Strong association of a single nucleotide substitution in the 3'-untranslated region of the apolipoprotein-CIII gene with common hypertriglyceridemia in Arabs.
A potential genetic marker for hypertriglyceridemia and coronary disease, an apolipoprotein-CIII gene allele displaying a single nucleotide substitution, was found in 71% of Arabs with primary hypertriglyceridemia. Over 96% of the unrelated adults possessing this allele showed hypertriglyceridemia. The same allele was found rarely among normotriglyceridemic subjects. In further support of involvement in hypertriglyceridemia, this allele was co-inherited with increased serum triglycerides in a three-generation family. Moreover, a gene dosage effect was also found. A mechanism of action for the allele is suggested by the findings that the subjects possessing the allele show markedly increased very-low-density lipoproteins, decreased high-density lipoproteins, and borderline chylomicronemia demonstrable by lipoprotein electrophoresis. Electrophoresis of the selectively amplified-restricted apolipoprotein-CIII DNA on agarose gel provides a rapid diagnostic test that allows identification of the subjects with this allele in less than a day.
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Department of Pathology, Kuwait University Faculty of Medicine, Safat.
D000328:Adult; D000483:Alleles; D053305:Apolipoprotein C-III; D001056:Apolipoproteins C / Q000235:genetics*; D002784:Cholesterol / Q000097:blood; D005260:Female; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D006953:Hyperlipoproteinemia Type IV / Q000208:ethnology / Q000235:genetics*; D007730:Kuwait; D008297:Male; D014280:Triglycerides / Q000097:blood
D053305:Apolipoprotein C-III; D001056:Apolipoproteins C; D005819:Genetic Markers; D014280:Triglycerides; D002784:Cholesterol