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ABCA1 基因突变可调节健康男性的餐后脂质代谢。

ABCA1 gene variants regulate postprandial lipid metabolism in healthy men.

机构信息

Lipids and Atherosclerosis Unit, Instituto Maimónides de Investigación Biomédica de Córdoba, Córdoba, Spain.

出版信息

Arterioscler Thromb Vasc Biol. 2010 May;30(5):1051-7. doi: 10.1161/ATVBAHA.109.202580. Epub 2010 Feb 25.

Abstract

OBJECTIVE

Genetic variants of ABCA1, an ATP-binding cassette (ABC) transporter, have been linked to altered atherosclerosis progression and fasting lipid concentration, mainly high-density lipoproteins and apolipoprotein A1; however, results from different studies have been inconsistent.

METHODS AND RESULTS

To further characterize the effects of ABCA1 variants in human postprandial lipid metabolism, we studied the influence of 3 single nucleotide polymorphisms (i27943 [rs2575875]; i48168 [rs4149272]; R219K [rs2230806]) in the postprandial lipemia of 88 normolipidemic young men who were given a fatty meal. For i27943 and i48168 single nucleotide polymorphisms, fasting and postprandial values of apolipoprotein A1 were higher and postprandial lipemia was much lower in homozygotes for the major alleles, total triglycerides in plasma, and large triglyceride-rich lipoprotein triglycerides. These persons also showed a higher apolipoprotein A1/apolipoprotein B ratio. Major allele homozygotes for i48168 and i27943 showed additionally higher high-density lipoproteins and lower postprandial apolipoprotein B.

CONCLUSION

Our work shows that major allele homozygotes for ABCA1 single nucleotide polymorphisms i27943 and i48168 have a lower postprandial response as compared to minor allele carriers. This finding may further characterize the role of ABCA1 in lipid metabolism.

摘要

目的

载脂蛋白 A1(ABCA1)是一种三磷酸腺苷结合盒(ABC)转运蛋白,其基因变异与动脉粥样硬化进展和空腹血脂浓度变化有关,主要是高密度脂蛋白和载脂蛋白 A1;然而,不同研究的结果并不一致。

方法和结果

为了进一步研究 ABCA1 变异对人类餐后脂质代谢的影响,我们研究了 3 个单核苷酸多态性(i27943[rs2575875];i48168[rs4149272];R219K[rs2230806])在 88 名血脂正常的年轻男性餐后脂血症中的影响。对于 i27943 和 i48168 单核苷酸多态性,主要等位基因纯合子的空腹和餐后载脂蛋白 A1 水平较高,餐后脂血症较低,血浆总甘油三酯和大甘油三酯富含脂蛋白甘油三酯也较低。这些人还表现出较高的载脂蛋白 A1/载脂蛋白 B 比值。i48168 和 i27943 主要等位基因纯合子的高密度脂蛋白更高,餐后载脂蛋白 B 更低。

结论

我们的工作表明,ABCA1 单核苷酸多态性 i27943 和 i48168 的主要等位基因纯合子与次要等位基因携带者相比,餐后反应较低。这一发现可能进一步阐明 ABCA1 在脂质代谢中的作用。

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