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维生素D受体基因ApaⅠ、BsmⅠ位点单核苷酸多态性与2型糖尿病肾病的相关性
作者姓名:向茜  李万碧  张弦  刘华  王玉明  杨才  白云霞
作者单位:1. 昆明医科大学第五附属医院内分泌科
基金项目:基金: 云南省科技厅-昆明医科大学应用基础研究联合专项基金资助项目 (2012FB085); 云南省教育厅科学研究基金资助项目 (2012C020);
摘    要:目的 探讨VDR基因多态性与2型糖尿病肾病的相关性.方法 应用TaqMan荧光探针技术, 对235例2型糖尿病患者其中正常白蛋白尿 (DKD0) 组82例, 微量白蛋白组 (DKD1) 组66例, 大量白蛋白尿组 (DKD2) 组87例和86例健康对照者 (NGT) 组的VDR基因BsmⅠ、ApaⅠ位点SNP进行检测, 比较和分析各组间基因型频率和等位基因频率以及相关临床资料.结果 (1) BsmⅠ位点GG、GA、AA基因型频率分别为0.931、0.066、0.003, 等位基因G和A频率分别为0.964、0.036;ApaⅠ位点CC、CA、AA因型频率分别0.536、0.371、0.093, 等位基因C和A频率分别为0.721、0.279; (2) DKD2组ApaⅠ位点C等位基因频率 (0.770) 高于DKD0组患者 (0.671) , A等位基因频率 (0.230) 低于于DKD0组患者 (0.329) , P<0.05; (3) Logistic回归分析表明VDR基因BsmⅠ位点GG基因型可能是T2DKD发生的独立保护因素 (OR=0.159, P<0.05) , 但与DKD进展无关;ApaⅠ位点SNP与T2DKD的发生及进展均无关 (P>0.05) .25 (OH) D缺乏或不足是T2DKD进展的危险因素 (OR=1.957, P<0.05) .结论 VDR基因BsmⅠ位点GG基因型可能是T2DKD发生的独立保护因素, 但与DKD进展无关;ApaⅠ位点SNP与T2DKD的发生及进展均无关.

关 键 词:维生素D受体基因    单核苷酸多态性    2型糖尿病    糖尿病肾病    25羟维生素D
收稿时间:2017-05-22

Correlation between Vitamin D Receptor (VDR) Gene ApaⅠ, BsmⅠ Single Nucleotide Polymorphism and Diabetic Kidney Disease in Type 2 Diabetic Patients
Abstract:Objetive To investgate the association of Vitamin D receptor gene ApaⅠ, BsmⅠ single nucleotide polymorphism with diabetic kidney disease in type 2 diabetic patients.Methods The single nucleotide polymorphism of VDR gene in 235 type 2 diabetes including 82 normal albuminuria (DKD0 group) , 66microalbuminuria (DKDl group) and 87 macroalbuminuria (DKD2 group) ]and 86 normal controls were detected by Taq Man fluorescent probe. The genotype frequency and allele frequency and relative clinical datawere compared among groups. Results (1) BsmⅠ GG, GA, AA genotype frequencies were 0.931, 0.066, 0.003, allele G and allele G frequencies were 0.964 and 0.036. ApaⅠ CC、CA、AA genotype frequencies were0.536, 0.371, 0.093, allele C and allele A frequencies were 0.721 and 0.279. (2) ApaⅠ allele C frequencies (P<0.05) in DKD2 group (0.770) were significantly higher than in DKD0 group (0.671) , and the allele A frequencies (P<0.05) in DKD2 group (0.230) were significantly lower than in DKD0 group (0.329) (P<0.05) . (3) Logistic analysis showed that BsmⅠ GG genotype (OR = 0.159, P<0.05) was the independent protective factors of DKD occurrence, but it was not related to T2 DKD development. ApaⅠ single nucleotide polymorphism was not related to T2 DKD occurrence and development ( P >0.05) . 25 ( OH) D deficiency/insufficiency may b e the independent risk factor of T2 DKD development (OR = 1.957, P <0.05) .Conclusions BsmⅠ GG genotype is an independent protective factor of T2 DKDoccurrence, but it is not related to T2 DKD development.ApaⅠ singlenucleotide polymorphism is not related to T2 DKD occurrence and development.
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