Association of I27L polymorphism of hepatocyte nuclear factor-1α gene with high-density lipoprotein cholesterol level
Association of I27L polymorphism of hepatocyte nuclear factor-1α gene with high-density lipoprotein cholesterol level
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DOI：
10.1210/jc.2002-021891
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发表时间：
2003-06-01
影响因子：
5.8
通讯作者：
Ogihara, T
中科院分区：
文献类型：
--
作者：
Babaya, N;Ikegami, H;Ogihara, T
血清高密度脂蛋白胆固醇（HDLc）水平受基因控制，它可以防止动脉粥样硬化的发生。然而，负责血清HDL-c水平的遗传成分尚未确定。最近的一项敲除小鼠研究表明，肝细胞核因子-1 α (hnf -1 α)是HDL-c代谢的重要转录调节因子。在这项研究中，研究了356名无血缘关系的日本男性hnf -1 α基因多态性异亮氨酸（Ile） 27亮氨酸（Leu）与脂质参数，特别是与血清HDL-c水平的关系。三种基因型患者的总胆固醇和甘油三酯水平无显著差异，但血清HDL-c水平与基因型有显著相关（P < 0.01，趋势检验）。Ile/Ile基因型的受试者血清HDL-c水平低，而Leu/Leu基因型的受试者血清HDL-c水平高。这些结果表明，HNF-1 α基因位点与血清HDL-c水平相关，并提示Ile27等位基因是动脉粥样硬化的危险标志。
The serum level of high-density lipoprotein cholesterol (HDLc), which protects against the development of atherosclerosis, is under genetic control. However, the genetic components responsible for the serum HDL-c level are yet to be determined. A recent knockout mouse study demonstrated that hepatocyte nuclear factor-1alpha (HNF-1alpha) is an essential transcriptional regulator of HDL-c metabolism. In this study, the association of an HNF-1alpha gene polymorphism, isoleucine (Ile) 27 leucine (Leu), with lipid parameters, in particular with serum HDL-c level, was studied in 356 unrelated Japanese men. Though no significant difference was observed in total cholesterol and triglyceride levels among the three genotypes, the serum HDL-c level was significantly associated with the genotype ( P < 0.01, trend test). Subjects with the Ile/Ile genotype had low serum HDL-c levels, and those with the Leu/Leu genotype had high serum HDL-c levels. These results demonstrate that the HNF-1 alpha gene locus is associated with serum HDL-c level and suggest that the Ile27 allele is a risk marker for atherosclerosis.