【摘要】 目的探讨中高海拔地区T2DM患者解偶联蛋白2（UCP-2）基因启动子区-866G/A多态性,筛选出本地区T2DM患者UCP-2基因启动子区-866G/A相关危险基因,探讨其与T2DM的发病机制。方法收集出生并世居青海且无亲缘关系T2DM患者100例（T2DM组）,体检健康人群100名（NC组）,通过多聚酶链反应-限制性片断长度多态性分析两组UCP-2基因启动子区-866G/A基因型及等位基因频率与T2DM相关指标的关系。结果两组A/A、A/G、G/G基因型频率分布及等位基因A、G频率分布差异有统计学意义（χ²=7.829、8.252,P<0.05）。A/G、A/A基因型较G/G增加T2DM发病风险,其中A/A基因型发病风险最大（OR 2.842,95%CI 1.334～6.054）;等位基因A较G增加T2DM发病风险（OR 1.743,95%CI 1.192～2.549）。T2DM组A/A、A/G、G/G基因型HbA₁c依次降低,HOMA-β依次升高（P<0.05）,A/A与G/G基因型HbA₁c、HOMA-β差异显著（P<0.05）。多元回归分析结果显示,HbA₁c、TG及UCP-2-866G/A基因多态性是T2DM发病的影响因素。结论 UCP-2基因启动子区-866G/A多态性与中高海拔地区T2DM发病相关;中高海拔地区基因型A/A携带者T2DM发生风险较高。更多还原

【Abstract】 Objective To investigate the-866 G/A polymorphism of the uncoupling protein 2（UCP-2）gene promoter in patients with type 2 diabetes mellitus（T2DM）living in middle and high altitudes region,and to find the risk allele of-866 G/A as well as its pathogenic mechanism in the above population.Methods A total of 100 unrelated T2DM patients born and lived in Qinghai were enrolled as（T2DM）group,and 100 healthy people living in Qinghai were selected as normal controls（NC）group.PCR-RFLP method was used to detect the 866 G/A genotype and allele frequency in UCP-2 gene promoter and T2DM related indicators were analyzed.Results There were significant differences in the frequency distribution of A/A,A/G,G/G genotypes and alleles A and G between the two groups（χ²=7.829,8.252,P<0.05）.The A/G and A/A genotypes increased the risk of T2DM compared with G/G,in which A/A genotype had the highest risk（OR 2.842,95%CI 1.334～6.054）.Allele A increased the risk of T2DM compared with allele G（OR 1.743,95%CI 1.192～2.549）.In T2 DM group,HbA₁c decreased,while HOMA-β increased from A/A,A/G,and G/G genotypes（P<0.05）.There were significant differences in HbA₁c and HOMA-β between A/A and G/G genotypes（P<0.05）.Multiple regression analysis showed that HbA₁c,TG and UCP-2-866 G/A gene polymorphisms were the risk factors for T2DM.Conclusion The-866 G/A polymorphism inUCP-2 gene promoter region was associated with the occurrence of T2DM in population living in middle and high-altitude region.The genotype A/A carriers had a higher risk of developing T2DM in middle and highaltitude region.更多还原