目的研究云南昆明地区汉族2型糖尿病患者维生素D受体基因TaqⅠ(rs731236)、ApaⅠ(rs7975232)与2型糖尿病肾病(DN)发病的相关性。方法运用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,对昆明汉族108例DN及180例糖尿病不伴肾病(NDN)患者的维生素D受体(VDR)基因TaqⅠ、ApaⅠ基因多态性进行检测,分析并比较其临床资料、基因型频率、等位基因频率等。结果 NDN患者TaqⅠ位点的基因型频率分别为T/T88.89%、T/t+t/t 11.11%,等位基因频率分别为T 93.33%、t 6.67%,DN患者TaqⅠ位点的基因型频率分别为T/T94.44%、T/t+t/t 5.6%,等位基因频率分别为T 97.22%、t 2.78%;NDN患者ApaⅠ位点的基因型频率分别为a/a45.60%、A/A+A/a 54.40%,等位基因频率分别为A 32.22%、a 67.78%,DN患者ApaⅠ位点的基因型频率分别a/a51.85%、A/A+A/a 48.15%,等位基因频率分别为A 25.00%、a 75.00%。两组患者ApaⅠ、TaqⅠ位点的基因型频率及等位基因频率比较,差异均无统计学意义(P〉0.05)。2ApaⅠ位点的aa和Aa基因型是DN发生的危险因素(OR=6.313、5.525,P=0.018、0.034)。结论 aa和Aa基因型是DN发生的危险因素。
Objective To investigate the relationship between TaqⅠ(rs731236), ApaⅠ(rs7975232) and type 2 diabetic nephropathy of the Han Nationality in Yunnan area of Kunming. Methods PCR-RFLP technique was used to detected TaqⅠ, ApaⅠ of Vitamin D receptor gene polymorphism in 108 patients with diabetic nephropathy and 180 patients without nephropathy. The clinical data, genotype frequencies, allele frequencies were analyzed and compared.Results 1Genotype frequency of Taq Ⅰ loci in NDN patients were T/T 88.89% and T/t+t/t 11.11%, allele frequency were T 93.33% and t 6.67%, respectively, genotype frequency of Taq Ⅰ loci in DN patients were T/T 94.44% and T/t+t/t 5.6%, allele frequency were T 97.22% and t 2.78%, respectively; genotype frequency of Apa Ⅰ loci in NDN patients were a/a 45.60%, A/A+A/a 54.40%, allele frequency were A 32.22% and a 67.78%, respectively,, genotype frequency of Apa Ⅰ loci loci in DN patients were a/a 51.85% and A/A+A/a 48.15%, allele frequency were A 25.00% and a 75.00%, respectively. Comparison between two groups of patients with Apa Ⅰ, Taq Ⅰ loci of genotype frequency and allele frequency, there were no statistically significant difference(all P〉0.05). 2aa and Aa genotype in ApaⅠ were risk factors of DN(OR=6.313, 5.525; P=0.018, 0.034). Conclusion aa and Aa genotypes are risk factors of DN.