ACE基因多态性,血清水平与2型糖尿病,2型糖尿病半高血压的关系

The relationship between the gene polymorphism, the serum activities of angiotensin-I converting enzyme and type 2 diabetes, type2 diabetes with hypertension

目的 我们在一组１１６例糖尿病及糖尿病伴高血压的重庆地区汉族人中研究血管紧张素转换酶（Ａｎｇｉｏｔｅｎｓｉｎ－ＩＣｏｎｖｅｒｔｉｎｇ Ｅｎｚｙｍｅ，ＡＣＥ）基因内含子插入／缺失（Ｉ／Ｄ）多态性，ＡＣＥ血清水平及其与糖尿病及糖尿病伴高血压的关系。方法用ＰＣＲ扩增ＡＣＥ基因第１６内含子Ｉ／Ｄ片段，用电泳法确定其多态性；用分光光度法测定血清ＡＣＥ的活性。结果 糖尿病伴高血压组Ｄ等位基因的频率分别为０．６３、糖尿病组０．５１、健康对照组０．４８。糖尿病伴高血压组Ｄ等位基因的频率明显高于糖尿病组和健康对照组（Ｐ＜０．０５和Ｐ＜０．０２５）。糖尿病组和健康对照组的Ｄ等位基因频率无明显差异（Ｐ＞０．０５）。ＤＤ基因型的血ＡＣＥ水平高下ＤＩ基因型和ＩＩ基因型，在三种基因型之间具有非常明显的差异（Ｐ＝１２１．７３，Ｐ＜０．０１）。糖尿病伴高血压组、糖尿病组和健康对照组之间的血清ＡＣＥ活性，也有非常显著性差异（Ｐ＝３２．５７，Ｐ＜０．０１）。结论 ＡＣＥ活性与ＡＣＥ基因第１６内含子Ｄ等位基因的频率；高的血压和高的血清ＡＣＥ活性有关。ＡＣＥ的Ｄ等位基因可能是导致血清高ＡＣＥ活性和高血压因素之一。

Objective We investigated the serum activities of ACE and the insertion/deletion(I/D)polymorphism of ACE gene in 116 Han diabetics with or without hypertension. Methods I/D of the allele was amplificated by PCR, analyzed by electrophorysis; serum ACE activities were determined by spectrophotometry. Results Frequen cies of D allele were 0.63 in diabetic group with hypertension, 0.51 in diabetic group, and 0.48 in control. The frequency of D allele in diabetic group with hypertension was significantly higher than those of the two other groups(P<0.05 and P<0.025). The frequencies of D allele between diabetic and control groups were not different significantly(P>0.05). The serum activities with DD genotype were higher than those of both DI and II genotype of ACE .Among the three genotypes the serum activities of ACE were different significantly(P=121.73, P<0.01). It was also the case with the three groups the serum activities of ACE also were significantly different (P=32.57, P< 0.01). Conclusion In the three groups, the high serum activities of ACE were related to the deletion in the 16th intron of ACE gene. The higher activities of ACE, the higher blood pressure. Deletion of the 16 intron of ACE gene was probably one of the factors which caused high serum activities of ACE and hypertension.