title: Apolipoprotein epsilon 2/3 genotype and type III hyperlipoproteinemia among Taiwanese.
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.
  
  
  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 epsilon 2/2 genotype prevalence, only two of the type III HLP subjects were of the apo epsilon 2/2 genotype (25%). Fifty percent of the type III HLP were of apo epsilon 2/3 genotype. This observation was further reflected in a lower frequency of the epsilon 2 allele (0.563) and higher epsilon 3 allele (0.375) frequency. No rare apo E variant was found by direct sequencing.
  
  
  CONCLUSIONS
  The most common genotype of type III HLP in Taiwan was apo epsilon 2/3 instead of apo epsilon 2/2.
authors.affiliation: Graduate Institute of Medical Technology, College of Medicine, National Taiwan University, Taipei, Taiwan, ROC.
authors.forename: Hsing-Pei
authors.initials: HP
authors.lastname: Lin
authors.forename: Jau-Tsuen
authors.initials: JT
authors.lastname: Kao
mesh_terms: D000368:Aged; D053329:Apolipoprotein E2; D053318:Apolipoprotein E3; D001057:Apolipoproteins E / Q000097:blood / Q000235:genetics*; D004586:Electrophoresis; D005260:Female; D005838:Genotype; D006801:Humans; D006952:Hyperlipoproteinemia Type III / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D008074:Lipoproteins / Q000097:blood; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D017422:Sequence Analysis, DNA; D013624:Taiwan / Q000453:epidemiology; D014280:Triglycerides / Q000097:blood
chemical_list: D053329:Apolipoprotein E2; D053318:Apolipoprotein E3; D001057:Apolipoproteins E; D008074:Lipoproteins; D014280:Triglycerides