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

Correlation between Vitamin D Receptor(VDR) Gene ApaⅠ, BsmⅠ Single Nucleotide Polymorphism and Diabetic Kidney Disease in Type 2 Diabetic Patients

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.

Objetive To investgate the association of Vitamin D receptor gene ApaI,BsmI single nucleotide polymorphism with diabetic kidney disease in type2diabetic patients.Methods The single nucleotide polymorphism of VDR gene in235type2diabetes[including82normal albuminuria(DKD0group),66microalbuminuria(DKDl group)and87macroalbuminuria(DKD2group)]and86normal controls were detected by TaqMan fluorescent probe.The genotype frequency and allele frequency and relative clinical data were compared among groups.Results(1)BsmI GG,GA,AA genotype frequencies were0.931,0.066,0.003,allele G and allele G frequencies were0.964and0.036.ApaI CC、CA、AA genotype frequencies were0.536,0.371,0.093,allele C and allele A frequencies were0.721and0.279.(2)ApaI allele C frequencies(P<0.05)in DKD2group(0.770)were significantly higher than in DKD0group(0.671),and the allele A frequencies(P<0.05)in DKD2group(0.230)were significantly lower than in DKD0group(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 T2DKD development.ApaI single nucleotide polymorphism was not related to T2DKD occurrence and development(P>0.05).25(OH)D deficiency/insufficiency may be the independent risk factor of T2DKD development(OR=1.957,P<0.05).Conclusions BsmI GG genotype is an independent protective factor of T2DKDoccurrence,but it is not related to T2DKD development.ApaI single nucleotide polymorphism is not related to T2DKD occurrence and development.