血管紧张素转换酶基因rs1799752位点插入或缺失多态性与糖尿病视网膜病变的相关性研究

Relationship of angiotensin converting enzyme gene polymorphism with diabetic retinopathy

目的探讨血管紧张素转换酶（ACE）基因rs1799752位点插入或缺失（1／D）多态性与糖尿病视网膜病变（DR）的相关性。方法病例对照研究。选择2型糖尿病患者412例，其中DR组207例，糖尿病无视网膜病变（DWR）组205例；DR组中筛选出增生性DR（PDR）患者53例，作为PDR组；收集同源非糖尿病志愿者97例作为对照人群。采用PCR和琼脂糖凝胶电泳技术检测ACE基因rs1799752位点1／D多态性基因型。组间基因型及等位基因频率比较采用χ2检验。符合正态分布的连续变量组间比较采用t检验或方差分析，不符合正态分布的连续变量组间比较采用秩和检验。对疾病发生相关因素进行logistic回归分析。结果ACE基因rs1799752位点的I和D等位基因频率：DR组分别为54．1％和45．9％，PDR组分别为52．8％和47．2％，DWR组分别为48．0％和52．0％；DR组与DWR组、PDR组与DWR组的等位基因频率比较，差异均无统计学意义（χ2=3．02，0．77；P〉0．05）。I／D基因型分布：DR组分别为Ⅱ25．1％，ID58．O％，DD16．9％；DWR组分别为Ⅱ22．0％，ID52．2％，DD25．9％，PDR组分别为Ⅱ20．7％，ID64．2％，DD15．1％；DR组与DWR组和PDR组的I／D基因型分布差异均无统计学意义（χ2=4．92，3．19；P〉0．05）。糖尿病组与非糖尿病组之间的I和D等位基因频率及I／D基因型分布差异均无统计学意义（χ2=0．25，4．98；P〉0．05）。在多因素回归分析模型中，纳入患者确诊糖尿病时的年龄、尿微量白蛋白定量检测结果、胰岛素应用情况，肌酐、糖化血红蛋白、血糖检测结果，ACE抑制剂使用情况等作为变量进行分析，显示I／D位点基因多态性与DR（OR=0．80，95％CI：0．59-1．09）和PDR（OR=1．23，95％CI：0．78-1．93）发病无相关性。结论ACE基因I／D多态性与2型糖尿病患者DR的发病无明显相关性。

Objective To investigate the association between angiotensin converting enzyme （ACE） gene locus rs1799752 insertion/deletion （ I/D ） polymorphism and diabetic retinopathy （DR） in type 2 diabetes mellitus. Methods Case-control study. Type 2 diabetes patients were recruited and assigned into DR group, which included proliferative diabetic retinopathy （PDR） group or diabetes without retinopathy （DWR） group. Volunteers without diabetes from the same community were recruited as the control group. PCR and agarosc gel electrophoresis methods were adopted to determine the rs1799752 I/D polymorphism genotypes of the ACE gene. The frequency of genotypes and alleles was compared among the various groups. Results Four hundred and twelve diabetes patients： （207 subjects of DR, including 53 subjects of PDR and 205 subjects of DWR） and 97 non-diabetic control subjects were included in the study.The frequencies of the I and D alleles of ACE rs1799752 polymorphism were 54. 1% and 45.9%, respectively, in the DR group, 52. 8% and 47. 2% in the PDR group, and 48. 0% and 52.0% in the DWR group. There were no statistical differences between DR and DWR groups （χ2 = 3.02, P 〉 0. 05 ） or between PDR and DWR groups （ χ2 = 0. 77, P 〉 0. 05 ）. Moreover, there were no statistical differences in the distribution of the ACE genotypes between DR group （Ⅱ 25. 1%, ID 58.0%, DD 16. 9% ） and DWR group （Ⅱ 22. 0%, ID 52. 2%, DD 25.9% ） （χ2 =4. 92, P 〉0. 05） or between PDR group （Ⅱ 20. 7%, ID 64. 2% , DD 15.1% ） and DWR group （χ2 =3.19, P〉0. 05）. No statistical differences were found in the frequencies of the I and D alleles, and the distributions of I/D genotypes between diabetic group and the control group （ χ2 = 0. 25,4. 98 ;P 〉 0.05 ）. In the multiple regressions model including clinical factors such as the age of onset of diabetes, urinary albumin, insulin usage, ereatinine, glycated hemoglobin, fast glucose, and the use of ACE inhibitor, no association was found between ACE gene polymorphism and DR （0R=0.80,95%CI：0.59-1,09） orPDR（OR=1.23,95%CI：0. 78 -1.93）. Conclusion There is no association between ACE rs1799752 gene insertion/deletion （I/D） polymorphism and DR in patients with type 2 diabetes mellitus.