Ishigami T, Iwamoto T, Tamura K, Yamaguchi S, Iwasawa K, Uchino K, Umemura S, Ishii M
Second Department of Internal Medicine, Yokohama City University, Japan.
Am J Hypertens. 1995 Jan;8(1):95-7. doi: 10.1016/0895-7061(94)00184-D.
A polymorphism of the angiotensin I converting enzyme (ACE) gene has recently been reported and analysis of this polymorphism has indicated that it is associated with several cardiovascular diseases. However, the results are still controversial and such association has not yet been established conclusively. To determine whether the ACE gene may be responsible for essential hypertension in a Japanese population, we also compared the distribution of genotypes and the allele frequency of this polymorphism in our findings of a Japanese population with these features in other countries. Eighty-seven hypertensive patients with a family history of essential hypertension and 95 normotensive patients whose parents had no such history were enrolled in the study. Polymorphism of the ACE gene was determined by using the polymerase chain reaction. Homozygotes for this polymorphism had either a 490-bp band (II) or a 190-bp band (DD) and heterozygotes had both bands (ID). In hypertensive subjects, the numbers and frequency of the ACE genotypes were: II, 44 (0.51); ID, 26 (0.30); DD, 17 (0.19). In normotensive subjects these were: II, 35 (0.37); ID, 43 (0.45); DD, 17 (0.18). There were no significant differences between the two groups in derived allele frequencies (chi 2 = 1.41). The difference between the overall allelic frequency in Japan and that reported in several other countries was significant. We did not find any association between ACE gene polymorphism and essential hypertension in Japan. However, there were significant differences in derived allele frequencies between our findings in a Japanese population and those reported from Europe and Australia.
最近有报道称血管紧张素I转换酶（ACE）基因存在多态性，对这种多态性的分析表明它与多种心血管疾病有关。然而，结果仍存在争议，这种关联尚未最终确定。为了确定ACE基因是否可能是日本人群原发性高血压的病因，我们还比较了日本人群中该多态性的基因型分布和等位基因频率与其他国家具有这些特征人群的情况。87例有原发性高血压家族史的高血压患者和95例父母无此类病史的血压正常患者被纳入研究。采用聚合酶链反应确定ACE基因的多态性。该多态性的纯合子有一条490 bp的条带（II）或一条190 bp的条带（DD），杂合子有两条条带（ID）。高血压患者中，ACE基因型的数量和频率分别为：II型，44例（0.51）；ID型，26例（0.30）；DD型，17例（0.19）。血压正常患者中，这些数据分别为：II型，35例（0.37）；ID型，43例（0.45）；DD型，17例（0.18）。两组的衍生等位基因频率无显著差异（χ2 = 1.41）。日本的总体等位基因频率与其他几个国家报道的频率之间存在显著差异。在日本，我们未发现ACE基因多态性与原发性高血压之间存在任何关联。然而，日本人群的研究结果与欧洲和澳大利亚报道的结果在衍生等位基因频率上存在显著差异。
