Center for Human Molecular Biology & Genetics, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China.
BMC Med Genet. 2010 Jun 15;11:97. doi: 10.1186/1471-2350-11-97.
At least twenty genes/loci were shown to be associated with type 2diabetes in European original populations. Five of these genes were shown to be associated with type 2 diabetes (T2D) in Chinese populations. The purpose of this study was to replicate the association of genetic vairants in the eight diabetes-related genes/loci with type 2 diabetes in a Han Chinese cohort from western part of China. Nineteen single nucleotide polymorphisms (SNPs) from the eight genes/loci including TCF7L2, HHEX, CDKAL1, SLC30A8, PPARG, IGF2BP2, KCNJ11, and CDKN2A/CDKN2B were genotyped in 1,529 cases and 1,439 controls in a Han Chinese population using the ABI SNaPshot method. The meta-analysis of the association between rs7903146 in TCF7L2 gene and T2D in the Han Chinese was performed.
Among the eight genes/loci examined, we found that four were significantly associated with T2D. Although previous studies showed that the association between the SNP rs7903146 in the TCF7L2 gene and T2D was controversial within the Han Chinese population, we have confirmed the significant association between the SNP rs7903146 in the TCF7L2 gene and T2D in both this study and the meta-analysis in the population. In addition, we also confirmed that three SNPs (rs1111875, rs7923837 and rs5015480) in HHEX , one SNP (rs10946398) in CDKAL1, and three SNPs (rs13266634, rs3802177 and rs11558471) in SLC30A8 were significantly associated with T2D in the population being studied.
We demonstrated that the variants in TCF7L2, CDKAL1, HHEX, and SLC30A8 genes are associated with T2D in a Han Chinese population.
至少有二十个基因/位点被证明与欧洲原始人群的 2 型糖尿病有关。其中有五个基因被证明与中国人群的 2 型糖尿病（T2D）有关。本研究的目的是在中国西部的汉族人群中复制与 8 个糖尿病相关基因/位点的遗传变异与 2 型糖尿病的关联。TCF7L2、HHEX、CDKAL1、SLC30A8、PPARG、IGF2BP2、KCNJ11 和 CDKN2A/CDKN2B 这 8 个基因/位点的 19 个单核苷酸多态性（SNP）采用 ABI SNaPshot 方法在 1529 例病例和 1439 例对照中进行了基因分型。对 TCF7L2 基因中 rs7903146 与汉族人群 T2D 之间的关联进行了荟萃分析。
在所研究的 8 个基因/位点中，我们发现有 4 个与 T2D 显著相关。尽管先前的研究表明，TCF7L2 基因中 SNP rs7903146 与 T2D 之间的关联在汉族人群中存在争议，但我们已经证实了该 SNP rs7903146 与 T2D 之间的显著关联，无论是在本研究中还是在人群的荟萃分析中。此外，我们还证实了 HHEX 基因中的三个 SNP(rs1111875、rs7923837 和 rs5015480)、CDKAL1 基因中的一个 SNP(rs10946398)和 SLC30A8 基因中的三个 SNP(rs13266634、rs3802177 和 rs11558471)与该研究人群中的 T2D 显著相关。
我们证明了 TCF7L2、CDKAL1、HHEX 和 SLC30A8 基因中的变异与汉族人群中的 T2D 有关。
