Apolipoprotein Epsilon 2/3 Genotype and Type Iii Hyperlipoproteinemia among Taiwanese
Resource
CLINICA CHIMICA ACTA v.330 n.1-2 pp.173-178
Journal
CLINICA CHIMICA ACTA
Journal Volume
v.330
Journal Issue
n.1-2
Pages
173-178
Date Issued
2003
Date
2003
Author(s)
KAO, JAU-TSUEN
Abstract
Background: Type III hyperlipoproteinemia (HLP) is a genetic disorder of lipid metabolism in humans that predisposes affected subjects to the premature development of atherosclerosis. Most type III HLP occurs in homozygous carriers of apolipoprotein (apo) E2. The aims of this study were to determine the frequencies of different apo E genotypes in type III HLP in Taiwanese and to assess the possibility of apo E mutants in these patients. Materials and methods: Four hundred and seven patients with hyperlipoproteinemia were recruited. Electrophoresis, apo E genotyping and sequencing were performed. Results: Of the 407 hyperlipoproteinemia, 8 were identified as type III HLP. In contrast to reports of high apo epsilon2/2 genotype prevalence, only two of the type HI HLP subjects were of the apo epsilon2/2 genotype (25%). Fifty percent of the type III HLP were of apo epsilon2/3 genotype. This observation was further reflected in a lower frequency of the epsilon2 allele (0.563) and higher epsilon3 allele (0.375) frequency. No rare apo E variant was found by direct sequencing. Conclusion: The most common genotype of type III HLP in Taiwan was apo epsilon2/3 instead of apo epsilon2/2. (C) 2003 Elsevier Science B .V. All rights reserved.
Subjects
FAMILIAL DYSBETALIPOPROTEINEMIA
E GENE
APOE PHENOTYPE
E POLYMORPHISM
VARIANT
LIPOPROTEINS