Angiotensin converting enzyme gene polymorphism and its enzyme activity in serum in young Japanese females

To assess the potential association between the angiotensin converting enzyme (ACE) gene polymorphism and the activity of the renin-angiotensin system in a Japanese population, we determined the ACE genotype and its enzyme activity in serum in 108 young Japanese females. Genomic DNA was extracted from blood samples and amplified by polymerase chain reaction (PCR). PCR primers flanked the polymorphic region in intron 16 of the ACE gene. The distribution of the DD, ID and II ACE genotypes was 10, 55 and 35%, respectively. The estimated allele frequencies of the deletion and the insertion were 0.375 and 0.625, respectively. The mean serum ACE activity in DD subjects was about 1.4 times that of II subjects (p < 0.01), with ID subjects having intermediate levels (p<0.05), whereas the renin profile were not statistically different among the three groups. These results indicate a significant association between ACE gene polymorphism and serum ACE activity levels, suggesting a mechanism by which genotype might have a bearing on the physiology of the renin-angiotensin system axis. (C) 1997 Tohoku University Medical Press.