Kay A, März W, Hoffmann M M, Zhang Q, Masana L l, Cavanna J, Baroni M G, Shine B, Galton D J
Department of Human Genetics, St. Bart's and the London, School of Medicine and Dentistry, UK.
Atheroscler Suppl. 2002 May;3(1):27-33. doi: 10.1016/s1567-5688(01)00003-4.
Fifteen polymorphisms in six lipid transport genes were studied in a German population for relationships with dyslipidemia and coronary artery disease (CAD), to investigate a possible genetic basis for the marked differences in mortality rates from coronary heart disease within Europe. In other populations these polymorphisms have all been associated with CAD or with phenotypes known to predispose to CAD. The apoAI PstI polymorphism (P<0.005) and the lipoprotein lipase Ser(447)-Ter mutation (P<0.005) were associated with plasma triglyceride concentrations. Additionally, the apoAI PstI polymorphism (P<0.05), the apoB XbaI polymorphism (P<0.05) and apoE phenotypes (P<0.05) were associated with plasma cholesterol concentrations. However, none of the allele frequencies of the polymorphisms studied were related to the presence, or absence, of coronary artery disease. Associations between five polymorphisms representing four lipid transport gene loci and dyslipidemia were demonstrated in this German population. It is possible that predisposition to dyslipidemia in Germany involves a particular selection of polymorphic loci, which are different from those identified in other European countries.
在德国人群中研究了六个脂质转运基因中的15个多态性，以探讨其与血脂异常和冠状动脉疾病（CAD）的关系，从而研究欧洲冠心病死亡率存在显著差异的可能遗传基础。在其他人群中，这些多态性均与CAD或已知易患CAD的表型相关。载脂蛋白AI（apoAI）PstI多态性（P<0.005）和脂蛋白脂肪酶Ser(447)-Ter突变（P<0.005）与血浆甘油三酯浓度相关。此外，apoAI PstI多态性（P<0.05）、载脂蛋白B（apoB）XbaI多态性（P<0.05）和载脂蛋白E（apoE）表型（P<0.05）与血浆胆固醇浓度相关。然而，所研究多态性的等位基因频率均与冠状动脉疾病的有无无关。在该德国人群中证实了代表四个脂质转运基因位点的五个多态性与血脂异常之间的关联。德国人群易患血脂异常可能涉及特定的多态性位点选择，这些位点与其他欧洲国家所确定的不同。
