APOC3 and ABCA1 variants in unusual combined hypolipidaemia showing premature peripheral vascular disease.

IF 1.5 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL
Zuzana Pos, Milad Khedr, Jan Radvanszky, Adela Penesova, Rastislav Hekel, Tomas Szemes, Lakshminarayan Rao Ranganath, Andrea Zatkova
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引用次数: 0

Abstract

Background: Familial combined hypolipidaemia is a condition characterised by very low concentrations of circulating very-low-density lipoprotein (VLDL), low-density lipoprotein cholesterol (LDL), and high-density lipoprotein cholesterol (HDL). It is thought that low LDL/combined hypolipidaemia can protect from cardiovascular disease (CVD), but this is not what we found in a case we present.

Objective: We report on a 57-years-old male patient with combined hypolipidaemia who presented with premature peripheral vascular disease. We investigated also his two sons, 32- and 27-years-old, who manifested a tendency to low lipid levels.

Methods and results: We used Illumina exome analysis in all three individuals and in all of them we could exclude the major effect of the variants within the genes most frequently mutated in hypolipidaemia, including recently reported LIPC gene variant. Instead, in all three individuals we identified a novel ABCA1 variant, possibly responsible for the decreased HDL levels. The proband and one of his sons also share the splicing APOC3 variant rs138326449, known to be associated with decreased TG levels.

Conclusion: The heterogeneous nature and the risk of atherosclerosis in combined hypolipidaemia seems to be variable, based on an interplay between low HDL and LDL levels, and it depends on the combination of variants that cause it (Tab. 2, Ref. 38).

apo3和ABCA1变异在不寻常的合并低脂血症中显示过早的周围血管疾病。
背景:家族性合并低脂血症是一种以循环极低密度脂蛋白(VLDL)、低密度脂蛋白胆固醇(LDL)和高密度脂蛋白胆固醇(HDL)浓度非常低为特征的疾病。人们认为低LDL/合并低脂血症可以预防心血管疾病(CVD),但这并不是我们在本病例中发现的。目的:我们报告了一位57岁男性合并低脂血症患者,他表现为过早的周围血管疾病。我们还调查了他的两个儿子,32岁和27岁,他们表现出低血脂水平的趋势。方法和结果:我们对所有三个个体进行了Illumina外显子组分析,在所有这些个体中,我们都可以排除在低脂血症中最常突变的基因内的变异的主要影响,包括最近报道的LIPC基因变异。相反,在所有三个个体中,我们发现了一种新的ABCA1变体,可能是导致HDL水平下降的原因。先证者和他的一个儿子也共享剪接APOC3变体rs138326449,已知与TG水平降低有关。结论:合并低脂血症的异质性和动脉粥样硬化风险似乎是可变的,基于低HDL和低LDL水平之间的相互作用,它取决于导致它的变异的组合(表2,参考文献38)。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
2.60
自引率
0.00%
发文量
185
审稿时长
3-8 weeks
期刊介绍: The international biomedical journal - Bratislava Medical Journal – Bratislavske lekarske listy (Bratisl Lek Listy/Bratisl Med J) publishes peer-reviewed articles on all aspects of biomedical sciences, including experimental investigations with clear clinical relevance, original clinical studies and review articles.
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