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Allele-specific differences in apolipoprotein C-III mRNA expression in human liver
H Esterbauer1, E Hell, F Krempler
1Department of Laboratory Medicine, Landeskrankenanstalten Salzburg, Muellner Hauptstrasse 48, A-5020 Salzburg, Austria.
Clinical Chemistry
|March 3, 1999
Summary
Genetic variations in the apolipoprotein C-III (apoC-III) gene, specifically the S2 allele, may increase triglyceride levels. This study found evidence that the S2 allele can lead to higher apoC-III mRNA expression in vivo.
Area of Science:
- Genetics
- Molecular Biology
- Cardiovascular Disease
Background:
- Sequence variations in the apolipoprotein (apo)C-III gene locus are linked to elevated plasma triglycerides.
- The S2 allele of an SstI polymorphism in the 3' untranslated region is frequently associated with hypertriglyceridemia.
Purpose of the Study:
- To investigate whether the variant S2 allele is associated with increased apoC-III mRNA expression in living individuals (in vivo).
Main Methods:
- Analysis of allele-specific apoC-III expression in liver biopsies from five obese subjects.
- Utilized restriction isotyping and a primer extension method based on the SstI polymorphism.
Main Results:
- The S2 allele showed higher mRNA abundance (14-29% more) compared to the wild-type in three out of five subjects.
- While no single polymorphism or haplotype perfectly predicted expression, variation at the T-482C site showed a correlation with relative allele abundance in four subjects.
Conclusions:
- Preliminary evidence suggests allele-specific differences in apoC-III mRNA expression exist in vivo.
- These expression differences may contribute to the observed association between apoC-III gene polymorphisms and hypertriglyceridemia.