ATP结合盒转运体A1基因R219K多态及冠心病相关性探究.docVIP

ATP结合盒转运体A1基因R219K多态及冠心病相关性探究 　 作者：王玉明　李亚　郑人源　潘克俭 【摘要】 　　目的 探讨ATP-Binding Cassette Transporter 1（ABCA1）基因R219K多态在中国汉族人群中的分布及其与冠心病（coronary heart disease，CHD）的关系。方法 采用PCR-RFLP方法，对396例CHD患者和417名正常人ABCA1基因R219K多态位点进行分析。结果 对照组R219K多态K等位基因及KK基因型的频率（0.465、0.228）较CHD组（0.381、0.162）显著为高（P＜0.05）；根据发病年龄分组，早发CHD组K等位基因及KK基因型频率（0.34、0.111）明显低于晚发CHD组（0.419、0.205）和对照组（P＜0.05），而在对照组和晚发CHD组间此频率差异无显著性（P＞0.05）；KK基因型患者血浆甘油三酯（TG）水平较RR基因型显著降低（P＜0.05）；不同基因型患者血浆高密度脂蛋白胆固醇（HDL-C）水平差异无显著性（P＞0.05）。结论 ABCA1基因R219K多态与CHD存在相关性；KK基因型可能具有对抗动脉粥样硬化的作用，但这种作用不伴有血浆HDL-C水平的改变。 【关键词】 冠心病；ABCA1基因；动脉粥样硬化 Abstract：Objective To investigate the distribution of R219K polymorphism in ATP-Binding Cassette Transporter 1（ABCA1）gene in Chinese Han population and the association of this polymorphism with coronary heart disease（CHD）.Methods Genotypes were determined by PCR-RFLP method in 417 unrelated healthy controls and 396 CHD patients.Results The frequencies of K allele and KK genotype for controls（0.465、0.228）were significantly higher than those（0.381、0.162）for patients（P＜0.05）.When the patients were divided into two subgroups by onset-age,the frequencies of K allele and KK genotype for early-onset patients（0.34、0.111）were significantly lower than those(0.419、0.205) for late-onset patients and those for controls（P＜0.05）,while there were no such differences between late-onset patients and controls.Patients with RR genotype had a significantly higher plasma concentration of triglycerides（TG）when compared with that of KK genotype（P＜0.05）.No significant differences of plasma high-density lipoprotein cholesterol（HDL-C）level were observed among patients with different genotypes.Conclusion These data suggest that the R219K polymorphism in ABCA1 gene is correlated with CHD，and the ABCA1 gene KK genotype may has a function against atherosclerosis without detectable change of plasma HDL-C level in Chinese Han population. Key words:coronary heart disease；ATP-Binding Cassette Transporter 1 gene；atherosclerosis 　 研究表明，血浆中高密