中文摘要：

目的探讨FOXA1基因多态性与2型糖尿病的关系。方法采用MALDI—TOF SNPs质谱分析技术，检测190名2型糖尿病患者和193名对照者FOXA1基因rs7144658位点基因型，利用SPSS13．0软件进行统计分析。结果病例组与对照组在性别、年龄分布上差异均无统计学意义。对照组基因型频率分布符合Hardy-Weinberg平衡。病例组该位点TT基因型占76．5％，TC基因型占19．3％，CC基因型占4．3％；对照组TT基因型占78．1％，TC基因型占20．3％，CC基因型占1．6％。两组基因型频率分布差异无统计学意义（χ^2=2．49，P=0．287）。病例组rs7144658位点各基因型与TC、TG、HDL—C和LDL—C均不相关。结论未发现FOXAl基因多态性与2型糖尿病的发生具有显著关联，未发现rs7144658位点基因突变对2型糖尿病患者的血脂水平有明显影响。

英文摘要：

Objective To detect the relationship between FOXA1 gene polymorphism and type 2 diabetes mellitus （T2DM）. Methods The techniques of mass chromatographic analysis were used to detect the polymorphism of FOXA1 gene in 190 patients with T2DM and 193 healthy control persons without T2DM. We used the software SPSS 13.0 for statistical analysis. Results There was no significant difference between the case and control group about sex and age distribution. The distribution of genotypic frequency in control group consistented with the Hardy-Weinberg law. The frequency of the TT, TC and CC genotype in case were 76.5% , 19.3% and 4.3%. The frequency of the TT, TC and CC genotype in control were 78.1% , 20.3% and 1.6%. There was no significant difference between the case and control group about genotyFe frequency （x2 = 2.49 ,P = 0. 287）. There may be no significant difference between the TC, TG, HDL-C, LDL-C level and genotypes of rs7144658 in mutant. Conclusion There may be no significant relationship between the polymorphism of FOXA1 gene and T2DM. Genie mutation on rs7144658 may not affect the lipid level in type 2 diabetics.