TCF7L2基因多态性与中国人群2型糖尿病发病风险的关联研究  

A study on the association between DG10S478 polymorphism and type 2 diabetes mellitus risk in Chinese population

作　　者：李文毅[1] 骆天红[1] 张宏利[1] 徐佳[1] 李果[1] 罗敏[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院,上海市内分泌代谢病研究所,上海市内分泌代谢病临床医学中心,上海200025

出　　处：《诊断学理论与实践》2007年第2期111-114,共4页Journal of Diagnostics Concepts & Practice

基　　金：上海市教委课题(04BB08);国家973项目子课题(2004CB518602)

摘　　要：目的:探讨TCF7L2基因微卫星多态性与中国人群2型糖尿病(2-DM)发病风险的关系。方法:应用ABI3700测序仪对921例2-DM患者和1107名正常人的微卫星(DG10S478)进行测序分型,并进行与2-DM的关联分析。结果:在本研究人群中共发现微卫星(DG10S478)的6种等位基因,分别是-8、-4、0、4、8和12。主要等位基因0在本研究人群中的平均频率为95.63%,非零等位基因X在正常组和2-DM组中的频率分别是3.61%和4.83%,其相对危险度为1.35(95%的可信区间为1.00～1.84,P=0.053)。X/0基因型在2-DM组中的分布频率较正常对照组显著升高(9.55%比7.23%,P=0.058),该基因型的相对危险度为1.34(95%的可信区间为0.98～1.84,P=0.069)。此外,胰岛功能相关指数IGI在携带风险等位基因X人群和非携带人群中有显著差异(1.22±0.31比1.41±0.25,P=0.042)。结论:TCF7L2基因微卫星D10S478的多态性可能与中国人群2-DM发病相关,但考虑到该风险等位基因在中国人群中属低频分布,故其在中国人群2-DM的发病过程中可能不起显著作用。Objective To explore the possible association between microsatellite DG10S478 and type 2 diabetes mellitus in Chinese subjects. Methods Nine hundred and twenty-one diabetic patients and 1107 well matched healthy controls were genotyped for DG10S478, Results： The X （combination of none-zero） allele was marginally more frequent in type 2 diabetes mellitus patients than that in normal control subjects （4.83% vs 3.61%, P=0.053）, with an OR of 1.354 （95%CI 0.996-1.842, P=0.053） and the X/0 genotype was also marginally more frequent in type 2 diabetes mellitus patients （9.55% vs 7.23%, P=0.058）, with a heterozygous genotype relative risk of 1.341（95%CI 0.977-1.840,P=0.069）, Furthermore, significant difference was observed between X allele carriers and non-carriers for insulin secretion related index （insulinogenic index, IGI）, with a reduction of 35% （16.67±11.28 vs 25.58±24.72, P=0.047） of IGI in X allele carriers. Conclusions The data suggested that the genetic variation D10S478 in the TCF7L2 gene may probably be associated with type 2 diabetes mellitus in Chinese population; however, due to the low frequency of the risk allele, its attribution to the susceptibility to type 2 diabetes mellitus in Chinese population is not important.

关 键 词：2型糖尿病 TCF7L2 微卫星 

分 类 号：R587.1[医药卫生—内分泌]