Hong S H, Kang B Y, Park W H, Kim J Q, Lee C C
Department of Molecular Biology, Seoul National University, Korea.
Clin Genet. 1997 Jan;51(1):35-8. doi: 10.1111/j.1399-0004.1997.tb02411.x.
In view of the clinical importance of angiotensin-converting enzyme (ACE) as a major marker for cardiovascular diseases, we investigated insertion/deletion (I/D) polymorphism of the ACE gene in Koreans. Genotype frequencies were examined by polymerase chain reaction in 171 patients with coronary artery disease (CAD) and 120 healthy subjects. Allele frequencies of ACE polymorphism in Koreans were not significantly different between patient and control groups. In addition, association between ACE genotypes and the number of stenosed coronary arteries was not detected. ACE genotypes in the CAD group were not associated with body mass index and plasma lipid levels. Thus, our results suggest that, at least in Koreans, I/D polymorphism of the gene is unlikely to be a useful marker for CAD subjects. However, the I allele frequency of Koreans (0.58) was higher than that of Caucasian populations (0.47) but lower than that of Samoan (0.91) and Yanomami (0.85) populations. Here, we discuss the clinical and ethnic importance of ACE polymorphism.
鉴于血管紧张素转换酶(ACE)作为心血管疾病主要标志物的临床重要性,我们对韩国人群中ACE基因的插入/缺失(I/D)多态性进行了研究。通过聚合酶链反应检测了171例冠心病(CAD)患者和120名健康受试者的基因型频率。韩国人群中ACE多态性的等位基因频率在患者组和对照组之间无显著差异。此外,未检测到ACE基因型与冠状动脉狭窄数量之间的关联。CAD组中的ACE基因型与体重指数和血脂水平无关。因此,我们的结果表明,至少在韩国人群中,该基因的I/D多态性不太可能是CAD患者的有用标志物。然而,韩国人群的I等位基因频率(0.58)高于白种人群(0.47),但低于萨摩亚人群(0.91)和亚诺马米人群(0.85)。在此,我们讨论了ACE多态性的临床和种族重要性。