转录因子7类似物2基因rs11196205多态性与安徽地区2型糖尿病及糖调节受损的相关性

Variant of rs11196205 in TCF7L2 gene may be associated with type 2 diabetes and impaired glucose regulation in Anhui,China

目的 探讨转录因子7类似物2(TCF7L2)基因rs11196205位点多态性在安徽地区汉族人群中与2型糖尿病(T2DM)和糖调节受损(IGR)的相关性.方法 选取2009年1月至8月于安徽医科大学第一附属医院就诊的2型糖尿病患者300例、糖调节受损患者300例和糖耐量正常对照者(NGT)300名,收集临床资料和采集血样,测定生化指标并提取DNA;探针固定于芯片,PCR制备荧光标记靶基因与芯片杂交,扫描杂交结果;采用单因素方差分析及K-W检验统计分析rs11196205突变等位基因和基因型频率与T2DM及IGR发病的关系.结果 TCF7L2基因rs11196205位点等位基因频率[C在T2DM、IGR、NGT组频率分别为21%(126/600)、19%(114/600)、11%(68/600)]和基因型频率[GC+CC在T2DM、IGR、NGT组频率分别为41%(122/300)、37%(111/300)、22%(67/300)].T2DM与NGT、IGR与NGT、T2DM+IGR与NGT 3组比较差异均有统计学意义(P<0.05).携带突变等位基因C可增加罹患T2DM(OR=2.08,95%C1=1.51～2.86,X2=20.68,P<0.05)、IGR(OR=1.84,95%CI=1.33～2.54,X2=13.71,P<0.05)或任何一种(OR=1.96,95%CI=1.46～2.61,X2=21.18,P<0.05)的风险.与野生纯合基因型GG比较,体内携带一个以上突变基因C复本可增加罹患T2DM(OR:2.38,95%CI=1.67～3.40,X2=23.37,P<0.05)、IGR(OR=2.04,95%CI=1.43～2.92,X2=15.46,P<0.05)或任何一种(OR=2.21,95%CI=1.61～3.03,X2=24.50,P<0.05)的风险.结论 rs11196205位点G→C突变在安徽地区汉族人群中可能与T2DM和IGR关联,携带突变等位基因C可显著增加罹患T2DM和IGR的风险.

Objective To determine whether the variant of rs11196205 in TCF7L2 gene is associated with type 2 diabetes and impaired glucose regulation in Anhui Chinese population.Methods In this case-control study,we chose patients with type 2 diabetes(T2DM group,n=300),and impaired glucose regulation(IGR group,n=300),and normal control subjects(NGT group,n=300)(all from the First Affiliated Hospital of Anhui Medical University).and collected clinical characteristics and blood,extracted DNA. PCR amplified fluorescence-labeled target gene,which then hybridized with probes on the surface of biochip,and got the scanning results.All the data wag analyzed by one-way ANOVA and K-W tests,finally determine whether vailant of rs11196205 related to type 2 diabetes and impaired glucose regulation. Results The frequencies of rs11196205 C-allele wag 21%,19%,11%in T2DM,IGR,and NGT group,respectively;the frequencies of genotype with risk allele(GC and CC)was 41%,37%,22%in T2DM,IGR,and NGT group,respectively.The C allele of rs11196205 had significantly increased the risk for type 2 diabetes(OR=2.08,95%CI:1.51-2.86,Χ2=20.68,P<0.05) and impaired glucose regulation(OR=1.84,95%CI:1.33-2.54,Χ2=13.71,P<0.05),or any ofthem(OR=1.96,95%CI=1.46-2.61,Χ2=21.18,P<0.05).Carriers of the C allele(GC and CC)had higher risk of having type 2 diabetes(OR=2.38,95%CI=1.67-3.40,Χ2=23.37,P<0.05) and impaired glucose regulation(OR=2.04,95%CI=1.43-2.92,Χ2=15.46,P<0.05),or any of them(OR=2.21,95%CI=1.61-3.03,Χ2=24.50,P<0.05).Conclusions The variant of rs11196205 in TCF7L2 gene may be associated with type 2 diabetes and impaired glucose regulation in a Chinese population.