国人载脂蛋白A1基因多态性与血脂水平及冠心病的关系

为探讨载脂蛋白A1基因 - 75bp +83bp位点多态性与血脂水平及冠心病发生之间的关系 ,采用生物化学方法分别测量经冠状动脉造影证实的 92例冠心病患者及 4 5例正常人空腹血脂水平 ,应用聚合酶链反应对载脂蛋白A1基因DNA 4 33bp的 5’末端片段进行限制性片段长度多态性分析。结果发现 ,冠心病组甘油三酯、总胆固醇、低密度脂蛋白、载脂蛋白B及脂蛋白 (a)水平均高于对照组 (均P <0 .0 5 ) ,而高密度脂蛋白 (P <0 .0 0 5 )与载脂蛋白A1 (P <0 .0 5 )水平则低于对照组 ;冠心病组较对照组M1 -及M2 -基因型频率明显为低 (P <0 .0 0 5 ,P <0 .0 5 ) ;与M1 + +相比 ,M1 +- - -者血中高密度脂蛋白及载脂蛋白A1水平分别升高 1 8.0 9%和 1 5 .6 8% ,而M2 +- - -者血中高密度脂蛋白及载脂蛋白A1水平较M2 + +分别升高 6 .1 9%和 8.6 5 %。以上结果表明 ,载脂蛋白A1基因- 75bp位点G被A取代及 +83bp位点C被T取代或G被A取代后个体血载脂蛋白A1及高密度脂蛋白水平升高 ;这些碱基变化可能会导致个体发生冠心病的危险性降低

Studies on Relationships among Apolipoprotein A1 Gene Polymorphisms, Lipid Levels and Coronary Atherosclerosis Disease

Aim To investigate the relationships between -75 bp / +83 bp polymorphism in apolipoprotein(apo)A1 gene, lipids levels and the occurrence of coronary atherosclerosis disease(CAD). Methods The distributions of two MspI polymorphisms of the apo A1 gene, -75 bp and +83 bp, and blood lipids levels were determined among 137 Chinese patients in relation to circulating lipids and coronary angiography. Results The control group had higher M 1-/M 2- frequencies than the coronary atherosclerosis disease group (M 1: P<0.005; M 2: P<0.05) and the M 1- and M 2- alleles were associated with increased high density lipoprotein (M 1-: P<0.0001; M 2-: P<0.05) and apo A1 (M 1-: P<0.0001; M 2-: P<0.05) levels. M 1- and M 2- were significantly correlated with CAD (P<0.01 and P<0.05, respectively). Conclusions The results suggest that the base changes from G to A at the -75 bp site and C to T/G to A at the +83 bp site do have increased circulating levels of apo A1 and high density lipoprotein and that individuals with these base changes are likely to have a reduced risk of developing CAD.