维生素D受体基因多态性与2型糖尿病的易感性研究

摘要

[Objective] To explore the relationship between vitamin D receptor gene Bsml and Apal polymorphism and type 2 diabetes in Chinese Han population. [Methods] The Bsml and ApaI genotypes and alleles frequencies of vitamin D receptor gene were detected by polymerase chain reaction-restriction fragment-length polymorphism(PCR-RFLP) analysis in 83 normal controls(Group CN) and 96 type 2 diabetic patients(Group T2DM). [Results] Significant differences were observed in the genotype and the distribution of allele frequencies of Bsrnl polymorphism between group CN and group T2DM (X2 = 6.254, P = 0.012; X2 = 4.547, P =0.033). The relative risk of the B allele was 2.50. Analysis of the ApaI polymorphism did not show significant differences between two groups(X2 =0.344 , P = 0.842 ; X2 = 0.090 , P = 0.765). [Conclusion] The BsmI restriction site in the vitamin D receptor gene is closely associated with the incidence of type 2 diabetes, and the B allele may be the predisposing gene of type 2 diabetes.%[目的]探讨维生素D受体基因BsmI、ApaI位点多态性与汉族人群2型糖尿病的相关性.[方法]采用PCR-限制性多态性片断长度(RFLP)技术检测83例健康对照(NC)者、96例2型糖尿病(T2DM)患者的维生素D受体BsmI、ApaI位点基因型和等位基因频率.[结果]①T2DM组与NC组BsmI位点基因型、等位基因频率分布差异有统计学意义(均P<0.05),两组间等位基因B的相对风险率为2.50.②T2DM组与NC组ApaI位点基因型、等位基因频率分布差异均无统计学意义(χ2=0.344,P=0.842;χ2= 0.090,P=0.765).[结论]维生素D受体基因BsmI位点与2型糖尿病的发生密切相关,等位基因B可能是2型糖尿病的易感基因.