: D001057:Apolipoproteins E; D008055:Lipids; D008074:Lipoproteins