【摘要】 目的 探讨川北地区汉族人群调节性T细胞（Treg）转录因子叉头蛋白p3（Foxp3）基因rs3761548多态性与经典1型糖尿病（T1DM）的相关性。方法 回顾性分析2012年4月～2020年9月我院内分泌科收治的180例经典T1DM患者（T1DM组）及同期本地186名无血缘关系的我院健康体检者（对照组）为研究对象。利用聚合酶链反应和质谱法对Foxp3基因rs3761548位点进行基因分型。酶法检测空腹血糖（FPG）、餐后2小时血糖（2 h PG）、血清甘油三酯（TG）、总胆固醇（TC）及高密度脂蛋白胆固醇（HDL-C）;化学发光法检测空腹C肽（FCP）、餐后2小时C肽（2 h CP）;液相色谱法检测糖化血蛋白A_1c(HbA_1c)。结果 Treg细胞转录因子Foxp3基因rs3761548多态性位点等位基因频率和基因型频率分布均符合Hardy-Weinberg平衡定律。rs3761548多态位点A等位基因频率为18.7%。T1DM组和对照组之间rs3761548多态位点A等位基因的频率差异无统计学意义（19.2%vs 18.3%,P>0.05）。T1DM患者rs3761548多态位点A等位基因携带者的LDL-C水平更高，而FCP、2 h CP水平更低（P<0.05）。结论 Foxp3基因rs3761548多态性A等位基因与川北地区汉族T1DM患者LDL-C水平及FCP、2 h CP水平密切相关。更多还原

【Abstract】 Objective To evaluate the association between the Treg（regulatory T cell） transcription factor Foxp3（forkhead box p3） gene rs3761548 polymorphisms and classical type 1 diabetes mellitus（T1 DM） in north Sichuan Han population. Methods In this retrospective study, 180 patients with classic T1 DM and 186 unrelated healthy volunteers from endocrinology department of Nanchong Central Hospital were enrolled. The genotypes and allele frequencies of rs3761548 polymorphisms were assayed by polymerase chain reaction and Mass spectrometry. Serum glucose and lipids were detected by enzymatic kits. Fasting C-peptide（FCP） and postprandial 2 hour C-peptide（2 hCP） were detected by chemiluminescence; glycosylated hemoglobin A_{1 c}(HbA_{1 c}) was detected by liquid chromatography. Results The distribution of allele and genotype frequencies of rs3761548 was in accordance with Hardy-Weinberg equilibrium. The frequency of allele A at rs3761548 site was 18.7%. There was no significant difference of allele A frequency between T1 DM and control groups（19.2% vs 18.3%, P>0.05）. Subjects with allele A at rs3761548 site had higher serum concentration of LDL-C, but lower FCP and 2 hCP levels than those with genotype CC in T1 DM group（P<0.05）. Conclusion These results suggested that A allele of rs3761548 polymorphisms in the Foxp3 gene was associated with LDL-C, FCP and 2 hCP levels in north Sichuan Han patients with T1 DM.更多还原