北京地区人群解偶联蛋白2基因启动子-866G／A变异与2型糖尿病的风险

Correlation between-866G/A variation in the promoter region of uncoupling protein-2 gene and the risk of type 2 diabetes in population from Beijing

目的:探讨北京地区人群解偶联蛋白2启动子区域-866G/A位点与2型糖尿病发生的关系。方法:采用多聚酶链反应-限制性内切酶片段长度多态性技术检测北京地区470例2型糖尿病散发患者和217名健康人群中解偶联蛋白2启动子-866G/A的分布情况,并将该基因型分布模式与国际人类基因组单倍体型计划数据库中的人群模式进行比较,比较不同基因型间临床指标的差异。结果:未发现解偶联蛋白2-866G/A位点各基因型和等位基因与2型糖尿病的发生存在显著性关联(P=0.538,0.301)。该基因型分布模式与国际人类基因组单倍体型计划数据库中的日本人群模式更为相近。以性别、腰围和体质量指数为协变量进行了分层分析和Logisitic回归调整,但结果仍未发现该变异位点各基因型和等位基因与2型糖尿病的发生存在显著性关联。比较不同基因型和血压、肥胖指标(体质量指数、腰围、腰臀比)、血糖指标(糖化血红蛋白、空腹血糖、餐后2h血糖)、血脂、胰岛素等临床指标及胰岛素抵抗相关指数的关系,所有基因型间指标比较未发现存在具有临床意义的显著性差异。结论:未发现解偶联蛋白2基因启动子区域-866G/A变异位点的基因型和等位基因分布对2型糖尿病的发生风险存在贡献效应,其可能不是北京人群2型糖尿病发生的易感基因。

OBJECTIVE： To explore the relationship between the polymorphism of -866G/A variant in the promoter region of uncoupling protein-2 gene and type 2 diabetic mellitus （T2DM） in the population of Beijing region. METHODS： Using polymerase chain reaction- restriction fragment length polymorphism, we tested the distribution of the -866 G/A in promoter region of uncoupling protein-2 gene of 470 sporadic T2DM patients and 217 unrelated healthy Chinese from Beijing. This variant distribution mode was compared with the data in haplotype mapping database. The clinical physical and plasma markers were also compared between different genotypes. RESULTS： The frequency of the allele and the genotype had no significant correlation with T2DM （P=-0.538, 0.301）. The 866 G/A variant distribution mode in this study was close to the mode of Japanese in haplotype mapping database. Stratified analysis and Logistic regression analysis were performed taken gender, waistline and body mass index as covariants. Results showed that the frequency of the allele and the genotype in variant site was still no associated with the development of T2DM. Compared the clinical markers, such as blood pressure, obesity indices （bone mass index, waistline and waist-to-hip ratio）, blood glucose indices （glycosylated hemoglobin, fasting blood glucose and blood glucose after meals two hours）, lipid and insulin, as well as insulin resistance, there was no significant difference between genotypes. CONCLUSION： The distribution of genotype and allele in 866 G/A variant in the promoter region of uncoupling protein-2 gene has no contribution on the T2DM in the population from Beijing region, it is possible not the predisposing genes of the T2DM development in Beijing population.