Association study of the genetic Polymorphisms of the transcription factor 7-like 2 (TCF7L2) gene and type 2 diabetes in the chinese population
Association study of the genetic Polymorphisms of the transcription factor 7-like 2 (TCF7L2) gene and type 2 diabetes in the chinese population
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DOI：
10.2337/db07-0421
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发表时间：
2007-10-01
期刊：
影响因子：
7.7
通讯作者：
Chuang, Lee-Ming
中科院分区：
文献类型：
--
作者：
Chang, Yi-Cheng;Chang, Tien-Jyun;Chuang, Lee-Ming
转录因子7样2（TCF 7 L2）基因的遗传多态性是少数经验证的遗传变异之一，对欧洲血统人群中2型糖尿病的风险有很大影响。在这项研究中，我们的目的是探讨的效果TCF 7 L2多态性在汉族population.Research设计和方法，我们基因分型20个单核苷酸多态性（SNP）在TCF 7 L2基因在1,520无关的受试者在台湾汉族人群。TCF 7 L2基因的SNP rs7903146 T-和rs 12255372 T-等位基因在中国人群中很少见，与2型糖尿病无关，这可能是由于这两个SNP的频率较低。SNP rs 290487位于靠近该基因3'端的LD区块中，与2型糖尿病相关（等位基因特异性P = 0.0021;置换P = 0.03）。与TT基因型相比，CT基因型的优势比为1.36（95%CI 1.08-1.71; P = 0.0063），CC基因型的优势比为1.51（1.10 - 2.07; P = 0.0085），相应的人群归因风险分数为18.7%。rs 290487的单倍型也与2型糖尿病显著相关（全球P = 0.012）。结论-我们在中国人群中发现了一种新的TCF 7 L2的风险遗传变异体。提示TCF 7 L2基因多态性是中国人群2型糖尿病发病的主要危险因素。
OBJECTIVE-Genetic polymorphisms of the transcription factor 7-like 2 (TCF7L2) gene is one of the few validated genetic variants with large effects on the risk of type 2 diabetes in the populations of European ancestry. In this study, we aimed to explore the effect of the TCF7L2 polymorphisms in a Han Chinese population.RESEARCH DESIGN AND METHODS-We genotyped 20 single nucleotide polymorphisms (SNPs) across the TCF7L2 gene in 1,520 unrelated subjects from a Han Chinese population in Taiwan. The associations of SNPs and haplotypes with type 2 diabetes and linkage disequilibrium (LD) structure of the TCF7L2 gene were analyzed.RESULTS-The previously reported SNPs rs7903146 T- and rs12255372 T-alleles of the TCF7L2 gene were rare and were not associated with type 2 diabetes in a Chinese population, which may attribute to the low frequencies of these two SNPs. SNP rs290487 located in an LD block close to the 3' end of the gene was associated with type 2 diabetes (allele-specific P = 0.0021; permuted P = 0.03). The odds ratio was 1.36 for the CT genotype (95% CI 1.08-1.71; P = 0.0063) and 1.51 for the CC genotype (1.10 -2.07; P = 0.0085) compared with the TT genotype, corresponding to a population attributable risk fraction of 18.7%. The haplotypes composed of rs290487 were also significantly associated with type 2 diabetes (global P = 0.012).CONCLUSIONS-We identified a novel risk-conferring genetic variant of TCF7L2 for type 2 diabetes in a Chinese population. Our data suggested that the TCF7L2 genetic polymorphisms are major determinants for risk of type 2 diabetes in the Chinese population.