ABCA1基因多态性与冠心病相关性研究  

Relationship between the R219K Polymorphism of ATP-Binding Cassette Transporter 1 Gene and Coronary Heart Disease

作　　者：李亚[1] 张思仲[1] 马用信[1] 贺勇[2] 董景涛[1] 孙岩[1] 何国平[1] 张炜[1] 

机构地区：[1]四川大学华西医院医学遗传室及教育部生物治疗重点实验室,成都610041 [2]四川大学华西医院心血管内科,成都610041

出　　处：《遗传》2005年第4期549-552,共4页Hereditas（Beijing)

基　　金：国家863计划(国家高技术研究发展计划项目)(编号:2001AA224021-03)~~

摘　　要：为了探讨ATPBindingCassetteTransporter1(ABCA1)基因R219K多态在中国汉族人群中的分布及其与冠心病(coronaryheartdisease,CHD)的关系,采用PCRRFLP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。结果表明,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)显著增高(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组间无此频率差异显著性(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);不同基因型患者间血浆高密度脂蛋白胆固醇(HDLC)水平差异无显著性(P>0.05)。提示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HDLC水平的改变。To study 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）. Genotypes were determined by PCR-RFLP approach in 417 unrelated healthy controls and 396 CHD patients. 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 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 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. These data suggest that the R219K polymorphism in ABCA 1 gene is correlated with CHD,and the ABCA 1 gene KK genotype may has a function against atherosclerosis without detectable change of plasma HDL-C level in Chinese Han population.

关 键 词：冠心病 ABCAl基因 动脉粥样硬化 

分 类 号：R541.4[医药卫生—心血管疾病]