三磷酸腺苷结合盒转运子A1基因多态性R219K与脂代谢及冠心病易感性的相关性  

The Association of ATP Binding Cassette Transporter 1 Gene R219K Common Variant with Lipid Metabolism And the Risk of Coronary Atherosclerotic Heart Disease

作　　者：孙屏[1] 李晓宇[1] 郭冬平[1] 陈琪[1] 范乐明[1] 

机构地区：[1]南京医科大学动脉硬化研究中心,江苏省南京市210029

出　　处：《中国动脉硬化杂志》2005年第1期13-16,共4页Chinese Journal of Arteriosclerosis

基　　金：江苏省卫生厅科技基金会重大科研课题 (H2 0 0 2 18)

摘　　要：目的　探讨三磷酸腺苷结合盒转运子A1基因R2 19K单核苷酸多态性位点与脂代谢和冠状动脉粥样硬化性心脏病易感性的关系。方法　采用聚合酶链反应—限制片长多态性方法检测 133名正常人和 4 9名家族性高胆固醇血症患者三磷酸腺苷结合盒转运子A1基因相应片段的多态性。结果　家族性高胆固醇血症患者组三磷酸腺苷结合盒转运子A12 19K等位基因频率显著低于正常人群 (P =0 .0 0 0 1)。家族性高胆固醇血症患者组中 ,K等位基因携带者组 (RK基因型 +KK基因型组 )与RR基因型组比较 ,甘油三酯水平明显降低 (1.14± 0 .5 5mmol/L比 1.76± 0 .5 8mmol/L ,P =0 .0 0 1) ,高密度脂蛋白胆固醇水平有增高趋势 (1.39± 0 .5 4mmol/L比 1.2 1± 0 .32mmol/L ,P =0 .0 6 1)。结论　三磷酸腺苷结合盒转运子A1基因R2 19K多态性中 ,2 19K等位基因与家族性高胆固醇血症患者甘油三酯水平降低和高密度脂蛋白胆固醇水平增高相关联 。Aim To examine the distribution of R219K polymorphism of ATP binding cassette transporter 1(ABCA1) gene in Chinese population and to investigate the association of the SNP with lipid metabolism and the susceptibility to coronary atherosclerotic heart disease. Methods The target fragments of ATP binding cassette transporter 1 gene was amplified and analyzed by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) technique in 133 unrelated normal control individuals and 49 familial hypercholesterolemia(FH) patients. The statistical analysis was implemented in statistical package SPSS. Results The observed allele frequencies were in accord with Hardy-Weinberg equilibrium. The frequency of ATP binding cassette transporter 1 219K allele was significantly higher in controls than that in FH patients (P=0.0001). Compared with the FH patients without 219K, the FH patients with 219K exhibited a significant decrease in plasma triglyceride concentration (1.14±0.55 mmol/L vs 1.76±0.58 mmol/L, P=0.001), and a trend of increase in plasma high density lipoprotein cholesterol concentration (1.39±0.54 mmol/L vs 1.21±0.32 mmol/L, P=0.061). Conclusions 219K polymorphism of ABCA1 gene was associated with higher high density lipoprotein cholesterol level and lower triglyceride level in FH patients and exert protective role for premature CHD in FH patients.

关 键 词：病理学与病理生理学 三磷酸腺苷结合盒转运子A1 R219K与冠心病易感性相关联 聚合酶链反应—限制片长多态性 单核苷酸多态性 脂代谢 冠心病易感性 家族性高胆固醇血症 

分 类 号：R363[医药卫生—病理学]