ABCA1启动子区基因多态性与血脂水平及冠心病的关系  

Association of Polymorphism in the ATP-Binding Cassette Transporter 1 Gene with Cardiovascular Disease and Plasma Lipids

作　　者：程爱娟[1] 毛用敏[1] 崔让庄[1] 吴尚勤[1] 孙姗[1] 

机构地区：[1]天津市胸科医院心内科,300051

出　　处：《天津医药》2011年第8期701-703,共3页Tianjin Medical Journal

摘　　要：目的:探讨腺苷三磷酸结合盒转运子A1(ABCA1)基因启动子-14bp单核苷酸多态性(SNP)位点与冠心病发生及血脂水平的关系。方法:采用病例对照研究,聚合酶链反应(PCR)-限制性片段长度多态性方法,将228例经冠状动脉造影确诊的冠心病患者设为冠心病组,同一地区造影排除冠心病者200例设为对照组,PCR法检测ABCA1基因-14bp位点SNP并进行分析,酶法测定血总胆固醇(TC)和三酰甘油(TG),直接一步法测定血脂蛋白水平。结果:ABCA1基因-14bp位点多态性有CC、CT和TT型。全部检测人群中CC型占42.99%,CT型占51.64%,TT型占5.37%。冠心病组与对照组中CC、CT、TT共3种基因型频率差异无统计学意义(χ2=6.130,P>0.05);2组间等位基因频率差异亦无统计学意义(χ2=0.005,P>0.05);T等位基因携带者HDL-C水平低于非携带者(t=3.416,P<0.05)。结论:AB-CA1基因-14bp位点多态性在有无冠心病患者中无差异,T等位基因携带者血浆HDL-C水平降低。Objective：To investigate the frequency of variant at-14 bp sites of ATP binding cassette transporter A1（ABCA1）gene and its relation to coronary heart diseases and the serum lipid levels in Chinese population.Methods：The restriction fragment polymorphisms（RFLP） at Bme13901 sites at-14 bp of ABCA1 gene were detected using PCR in 228 patients with coronary heart disease and 200 healthy subjects from the population of Tianjin.The serum levels of total cholesterol（TC） and trigalloyl glycerol（TG）were detected by enzymic method.Results：The CC（42.99%）,CT（51.64%） and TT（5.37%） genotypes in ABCA1-14 bp polymorphism were detected,but no differences were found in two groups（χ2 = 6.130,P 0.05）.No differences were found in the frequencies of rare T allele for-14 bp（χ2 = 0.005,P 0.05）.In-14 bp site,subjects with CT/TT genotype had a lower mean serum concentration of HDL-C compared with that of subjects of the genotype CC（t = 3.416,P 0.05）.Conclusion：The HDL-C levels of T allele carriers were significantly lower.However,there was no significant association between the ABCA1-14 bp polymorphism and the susceptibility to coronary heart diseases.

关 键 词：ATP结合匣式转运子 多态性 单核苷酸 基因 基因型 基因频率 冠心病 脂类 

分 类 号：R543.5[医药卫生—心血管疾病]