Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population
Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population
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中国汉族人群8个基因/位点遗传变异与2型糖尿病的关联研究
DOI：
10.1186/1471-2350-11-97
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发表时间：
2010-06-15
影响因子：
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通讯作者：
Yang, Zhenglin
中科院分区：
文献类型：
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作者：
Lin, Ying;Li, Pengqiu;Yang, Zhenglin
背景：在欧洲原始人群中，至少有20个基因/位点被证明与2型糖尿病相关。其中五个基因被证明与中国人群中的2型糖尿病(T2D)相关。本研究的目的是在中国西部汉族人群中复制8个糖尿病相关基因/基因座的遗传变异与2型糖尿病的关联。采用ABI快照法对1,529例汉族人和1,439例对照的TCF7L2、HHEX、CDKAL1、SLC30A8、PPARG、IGF2BP2、KCNJ11和CDKN2A/CDKN2B等8个基因/基因座的19个单核苷酸多态(SNPs)进行了基因分型。对中国汉族人TCF7L2基因rs7903146与T2D的关联进行Meta分析。结果：在检测的8个基因/基因座中，有4个与T2D显著相关。虽然以往的研究表明TCF7L2基因的rs7903146单核苷酸多态性与T2D的相关性在中国汉族人群中存在争议，但我们在本研究和Meta分析中都证实了TCF7L2基因的rs7903146单核苷酸多态性与T2D之间的显著关联。此外，我们还证实了HHEX中的3个SNP(rs1111875、rs7923837和rs5015480)、CDKAL1中的1个SNP(Rs10946398)和SLC30A8中的3个SNP(rs13266634、rs3802177和rs11558471)与T2D显著相关。结论：TCF7L2、CDKAL1、HEX和SLC30A8基因变异与T2D相关。
Background: 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.Results: 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.Conclusions: We demonstrated that the variants in TCF7L2, CDKAL1, HHEX, and SLC30A8 genes are associated with T2D in a Han Chinese population.