Role of functional variants and mutations of the apolipoprotein A5 gene in human pathology

Balázs Duga, Béla I. Melegh, Katalin Sümegi, Anita Maász, Péter Kisfali, Katalin Komlósi, Béla Melegh

Research output: Chapter in Book/Report/Conference proceedingChapter


One of the many factors affecting the lipid metabolism by a complex manner is the apolipoprotein A-5 (ApoA5). The gene of the ApoA5 is located on chromosome 11q23 in the ApoA1/C3/A4/A5 gene cluster. With a moderate rage of circulating plasma ApoA5 concentration (50-250 ng/ml), it plays an effective regulatory role in triglyceride metabolism. In the plasma, the protein is found mainly on TG rich lipoproteins such as chylomicrons and VLDL where it shows an opposite effect as the ApoC3, namely enhancing lipoprotein lipase mediated triglyceride catabolism. It comes from this key role of the ApoA5, that the common naturally occurring variants (like T-1131C, T1259C, C56G, and IVS3+G476A) and haplotypes determined by them are associated with elevated plasma triglyceride concentrations, these variants and haplotype combinations have been shown to confer risk or protection for development of cardiovascular disease, stroke and metabolic syndrome. However, there are also some less frequent genetic variants that in combination with the common allelic variants of the gene can define haplotypes that are associated with more pronounced triglyceride level increase. In addition, there are rare mutations of the ApoA5 gene which are associated with specific complex phenotype that includes extremely high triglyceride levels with multiple organ pathology. The current chapter summarizes these three groups represented by point mutations, deletion/insertion mutations, splicing mutations, and associate with different human pathology.

Original languageEnglish
Title of host publicationApolipoproteins
Subtitle of host publicationRegulatory Functions, Health Effects and Role in Disease
PublisherNova Science Publishers, Inc.
Number of pages18
ISBN (Print)9781622574841
Publication statusPublished - Oct 1 2012

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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    Duga, B., Melegh, B. I., Sümegi, K., Maász, A., Kisfali, P., Komlósi, K., & Melegh, B. (2012). Role of functional variants and mutations of the apolipoprotein A5 gene in human pathology. In Apolipoproteins: Regulatory Functions, Health Effects and Role in Disease (pp. 75-92). Nova Science Publishers, Inc..