中文摘要：

目的 鉴定中国汉族人群2型糖尿病易感基因.方法 对30个候选基因进行单核苷酸多态性（SNP）的发现、基因分型,并进行单倍型构建.对群体资料的SNP和单倍型数据进行病例-对照研究,并在77个trio家系中进行传递不平衡检验（TDT）.应用报告基因法对1个阳性SNP位点rs5210的基因表达调控作用进行分析.结果 KCNJ11基因的几个SNP位点与中国汉族人群2型糖尿病相关,其中rs5219的等位基因频率,rs5210、rs2285676和rs5219的基因型频率,以及由rs5219和rs5215构成的单倍型GA的频率,在病例组和对照组间差异具有显著性（P＜0.05）,单倍型GA的TDT检验也具有统计学差异（P＜0.05）.报告基因分析显示rs5210两个等位基因的基因表达调控作用差异具有显著性（P＜0.05）.结论 KCNJ11基因是中国汉族人群2型糖尿病易感基因之一.

英文摘要：

Objective To identify the susceptibility genes of type 2 diabetes in Chinese Han population. Methods Single nucleotide polymorphism （SNP） discovery, genotyping and haplotype construction were performed in 30 candidate genes. Case-control study were carried out in a population-based sample and confirmed by the transmission disequilibrium test （TDT） analysis in 77 trio pedigrees. The effects of the SNP rs5210 on gene expression were studied by reporter gene technique. Results The case-control studies showed that several SNPs on KCNJ11 gene was associated with type 2 diabetes in Chinese Han population, in which the allele frequency of SNP rs5219, the genotype frequency of rs5210, rs2285676 and rs5219, and the frequency of haplotype GA combined of the rs5219 and rs5215 showed significant difference between these two groups （ P 〈 0. 05 ）. In addition, TDT test also showed statistical significance on this haplotype GA （ P 〈 0. 05 ）. The reporter gene assay showed that the effect on gene expression was significantly different between two alleles of rs5210 （P 〈 0. 05 ）. Conclusion KCNJ11 gene is one of the susceptibility genes of type 2 diabetes in Chinese Han population.