胆固醇酯转移蛋白基因多态性与血脂的研究

Association of cholesteryl ester transfer protein TaqⅠB polymorphism with blood lipid profile

目的 研究胆固醇酯转移蛋白 (CETP)TaqⅠB基因多态性对血脂水平的影响。方法 应用聚合酶链反应 限制性片段长度多态性测定 186例研究对象为CETPTaqⅠB基因型 ,分析基因型与血脂水平的关系。结果 不同基因型间血清总胆固醇、甘油三酯、低密度脂蛋白胆固醇水平无显著差异 ;B2等位基因携带者 [B1B2 :( 1.33± 0 .36 )mmol L ,B2B2 :( 1.37± 0 .2 4 )mmol L]高密度脂蛋白胆固醇水平均较B1纯合子 [B1B1:( 1.2 0± 0 .33)mmol L]显著增高 ;载脂蛋白A1水平在B1和B2纯合子间差异显著 [( 1138.4 2± 2 2 3.5 7)mg Lvs( 12 76 .70± 14 2 .6 3)mg L],这种差异在男性表现更为明显 ;TaqⅠB基因多态性对CETP浓度无显著影响 ;高密度脂蛋白胆固醇与CETP浓度无显著负相关 ;TaqⅠB基因多态性可以说明 1.9%高密度脂蛋白胆固醇的变化。

Objective To study the TaqⅠB RFLP in the first intron of the cholesteryl ester transfer protein(CETP) gene,blood lipid profile and CETP mass in order to determine their association.Methods CETP genotypes of 186 subjects were analyzed by means of polymerase chain reaction and restricted fragment length polymorphism(RFLP).The levels of blood lipid profile and CETP concentration in different gene types were compared.Results B1 homozygotes(B1B1:1.20±0.33 mmol/L) had lower HDL C levels than B1B2 or B2B2(B1B2:1.33±0.36 mmol/L,B2B2:1.37±0.24 mmol/L)did. B1 homozygotes had lower ApoA1 levels as compared with B2 homozygotes(1138.42±223.57 mg/L vs 1276.70±142.63 mg/L). The difference was especially significant in male subjects. TaqⅠB polymorphism explained 1.9% of the variability in HDL C and was an independent factor influencing HDL C level. There was no significant negative correlation between plasma CETP and HDL C concentration. The association of TaqⅠB polymorphism with plasma CETP levels was not identified in this study. Conclusion CETP TaqⅠB variant was a significant determinant of HDL C.