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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。
Objective: To investigate the relationship between polymorphism of ApaⅠ and TaqⅠ locus of vitamin D receptor (VDR) gene and type 2 diabetes mellitus (T2DM) in Han population of Henan province. Methods: RCR-RFLP was used to detect polymorphisms of ApaⅠand TaqⅠ in 286 T2DM patients and 286 healthy controls in Henan Han population. The relationship between Apa I and Taq I alleles, genotype and haplotype distribution and T2DM was analyzed. Results: There was a significant difference in Apa I allele frequencies between the two groups (P = 0.036). The risk of T2DM among carriers of T allele was 1.328 times higher than those without carriers (95% CI = 1.018-1.733). There were no significant differences in the distribution of Taq I alleles and genotypes between the two groups (P> 0.05). There was a linkage disequilibrium between ApaⅠ and TaqⅠ (D ’= 0.744). Among them, haplotype ApaⅠ-TaqⅠTT was higher in the case group than in the control group [χ 2 = 7.313, OR 95% CI 1.485 1.114 ~ 1.981), P <0.05]. CONCLUSION: Allele T and haplotype TT of Apa I site of VDR gene may be genetic predisposing factors for T2DM in rural Han Chinese in Henan province.