【摘要】 目的 探讨ATP-Binding Cassette Transporter 1(ABCA1)基因C69T多态与汉族冠心病（CHD）的关系。方法 以264例CHD患者和278名性别、年龄匹配的正常人为对象进行病例-对照研究；采用PCR-RFLP技术对ABCA1基因C69T多态位点进行分析。结果 ABCA1基因C69T多态在CHD组与对照组分布差异无统计学意义（P＞0.05）;CC基因型和T等位基因携带者患者间各项血脂水平及心血管事件发生率比较差异均无统计学意义。结论 ABCA1基因C69T多态性与汉族人群CHD不存在关联。
【关键词】 冠心病；ABCA1基因；动脉粥样硬化；单核苷酸多态性
Abstract：Objective To investigate the relationship between ATP-Binding Cassette Transporter 1(ABCA1)gene C69T polymorphism and coronary heart disease in the Han people.Methods 264 CHD patients and 278 age，sex-matched control subjects were enrolled in this Case-control study for analysis of C69T polymorphism in ABCA1 gene by PCR-RFLP method.Results The distributions of ABCA1 allelic and genotypic frequencies did not significantly differ between CHD patients and controls;No significant differences of both coronary events and plasma lipid levels were observed between patients with CC genotype and that with T allele.Conclusion The C69T polymorphism in ABCA1 gene is not correlated with CHD in the Han peope.
Key words:coronary heart disease；ATP-Binding Cassette Transporter 1 gene；atherosclerosis；single nucleotide polymorphism
收稿日期 ２００６－０３－２４ 修回日期 ２００６－０４－０５
作者简介 王玉明(１９５８－ ），河南郑州人，副教授，医学硕士。
通讯作者 研究表明，血浆中高密度脂蛋白（HDL）水平与动脉粥样硬化的发生呈负相关［1］。ABCA1基因编码一种跨膜蛋白，该蛋白参与调控胆固醇的细胞流出过程，从而在胆固醇逆向转运和HDL生成的起始阶段发挥关键的作用［2］。文献报道，ABCA1基因突变导致细胞内胆固醇流出减少，血浆中高密度脂蛋白胆固醇（HDL-C）严重缺乏，早发CHD的风险增高［3、4］。此外，ABCA1基因的某些单核苷酸多态也
