Liu Zhuo, Zhang Yong-wei, Feng Qi-ping, Li Yun-feng, Wu Guo-dong, Zuo Jin, Xiao Xin-hua, Fang Fu-de
National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, CAMS and PUMC, Beijing 100005, China.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2006 Apr;28(2):124-8.
To identify the susceptibility genes of type 2 diabetes in Chinese Han population.
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.
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).
KCNJII gene is one of the susceptibility genes of type 2 diabetes in Chinese Han population.
鉴定中国汉族人群中2型糖尿病的易感基因。
对30个候选基因进行单核苷酸多态性（SNP）发现、基因分型和单倍型构建。在一个基于人群的样本中进行病例对照研究，并在77个三联体家系中通过传递不平衡检验（TDT）分析进行验证。采用报告基因技术研究SNP rs5210对基因表达的影响。
病例对照研究表明，KCNJ11基因上的几个SNP与中国汉族人群的2型糖尿病相关，其中SNP rs5219的等位基因频率、rs5210、rs2285676和rs5219的基因型频率，以及rs5219和rs5215组合的单倍型GA频率在两组之间存在显著差异（P<0.05）。此外，TDT检验在该单倍型GA上也显示出统计学意义（P<0.05）。报告基因分析表明，rs5210的两个等位基因对基因表达的影响存在显著差异（P<0.05）。
KCNJII基因是中国汉族人群中2型糖尿病的易感基因之一。
