目的 :探讨维生素D受体(VDR)基因多态性与1型糖尿病(T1D)易感性的关系。方法 :通过检索Pub Med、Web of Science、Wan Fang等数据库中获得有关VDR基因多态性与T1D易感性病例-对照关联研究的文献,计算相关基因位点的OR值和95%的可信区间(CI)。结果:共纳入37篇,研究间有异质性,采用随机效应模型合并,BsmⅠ和ApaⅠ多态性是T1D的易感基因(B vs b:OR=1.10,95%CI:1.04~1.18,P=0.003,AA vs aa:OR=1.24,95%CI:1.05~1.48,P=0.012),而FokⅠ和TaqⅠ多态性与T1D的易感性无关。按种族区域进行亚组分析发现,BsmⅠ多态性是东亚和拉丁美洲T1D的易感基因(B vs b分别为:OR=1.52,95%CI:1.33~1.74,P<0.01;OR 1.51,95%CI:1.25~1.82,P<0.001),ApaⅠ多态性是东亚T1D易感基因(AA vs aa:OR=1.99,95%CI:1.20~3.29,P=0.007)。结论:BsmⅠ和ApaⅠ多态性是东亚T1D的易感基因,且BsmⅠ有可能是拉丁美洲T1D的易感基因,而FokⅠ和TaqⅠ多态性与T1D易感性无关。 Objective: To investigate the relationship between the polymorphism of vitamin D receptor (VDR) gene and the susceptibility to type 1 diabetes mellitus (T1D). Methods: By searching the literature about PubMed, Web of Science, Wan Fang and other related cases of VDR gene polymorphism and T1D susceptibility case-control association, we calculated the OR value of related gene locus and 95% confidence interval (CI). RESULTS: A total of 37 subjects were enrolled. There was heterogeneity in the study. Bsm I and Apa I polymorphisms were the predisposing genes for T1D (B vs OR = 1.10, 95% CI: 1.04-1.18, P = 0.003, AA vs aa: OR = 1.24, 95% CI: 1.05-1.48, P = 0.012). However, the Fok I and Taq I polymorphisms were not associated with the susceptibility to T1D. A subgroup analysis by ethnic region found that the BsmI polymorphism was a predisposing gene for T1D in East Asia and Latin America (OR = 1.52, 95% CI: 1.33-1.74, P <0.01; OR 1.51, 95 % CI: 1.25-1.82, P <0.001). The polymorphism of ApaI is a susceptibility gene of T1D in East Asia (AA vs aa: OR = 1.99, 95% CI: 1.20-3.32, P = 0.007). CONCLUSION: BsmⅠ and ApaⅠ polymorphisms are susceptibility genes of T1D in East Asia, and BsmⅠ may be the predisposing gene of T1D in Latin America. However, FokⅠ and TaqⅠ polymorphisms have no relation with T1D susceptibility.