维生素D受体基因多态性与2型糖尿病的易感性研究

【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Apal位点基因型、等位基因频率分布差异均无统计学意义（x2=0．344，P=0．842；x2=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。

Vitamin D Receptor Gene Polymorphism and the Susceptibility of Type 2 Diabetes Mellitus

[Objective] To explore the relationship between vitamin D receptor gene BsmI and ApaI polymorphism and type 2 diabetes in Chinese Han population. [Methods] The BsmI and ApaI genotypes and alleles frequencies of vitamin D receptor gene were detected by polymerase chain reaction-restriction fragmentqength 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 BsmI 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.