ABCA1基因启动子区域VNTR-ZNF位点多态性及与血浆HDL水平的关系

摘要

目的:探讨腺苷三磷酸结合盒转运体AI(ABCAI)基因启动子区域VNTR-ZNF位点多态性的分布频率及其与血浆高密度脂蛋白(HDL)水平的关系.方法:随机抽取166例冠心病患者和99例健康对照者,采用PCR扩增法和聚丙烯酰胺凝胶电泳对VNTR-ZNF位点ACCCC插入和缺失进行检测.结果:被检总人群ABCA1基因VNTR-ZNF位点等位基因频率分别为插人型为31.3%(166/530),缺失型68.7%(364/530);基因型频率分别为插入型6.4%(17/265),缺失型43.8%(116/265).插入/缺失型49.8%(132/265),2组间基因型频率和等位基因频率比较差异无统计学意义,血浆HDL及HDL亚组水平在3种基因型间差异亦无统计学意义(P>0.05).结论:天津地区ABCA1基因的VNTR-ZNF位点基因型分布与欧洲地区不同,此基因变异对血浆HDL水平无明显影响.%Objective: To investigate the frequency distribution of VNTR-ZNF polymorphism in ATP-binding cassette transponer 1(ABCA1) promoter region and the association with the plasma level of high-density lipoprotein (HDL). Methods:A total of 265 subjects were recruited, including166 patients with coronary heart disease (CHD) and 99 healthy control subjects. The corresponding DNA fragments were amplified with PCR and the genotypes were separated by polyacrylamide gel electrophoresis, detecting the insertion/deletion of ACCCC in VNTR-ZNF. Results: The allele frequencies of inserted form and deleted form of VNTR-ZNF were 31.3％ (166/530) and 68.7％ (364/530). The genotypic frequencies of VNTR-ZNF were 6.4％ (17/265) for the inserted form, 43.8％ (116/265) for the deleted form and 49.8％ (132/265) for the inserted/deleted form.There were no significant differences in the frequency distribution of allele and genotype between CHD and control groups (P ＞ 0.05). Also there were no significant differences in levels of HDL and three different genotypes of HDL hetween two groups (P ＞ 0.05). Conclusion: The frequency of deleted form of VNTR-ZNF in ABCA1 in Tianjin district was markedly higher than that in European area, but the variation of ABCA1 VNTR-ZNF was not associated with the plasma level of HDL.