Apolipoprotein epsilon 2/3 genotype and type III hyperlipoproteinemia among Taiwanese.
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.
Lin
Hsing-Pei
HP
Graduate Institute of Medical Technology, College of Medicine, National Taiwan University, Taipei, Taiwan, ROC.
Kao
Jau-Tsuen
JT
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
D053329:Apolipoprotein E2; D053318:Apolipoprotein E3; D001057:Apolipoproteins E; D008074:Lipoproteins; D014280:Triglycerides