肝脂肪酶活性变异与肝脂肪酶基因启动子变异的关联。LOCAT研究调查人员。
Association of variation in hepatic lipase activity with promoter variation in the hepatic lipase gene. The LOCAT Study Invsestigators.
作者信息
Tahvanainen E, Syvanne M, Frick M H, Murtomaki-Repo S, Antikainen M, Kesaniemi Y A, Kauma H, Pasternak A, Taskinen M R, Ehnholm C
机构信息
Department of Biochemistry, National Public Health Institute, 00300 Helsinki, Finland.
出版信息
J Clin Invest. 1998 Mar 1;101(5):956-60. doi: 10.1172/JCI1144.
Abstract
The associations between six genetic polymorphisms in the hepatic lipase (HL) gene (LIPC) and variation in postheparin HL activity and fasting serum lipoproteins were evaluated in 395 male Finnish coronary heart disease patients with HDL cholesterol concentrations </= 1.1 mmol/liter. The LIPC promoter polymorphism at position -514 was highly significantly associated with variation in HL activity (P = 0.0000008), with mean activities of 20.4, 17.5, and 13.2 mumol free fatty acid/ml per hour in subjects having C/C, C/T, and T/T genotypes, respectively. Furthermore, the triglyceride content of low density lipoprotein, intermediate density lipoprotein and HDL, and the cholesterol content of intermediate density lipoprotein were found to be associated with variation at LIPC position -514. However, there was no association of this polymorphism with coronary heart disease. These data suggest that the LIPC promoter variation is likely to be the basis for variation in HL activity, which underlies the variation in serum lipoprotein phenotypes in this sample.
摘要
在395名高密度脂蛋白胆固醇浓度≤1.1 mmol/升的芬兰男性冠心病患者中，评估了肝脂酶（HL）基因（LIPC）中的六个基因多态性与肝素后HL活性变化及空腹血清脂蛋白之间的关联。位于-514位的LIPC启动子多态性与HL活性变化高度显著相关（P = 0.0000008），C/C、C/T和T/T基因型受试者的平均活性分别为每小时20.4、17.5和13.2微摩尔游离脂肪酸/毫升。此外，发现低密度脂蛋白、中间密度脂蛋白和高密度脂蛋白的甘油三酯含量以及中间密度脂蛋白的胆固醇含量与LIPC -514位的变化有关。然而，这种多态性与冠心病无关联。这些数据表明，LIPC启动子变异可能是HL活性变化的基础，而HL活性变化是该样本中血清脂蛋白表型变化的基础。
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