Apolipoprotein ε2/3 genotype and type III hyperlipoproteinemia among Taiwanese

Autor: Jau-Tsuen Kao, Hsing-Pei Lin
Rok vydání: 2003
Předmět:
Zdroj: Clinica Chimica Acta. 330:173-178
ISSN: 0009-8981
Popis: 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 e2/2 genotype prevalence, only two of the type III HLP subjects were of the apo e2/2 genotype (25%). Fifty percent of the type III HLP were of apo e2/3 genotype. This observation was further reflected in a lower frequency of the e2 allele (0.563) and higher e3 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 e2/3 instead of apo e2/2.
Databáze: OpenAIRE