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Isolation and Analysis of Plasma Lipoproteins by Ultracentrifugation
Published on: January 28, 2021
Polymorphisms in the apolipoprotein A5 (APOA5) gene and type III hyperlipidemia
1Allgemeine Innere Medizin, Zentrum für Innere Medizin, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany. evans@uke.uni-hamburg.de
Clinical Genetics
|September 7, 2005
Summary
Genetic variations in the APOA5 gene are key factors contributing to type III hyperlipidemia (HLP) in individuals with the APOE2/2 genotype. These APOA5 gene polymorphisms significantly increase the risk of developing type III HLP.
Area of Science:
- Genetics
- Metabolic Disorders
- Molecular Biology
Background:
- Type III hyperlipidemia (HLP) is strongly associated with the APOE epsilon2 allele.
- However, only a fraction of APOE2/2 homozygotes develop type III HLP, suggesting other genetic factors are involved.
Purpose of the Study:
- To investigate the role of APOA5 gene polymorphisms (-1131T>C and S19W) as potential cofactors in type III HLP development among APOE2/2 individuals.
Main Methods:
- Genotyping for APOE2/2 status and two specific APOA5 gene polymorphisms (-1131T>C and S19W).
- Comparison of polymorphism frequencies between 72 type III HLP patients with APOE2/2 genotype and a control population.
Main Results:
- The frequency of both APOA5 polymorphisms (-1131T>C and S19W) was significantly higher in APOE2/2 patients with type III HLP compared to controls.
- 53% of APOE2/2 patients carried at least one of these APOA5 polymorphisms, versus 19.7% in the control group.
Conclusions:
- Genetic variations within the APOA5 gene act as crucial cofactors in the pathogenesis of type III hyperlipidemia.
- APOA5 gene polymorphisms are important determinants for the manifestation of type III HLP in individuals with the APOE2/2 genotype.
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