Plasma apoAV levels are markedly elevated in severe hypertriglyceridernia and positively correlated with the APOA5 S19W polymorphism
Plasma apoAV levels are markedly elevated in severe hypertriglyceridernia and positively correlated with the APOA5 S19W polymorphism
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DOI：
10.1016/j.atherosclerosis.2006.05.030
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发表时间：
2007-07-01
期刊：
影响因子：
5.3
通讯作者：
van Dijk, Ko Willems
中科院分区：
文献类型：
--
作者：
Henneman, Peter;Schaap, Frank G.;van Dijk, Ko Willems
目的：最近发现的apoAV被假设通过刺激VLDL和乳糜微粒中甘油三酯的脂解来影响甘油三酯代谢。我们着手确定血清TG水平升高、血浆apoAV水平升高和APOA 5基因多态性之间的关系，特别强调APOA 5 S19 W变异。这种突变改变了内质网信号肽，并假设损害apoAV分泌到circulation.Methods和结果：两个单倍型标记APOA 5多态性，APOA 5 S 19 W和APOA 5 - 113 IT > C和血浆apoAV水平测定在严重hyperplasticidernia（HTG）患者的人口。与随机对照人群相比，HTG患者中APOA 5 S 19 W和-113 1 T > C罕见变异的等位基因频率显著增加。此外，HTG人群血浆apoAV水平显著升高，与血清TG水平呈正相关。血浆apoAV水平与APOA 5 S19 W罕见变异的发生呈正相关。结论：HTG人群中APOA 5 S19 W和-113 1 T > C罕见变异的等位基因频率增加与以前的报道一致。我们的数据显示apoAV和TG水平之间呈正相关。此外，apoAV水平与APOA 5 S19 W罕见变体之间正相关的发现与该变体分泌不良的假设不一致。(c)2006爱思唯尔爱尔兰有限公司保留所有权利。
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 S 19W and APOA5 -113 IT > C and plasma apoAV levels were determined in a population of patients with severe hypertriglyceridernia (HTG). As compared to a random control population, the allele frequencies of the APOA5 S 19W and - 113 1 T > 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 S 19W and - 113 1 T > 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. (c) 2006 Elsevier Ireland Ltd. All rights reserved.