Ghasabeh Taghi Hassanzadeh, Firoozrai Mohsen, Zonouz Abdolvahhab Ehsani, Radmehr Hassan, Zavarehee Abbas, Paoli Max
Department of Clinical Biochemistry, School of Medicine, Hamedan University of Medical Sciences, Hamedan, Iran.
Pak J Biol Sci. 2007 Dec 1;10(23):4224-9. doi: 10.3923/pjbs.2007.4224.4229.
Primary hypertriglyceridemia is considered to be a major risk factor for pancreatitis, atherosclerosis and coronary heart disease. Cholesteryl ester transfer protein gene polymorphisms known to be associated with changes in lipid levels. This study was performed by using polymerase chain reaction and restriction fragment length polymorphisms. Genotype distribution and allelic frequencies of polymorphism were determined and compared in primary hypertriglyceridemic and normotriglyceridemic subjects. The results showed that plasma cholesteryl ester transfer protein activity was significantly higher in primary hypertriglyceridemia than in controls (p = 0.001). In this study all individuals with B2B2 genotype had lower plasma cholesteryl ester transfer protein activity, higher high-density lipoprotein than B1B1 and B1B2 genotypes, whereas triglyceride was significantly decreased in this genotype. The genotype and allelic frequencies for this polymorphism differed significantly between primary hypertriglyceridemic patients and controls (p = 0.014 and p = 0.027, respectively). In both groups, CETP Taq 1B polymorphism (presence of B2 allele) correlated significantly with HDL-C (r = 0.207 and 0.300 in control and patient groups, respectively) and CETP activity (r = -0.193 for controls and r = -0.132 for patients). Taq 1B polymorphism of cholesteryl ester transfer protein gene was associated with changes in lipids profile and plasma cholesteryl ester transfer protein activity in the selected population.
原发性高甘油三酯血症被认为是胰腺炎、动脉粥样硬化和冠心病的主要危险因素。已知胆固醇酯转运蛋白基因多态性与血脂水平变化有关。本研究采用聚合酶链反应和限制性片段长度多态性技术进行。在原发性高甘油三酯血症患者和正常甘油三酯血症患者中测定并比较了多态性的基因型分布和等位基因频率。结果显示，原发性高甘油三酯血症患者的血浆胆固醇酯转运蛋白活性显著高于对照组（p = 0.001）。在本研究中，所有B2B2基因型个体的血浆胆固醇酯转运蛋白活性较低，高密度脂蛋白水平高于B1B1和B1B2基因型，而该基因型的甘油三酯水平显著降低。原发性高甘油三酯血症患者与对照组之间该多态性的基因型和等位基因频率存在显著差异（分别为p = 0.014和p = 0.027）。在两组中，CETP Taq 1B多态性（存在B2等位基因）与HDL-C显著相关（对照组和患者组的r分别为0.207和0.300）以及与CETP活性相关（对照组r = -0.193，患者组r = -0.132）。在所选人群中，胆固醇酯转运蛋白基因的Taq 1B多态性与血脂谱变化和血浆胆固醇酯转运蛋白活性有关。
