Mastana S, Nunn J
Human Genetics Laboratory, Department of Human Sciences, Loughborough University, UK.
Hum Hered. 1997 Sep-Oct;47(5):250-3. doi: 10.1159/000154420.
The deletion polymorphism, situated in intron 16, of angiotensin-converting enzyme (ACE) gene (17q23) has been observed to be associated with an increased risk for myocardial infarction and left ventricular hypertrophy in Caucasian populations. The homozygous genotype for the deletion allele (DD) has additionally been observed at greater frequencies in hypertensive individuals of African-American and Japanese origin. In a population-based study of a Sikh population, we compared the occurrence of the insertion/deletion polymorphism at the ACE gene in subjects with hypertension to those with normal blood pressure. The ACE deletion allele was observed with a greater frequency in hypertensive subjects than in the normotensive subjects (p < 0.0001). These findings raise the possibility that in some ethnic subgroups, variation in or near the ACE gene may contribute to the development, and severity, of hypertension.
血管紧张素转换酶（ACE）基因（17q23）位于第16内含子的缺失多态性，已被观察到与高加索人群中心肌梗死和左心室肥厚风险增加相关。此外，在非裔美国人和日本裔高血压个体中，缺失等位基因的纯合基因型（DD）出现频率更高。在一项基于锡克教人群的研究中，我们比较了高血压患者与血压正常者ACE基因插入/缺失多态性的发生情况。高血压患者中ACE缺失等位基因的出现频率高于血压正常者（p < 0.0001）。这些发现提示，在某些种族亚组中，ACE基因内部或附近的变异可能导致高血压的发生及其严重程度。
