目的探讨HHEX基因rs1111875、CDKAL1基因rs7756992、TCF7L2基因rs12255372和rs7903146的多态性与慈溪地区2型糖尿病（T2DM）的相关性。方法应用pyromark Q96 ID 焦磷酸测序仪对543例正常人群和310例T2DM患者HHEX基因rs1111875、CDKAL1基因rs7756992、TCF7L2基因rs12255372和rs7903146的多态性分析。结果 TCF7L2基因rs7903146位点的基因型和等位基因分布糖尿病组和健康人群组之间差异有统计学意义（P<0.05），但rs12255372位点的基因型和等位基因分布两组差异无统计学意义，HHEX基因rs1111875位点和CDKAL1基因rs7756992位点的基因型和等位基因分布两组差异也无统计学意义。结论慈溪地区的人群中，TCF7L2基因可能是2型糖尿病的易感基因之一，其SNP位点rs7903146变异可能与2型糖尿病发病密切相关。% Objective To investigate the correlation between single nucleotide polymorphism rs1111875 of HHEX gene,rs7756992 of CDKAL1 gene,rs12255372,rs7903146 of TCF7L2 gene and type 2 diabetic mellitus(T2DM) in Cixi area. Methods pyromark Q96 ID pyrosequencing instrument was applied to analysis the polymorphism of rs1111875 of HHEX gene,rs7756992 of CDKAL1 gene,rs12255372,rs7903146 of TCF7L2 gene in the 543 cases of normal population and 310 cases of T2D patients. Results The distribution of genotypes and allele frequencies of the SNP of rs7903146 of TCF7L2 gene were found signifcantly different between NC group and T2DM group(all P<0.05),while the rs12255372 of TCF7L2 were found no signifcantly different between NC group and T2DM group(all P>0.05);The distribution of genotypes and allele frequencies of the SNP of rs1111875 of HHEX gene and rs7756992 of CDKAL1 gene were also found no signifcantly different between NC group and T2DM group(all P>0.05). Conclusion These data suggest that the gene polymorphism of TCF7L2 may be associated with the pathogenesis of type 2 diabetes in Cixi area,the SNP rs7903146 of TCF7L2 gene are probably assocjated with type T2DM.
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