血管紧张素转换酶基因插入/缺失多态性与糖尿病视网膜病变相关性研究

Detection of angiotensin converting enzyme gene insertion/deletion polymorphism and its relationship to diabetic retinopathy

目的研究血管紧张素转换酶(ACE)基因插入/缺失(I/D)多态性与糖尿病视网膜病变(DR)的关系。方法在反应体系中加入5%DMSO的改良法检测了145例2型糖尿病患者(合并或不合并有DR)及年龄、性别相匹配的90例正常对照者(NC)的ACE基因I/D多态性。比较各组基因型及等位基因频率分布。结果糖尿病无视网膜病变(NDR)组与正常对照组间ACE基因型及等位基因频率均无显著统计学差异(P>0.05);DR组与正常对照组相比,DD基因型频率显著升高(24.39%10.00%,P<0.05),D等位基因频率也显著升高(46.34%30.56%,P<0.01)。结论DD基因型及D等位基因是DR的遗传易感因子之一。

Objective The methods of Hind Ⅲ and polymerase chain reaction （PCR） detecting the insertion/deletion （I/D） mistype of angiotensin converting enzyme（ACE） gene have been used. However, a lot of studies have showed that the classic Rigat method has a higher mistyping frequency. We modified the detecting method to revaluate the relationship between ACE gene polymorphism and diabetic retinopathy. Methods One hundred and forty-five cases with type 2 diabetes mellitus （DM-2） （with or without diabetic retinopathy） and 90 cases of normal controls were collected in this study. The ACE genotypes of subjects were detected with modified PCR method by adding 5% dimethyl sulphoxide （DMSO）. ACE genotypes and alleles frequencies between diabetic patients and normal controls were compared. Results No significant difference was found in ACE gene frequencies between the diabetic patients without retinopathy and normal control subjects （DD genotype： 12.70% versus 10. 00% , P 〉 0. 05;D allele,33.33% versus 30. 56% ,P 〉 0. 05 ） ;while the frequencies of DD genotype and D allele in patients with diabetic retinopathy were higher than those in normal controls （ 24.39% versus 10. 00% , P 〈 0. 05 ; 46.34% versus 30. 56% ,P 〈 0. 01 ） respectively. Conclusion ACE polymorphism is associated with diabetic retinopathy. DD genotype and D allele of ACE gene is probably one of the genetic marker of diabetic retinopathy.