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缺血性脑卒中患者中 GALTN2 和 MLXIPL 的甘油三酯水平修饰功能变异。

Triglyceride level modifying functional variants of GALTN2 and MLXIPL in patients with ischaemic stroke.

机构信息

University of Pécs, Medical School, Department of Medical Genetics, Pécs, Hungary.

出版信息

Eur J Neurol. 2010 Aug;17(8):1033-9. doi: 10.1111/j.1468-1331.2010.02957.x. Epub 2010 Feb 10.

Abstract

BACKGROUND

Recent genome-wide studies identified several genetic variants associated with blood lipid level alterations. Because affected lipid metabolism can confer risk to the development of ischaemic stroke, we studied three polymorphisms reportedly associated with triglyceride-level changes, rs17145738 and rs3812316 of the MLXIPL locus, and rs4846914 variant of GALNT2 gene in biobanked samples of patients with stroke. This pool of samples was previously investigated for haplotype tagging minor alleles of apolipoprotein A5 gene (T-1131C, T1259C, IVS3+G476A and C56G), and an association was found between the minor allele carriage and the triglyceride levels, and also these variants were found to confer risk to the development of stroke.

METHODS

Here, a total of 467 patients with stroke, stratified as large vessel, small vessel and mixed stroke groups, and 156 control subjects were genotyped using PCR-RFLP methods.

RESULTS

In the current study, we could not verify association of the variants analyzed either with triglyceride and total cholesterol levels or with the risk of ischaemic stroke susceptibility.

CONCLUSIONS

The data presented here revealed differentiated risk nature of the triglyceride level modifying natural gene variants.

摘要

背景

最近的全基因组研究确定了几个与血脂水平变化相关的遗传变异。由于受影响的脂质代谢可能导致缺血性中风的发展风险,我们研究了三个据称与甘油三酯水平变化相关的多态性,即 MLXIPL 基因座的 rs17145738 和 rs3812316,以及 GALNT2 基因的 rs4846914 变体,这些多态性在中风患者的生物样本库中进行了研究。该样本库先前曾对载脂蛋白 A5 基因(T-1131C、T1259C、IVS3+G476A 和 C56G)的小等位基因进行了单倍型标记研究,发现小等位基因的携带与甘油三酯水平之间存在关联,并且这些变体也与中风的发展风险相关。

方法

本研究共对 467 名中风患者(分为大血管、小血管和混合性中风组)和 156 名对照进行了 PCR-RFLP 方法的基因分型。

结果

在本研究中,我们无法证实分析的变异与甘油三酯和总胆固醇水平或缺血性中风易感性的风险之间存在关联。

结论

本研究结果揭示了不同的甘油三酯水平调节自然基因变异的风险性质。

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