2型糖尿病视网膜病变与β3-肾上腺素能受体基因多态性关系的初步研究

目的研究β3-肾上腺素能受体（β3-AR）基因Trp64Arg突变在2型糖尿病视网膜病变（DR）中作用。方法42例2型糖尿病患者，无视网膜病变组14例、背景性视网膜病变组14例、增值性视网膜病变组14例。采用PCR—PELF法检测β3-AR基因Trp64Arg错义突变；同时检测体重指数（BMI）、血压、空腹血糖、血脂、糖化血红蛋白A1c（HBA1c）等指标。结果42例中国北方地区2型糖尿病患者Arg64等位基因频率为0．12。突变频率在视网膜病变组与非视网膜病变组；背景性视网膜病变组与增殖性视网膜病变组间的差异无显著性（P〉0．05）；2型糖尿病患者Arg携带组BMI、血甘油三酯水平高于非携带组（P〈0．05）。结论β3-AR基因Trp64Arg突变与2型糖尿病病人血脂异常分布及脂代谢紊乱有关，但与DR及其严重程度无关联，β3-AR基因可能不是2型糖尿病视网膜病变的风险基因。

Initial Research of Relationship between Type II Diabetic Retinopathy and Gene Polymorphism

Objective To research the role of the mutation in gene Trp64Arg located in β3-AR in type 2 diabetic retinopathy.Methods The 42 patients with tppe 2 diabetes were divides into three groups,the group of non-retinopathy,background retinopathy and increased retinopathy,each one contained 14 patients.The missense mutation of gene Trp64Arg located in β3AR had been detected using PCR-PELF.The BMI、BP、BFS、blood-fat and HBA1c had been detected at the same time.Results The Arg64 allele frequency of the 42 patients who had type 2 diabetes and lived in the north of China was 0.12.The mutation frequency had not significance difference between the retinopathy group and non-retinopathy group.It also had not significance difference between the background retinopathy group and proliferative retinopathy group(P>0.05);The BMI、blood-fat level of the group of Arg carrier with tppe 2 diabetes was higher than the group of non-Arg carrier(P<0.05).Conclusion The mutation in gene Trp64Arg located in β3-AR was concerned with the body fat abnormality and lipid metabolism disorder of patients with tppe 2 diabetes,but was not concerned with the Severity degree.Gene β3-AR may not be the risk gene of the type 2 diabetic retinopathy.