遗传 ›› 2005, Vol. 27 ›› Issue (4): 549-552.

• 研究报告 • 上一篇    下一篇

ABCA1基因多态性与冠心病相关性研究

李 亚;张思仲; 马用信; 贺 勇;董景涛;孙 岩; 何国平; 张 炜   

  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
  • 收稿日期:2004-09-15 修回日期:2004-10-21 出版日期:2005-08-10 发布日期:2005-08-10
  • 通讯作者: 张思仲

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

LI Ya , ZHANG Si-Zhong1, MA Yong-Xin,HE Yong,DONG Jing-Tao, SUN Yan,HE Guo-Ping, ZHANG Wei   

  1. Department of Medical Genetics , West China Hospital , Sichuan university, and the Key Laboratory of Biotherapy,Ministry of Education,Chengdu 610041 China
  • Received:2004-09-15 Revised:2004-10-21 Online:2005-08-10 Published:2005-08-10

摘要: 为了探讨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,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(HDL-C)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HDL-C水平的改变。

关键词: 动脉粥样硬化, ABCA1基因, 冠心病

Abstract: 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 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.

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