摘要目的 探讨2型糖尿病患者中TCF7L2基因rs11196218、rs290487位点多态性与代谢综合征的相关性.方法 选择2型糖尿病患者680例,按国际糖尿病联盟(IDF)诊断标准分为代谢综合征(MS)组和非代谢综合征(对照)组.提取受试者外周血DNA,PCR特异性扩增TCF7L2基因片段,通过连接酶反应,测定该基因rs11196218、rs290487位点的多态性；采用SPSS 13.0软件进行统计分析.结果 各群体符合Hardy-Weinberg遗传平衡,具有人群代表性；MS组TCF7L2基因rs11196218位点基因型频率GG为55.6％(233/419)、AG为35.8％(150/419)、AA为8.6％(36/419),等位基因频率G为73.5％(616/838)、A为26.5％(222/838)；rs290487位点基因型频率GG为14.8％(62/418)、AG为42.3％(177/418)、AA为42.9％(179/418),等位基因频率G为36.0％(301/836)、A为64.0％(535/836).对照组TCF7L2基因rs11196218位点基因型频率GG为54.8％(126/230)、AG为39.1％(90/230)、AA为6.1％(14/230),等位基因频率G为74.3％(342/460)、A为25.7％(118/460);rs290487位点基因型频率GG为15.0％(34/226)、AG为48.2％(109/226)、AA为36.8％(83/226),等位基因频率G为39.1％(177/452)、A为60.9％(275/452).两组TCF7L2基因rs11196218、rs290487位点的基因型和等位基因频率比较,差异无统计学意义(P均＞ 0.05).结论 2型糖尿病患者中TCF7L2基因rs11196218、rs290487位点多态性与代谢综合征未见明显相关性.

abstractsObjective To study the association of TCF7L2 gene rs11196218,rs290487 polymorphisms with metabolic syndrome in type 2 diabetes mellitus population.Methods According to the diagnostic criteria of international diabetes federation (IDF),680 cases of type 2 diabetes patients were divided into metabolic syndrome (MS) group and non metabolic syndrome (control) group.DNA was extracted from peripheral mononuclear cells,and then PCR was performed to specifically amplify TCF7L2 gene fragments.Gene polymorphisms were determined by connected enzyme detection reaction.After population representative was checked by Hardy-Weinberg equilibrium,statistical analysis was completed by software SPSS 13.0.Results The population was accorded with Hardy-Weinberg equilibrium and possessed the population representative.Frequency distributions of genotypes (GG,AG and AA) in TCF7L2 gene rs11196218 in MS and control groups were 55.6％(233/419),35.8％(150/419),8.6％ (36/419) and 54.8％ (126/230),39.1％ (90/230),6.1％ (14/230),respectively.Frequency distributions of alleles(G and A) in TCF7L2 gene rs11196218 in MS and control groups were 73.5％(616/838),26.5％(222/838)and 74.3％(342/460),25.7％(118/460),respectively.Frequency distributions of genotypes (GG,AG and AA) in TCF7L2 gene rs290487 in MS and control groups were 14.8％(62/418),42.3％(177/418),42.9％(179/418) and 15.0％(34/226),48.2％(109/226),36.8％(83/226),respectively.Frequency distributions of alleles(G and A) in TCF7L2 gene rs11196218 in MS and control groups were 36.0％ (301/836),64.0％ (535/836) and 39.1％ (177/452),60.9％ (275/452),respectively.Frequency distribution of allele and genotype in TCF7L2 genes rsl 1196218 and rs290487 between the two groups were not associated with metabolic syndrome in type 2 diabetes population (P ＞ 0.05).Conclusions TCF7L2 gene rs11196218,rs290487 polymorphisms has not association with metabolic syndrome of type 2 diabetes.