Title
Plasma apoAV levels are markedly elevated in severe hypertriglyceridemia and positively correlated with the APOA5 S19W polymorphism
Author
Henneman, P.
Schaap, F.G.
Havekes, L.M.
Rensen, P.C.N.
Frants, R.R.
van Tol, A.
Hattori, H.
Smelt, A.H.M.
van Dijk, K.W.
TNO Kwaliteit van Leven
Publication year
2007
Abstract
Objective: The recently discovered apoAV is hypothesized to affect triglyceride metabolism by stimulating the lipolysis of triglycerides in VLDL and chylomicrons. We set out to determine the association between increased serum TG levels, plasma apoAV levels, and polymorphism of the APOA5 gene, with specific emphasis on the APOA5 S19W variation. This mutation alters the endoplasmic reticulum signal peptide and is hypothesized to impair apoAV secretion into the circulation. Methods and results: Two haplotype-tagging APOA5 polymorphisms, APOA5 S19W and APOA5 -1131T > C and plasma apoAV levels were determined in a population of patients with severe hypertriglyceridemia (HTG). As compared to a random control population, the allele frequencies of the APOA5 S19W and -1131T > C rare variants were significantly increased in HTG patients. Furthermore, the HTG population exhibited markedly elevated plasma apoAV levels that were positively correlated with serum TG levels. Plasma apoAV levels were positively correlated with occurrence of the APOA5 S19W rare variant. Conclusions: The increased allele frequencies of the APOA5 S19W and -1131T > C rare variants in the HTG population are in agreement with previous reports. Our data show a positive correlation between apoAV and TG levels. Moreover the finding of a positive association between apoAV levels and the APOA5 S19W rare variant is in disagreement with the hypothesis that this variant is poorly secreted. © 2006 Elsevier Ireland Ltd. All rights reserved.
Subject
Biology
Biomedical Research
apoAV
Hypertriglyceridemia
Lipoprotein lipase
Plasma apoAV concentration
SNP-analysis
apolipoprotein A5
adult
allele
article
circulation
controlled study
endoplasmic reticulum
female
gene frequency
gene mutation
genetic polymorphism
genetic variability
haplotype
human
hypertriglyceridemia
lipolysis
major clinical study
male
priority journal
protein secretion
single nucleotide polymorphism
Adult
Alleles
Apolipoproteins A
Base Sequence
Case-Control Studies
DNA Primers
Female
Gene Frequency
Haplotypes
Humans
Hypertriglyceridemia
Male
Middle Aged
Polymorphism, Single Nucleotide
To reference this document use:
http://resolver.tudelft.nl/uuid:84220030-809c-490c-892f-8ab74a6c154b
DOI
https://doi.org/10.1016/j.atherosclerosis.2006.05.030
TNO identifier
240057
ISSN
0021-9150
Source
Atherosclerosis, 193 (1), 129-134
Document type
article