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ABCA1基因多态性与冠心病相关性研究
引用本文:李亚,张思仲,马用信,贺勇,董景涛,孙岩,何国平,张炜.ABCA1基因多态性与冠心病相关性研究[J].遗传,2005,27(4):549-552.
作者姓名:李亚  张思仲  马用信  贺勇  董景涛  孙岩  何国平  张炜
作者单位: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
基金项目:国家高技术研究发展计划(863计划)
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  
文章编号:0253-9772(2005)04-0549-04
收稿时间:2004-09-15
修稿时间:2004年9月15日

Relationship between the R219K Polymorphism of ATP-Binding Cassette Transporter 1 Gene and Coronary Heart Disease
LI Ya,ZHANG Si-Zhong,MA Yong-Xin,HE Yong,DONG Jing-Tao,SUN Yan,HE Guo-ping,ZHANG Wei.Relationship between the R219K Polymorphism of ATP-Binding Cassette Transporter 1 Gene and Coronary Heart Disease[J].Hereditas,2005,27(4):549-552.
Authors:LI Ya  ZHANG Si-Zhong  MA Yong-Xin  HE Yong  DONG Jing-Tao  SUN Yan  HE Guo-ping  ZHANG Wei
Institution:Department of Medical Genetics , West China Hospital , Sichuan university, and the Key Laboratory of Biotherapy,Ministry of Education,Chengdu 610041 China
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.
Keywords:coronary heart disease  ATP-Binding Cassette Transporter 1 gene  atherosclerosis
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