Lin H.-P.JAU-TSUEN KAO2020-07-032020-07-0320030009-8981https://scholars.lib.ntu.edu.tw/handle/123456789/508144Background: 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 ε2/2 genotype prevalence, only two of the type III HLP subjects were of the apo ε2/2 genotype (25%). Fifty percent of the type III HLP were of apo ε2/3 genotype. This observation was further reflected in a lower frequency of the ε2 allele (0.563) and higher ε3 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 ε2/3 instead of apo ε2/2. ? 2003 Elsevier Science B.V. All rights reserved.[SDGs]SDG3apolipoprotein E; apolipoprotein E2; apolipoprotein E3; lipoprotein; triacylglycerol; adult; aged; article; controlled study; electrophoresis; female; gene frequency; gene sequence; genotype; human; hyperlipoproteinemia type 3; major clinical study; male; priority journal; blood; DNA sequence; genetics; genotype; hyperlipoproteinemia type 3; middle aged; prevalence; Taiwan; Aged; Apolipoprotein E2; Apolipoprotein E3; Apolipoproteins E; Electrophoresis; Female; Genotype; Humans; Hyperlipoproteinemia Type III; Lipoproteins; Male; Middle Aged; Prevalence; Sequence Analysis, DNA; Taiwan; Triglyceridesjournal article10.1016/S0009-8981(03)00050-0126369372-s2.0-0037375356