中文摘要：

目的：探讨河南农村地区汉族人群维生素D受体（VDR）基因ApaⅠ和TaqⅠ位点基因多态性与2型糖尿病（T2DM）的关系。方法：采用RCR-RFLP技术检测河南省汉族人群中286例T2DM患者、286例健康对照VDR基因ApaⅠ和TaqⅠ位点的多态性。分析2组间ApaⅠ和TaqⅠ等位基因、基因型和单倍体型分布与T2DM的关系。结果：2组间ApaⅠ等位基因频率差异有统计学意义（P=0.036）,T等位基因携带者患T2DM的风险是未携带者的1.328倍（95%CI=1.018～1.733）。2组间TaqⅠ等位基因和基因型分布差异均无统计学意义（P〉0.05）。ApaⅠ和TaqⅠ之间存在连锁不平衡（D＇=0.744）,其中,单倍体型ApaⅠ-TaqⅠTT在病例组的分布频率高于对照组[χ^2=7.313,OR（95%CI）=1.485（1.114～1.981）,P〈0.05]。结论：在河南农村汉族人群中,VDR基因ApaⅠ位点的等位基因T和单倍体型TT可能是T2DM的遗传易感因素。

英文摘要：

Aim： To investigate the correlation of vitamin D receptor（ VDR） gene at Apa Ⅰ and Taq Ⅰ with type 2diabetes mellitus（ T2DM） in Han population of rural area in Henan Province. Methods： PCR-RFLP method was carried out to examine the SNPs at Apa Ⅰ and Taq Ⅰ of VDR gene in 286 T2 DM patients and 286 healthy controls in the Han population of Henan Province,then the distribution of allele,genotype and haplotypes between the two groups were compared. Results： The allelic frequencies of Apa Ⅰ had significant differences between the two groups（ P = 0. 036）. Individuals with allele T had a risk of 1. 328 times as high as those without it（ 95% CI = 1. 018- 1. 733）. However,the allelic frequencies and genotypic frequencies of Taq Ⅰ had no significant differences between the two groups（ P〈0. 05）. There was significant linkage disequilibrium between Apa Ⅰ and Taq Ⅰ（ D＇ = 0. 744）. The frequency of haplotype Apa Ⅰ-Taq Ⅰ TT was higher in the T2 DM group than control group[χ^2= 7. 313,OR（ 95% CI） = 1. 485（ 1. 114- 1. 981）,P 〈0. 05]. Conclusion： The allele T of Apa Ⅰ and the haplotype TT of Apa Ⅰ-Taq Ⅰ of VDR gene may be associated with higher T2 DM susceptibility in Henan rural Han population.