维生素D受体基因多态性与2型糖尿病及血清1,25-二羟基维生素D3的相关性研究

目的探讨维生素D受体(vitamin D receptor,VDR)基因ApaI酶切位点多态性与2型糖尿病及血清1,25-二羟基维生素D31,25(OH)2D3]的相关性。方法采用聚合酶链反应限制性片段长度多态性(PCR-RFLP)技术,检测105例2型糖尿病患者和105例正常者的VDR基因型,用酶联免疫吸附(Elisa)法测定血清1,25(OH)2D3水平,并检测相关临床及生化指标,比较VDR基因型和等位基因频率的分布差异及不同基因型血清1,25(OH)2D3等相关指标的差异。结果维生素D受体基因ApaⅠ位点基因型和等位基因频率在两组中的分布差异明显(P<0.01)。糖尿病组等位基因a和基因型aa频率明显高于对照组。基因型AA组及Aa组血清1,25(OH)2D3高于基因型aa组,而收缩压、舒张压及空腹血糖低于基因型aa组,且差别有显著性意义(P<0.05或0.01)。结论 Apa I位点的VDR基因多态性与2型糖尿病存在相关性。血清1,25(OH)2D3水平、空腹血糖及血压与VDR基因多态性密切相关。

Association Between Vitamin D Receptor Gene Polymorphism and Serum 1, 25-dihydroxyvitamin D3 and Type 2 Diabetes Mellitus

Objective To investigate the association between vitamin D receptor gene ApaI polymorphism and type 2 diabetes and blood serum 1,25-dihydroxyvitamin D31,25(OH)2D3].Methods The polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) was used to detect VDR genotype in 105 type 2 diabetic patients and 105 normal controls.Enzyme linked immunosorbent assay(ELISA) was used for the detection of serum 1,25(OH)2D3,and clinical and biochemical indexes were also detected.The alleles frequencies and genotype frequencies of VDR gene were compared between the two groups,and serum 1,25(OH)2D3 and other indexes were compared between the different genotypes.Results There was significant difference in the distrubution of VDR genotype frequencies and alleles frequencies between the two groups(P<0.01).The prevalence of VDR gene genotype frequencies and alleles frequencies in type 2 diabetic patients was significantly different from the other group.Serum 1,25(OH)2D3 was higher in VDR genotype AA and Aa groups than in genotype aa groups,while systolic blood pressure,diastolic blood pressure and fasting blood glucose were lower(P<0.05 or 0.01).Conclusion Apa I polymorphism of VDR gene is associated with type 2 diabetes.Serum 1,25(OH)2D3,fasting blood glucose and blood pressure are also associated with VDR gene polymorphism.