尾加压素II基因多态性与2型糖尿病关系

Research on polymorphism and haplotype of UTS2 gene and type 2 diabetes

目的探讨尾加压素II(UTS2)基因变异及其单倍型与2型糖尿病的关系。方法采用病例对照研究,应用聚合酶链式反应-限性性内切酶片段长度多态性(PCR-RFLP)技术,对UTS2基因多态性进行检测。结果rs228648r、s2890565r、s228651的基因型在2组之间的分布差异有统计学意义(Prs228648<0.001,Prs2890565=0.021,Prs228651=0.050)。GACA单倍型在病例组中的频率(9.3%)显著低于对照组(20.3%,P=0.007),GGTG单倍型在病例组中的频率(4.0%)显著高于对照组(0.6%,P=0.015)。标签基因(Tag SNPs)组成的单倍型GT和AT在病例组中的频率(分别为17.4%和11.1%)显著低于对照组(分别为22.6%和15.5%)(P均<0.05)。结论rs228648(G/A)和rs228651(A/G)的位点变异与2型糖尿病的发生呈正关联,rs2890565(C/T)的TT基因型与2型糖尿病的发生成负关联。U152基因多态性及其单倍型与2型糖尿病的易感性有关。

Objective To investigate the association between polymorphism, haplotype of UTS2 gene and T2DM. Methods Case- control study was introduced in this study with PCR - RFLP（ polymerase chain reaction- restriction fragment length polymorphism）. Results Genotypes of rs228648, rs2890565, rs228651 showed significant difference between case group and control group（ Prs228648 〈 0. 001, Prs2890565 = 0. 021, Prs228651 = 0. 050）. The frequencies of haplotype GACA in case group（9.3%） was much lower than that of control group （20.3%, P = 0.007）. However, the frequencies of haplotype GGTG in case group （4.0 % ） was much higher than that of control group （0.6 %, P = 0.015 ）. The frequencies of Tag SNPs consisting of haplotype GT and AT in case - group were lower than those in control - group （ P 〈 0.05 ）. Conclusion There exist positive association between rs228648（G/A）, rs228651 （A/G） and T2DM and negative association between rs2890565 （C/T）TT gene and T2DM. Haplotype of UTS2 has significant association with T2DM.