深圳汉族人中上游刺激因子1基因单核苷酸多态性与2型糖尿病之间的关系

Association of upstream transcription factor 1(USF1) single-nucleotide polymorphism with type Ⅱ diabetes mellitus in Han Chinese in Shenzhen

目的分析深圳汉族人中上游刺激因子1(USF1)基因单核苷酸多态性(SNP)及其与2型糖尿病之间的相关性。方法采用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)结合琼脂糖凝胶电泳技术检测137例健康者及64例2型糖尿病患者SNP(rs3737787)基因型及等位基因频率分布,同时采用生化方法测定所有研究对象的血脂、血糖,胰岛素和C-肽水平。结果糖尿病组SNP(rs3737787)等位基因频率显著高于对照组(P=0.006)。CC纯合子患糖尿病的风险是TT纯合子的3.74倍(OR=3.74,95%CI:1.56～8.93),且经Logistic回归分析,校正年龄、体质量指数和血浆高密度脂蛋白(HDL-C)、低密度脂蛋白(LDL-C)、血脂及糖化血红蛋白水平等其他混杂因素影响后,差异有统计学意义(OR=2.69,95%CI:1.25～5.87)。结论在深圳汉族人群中以USF1中的rs3737787作为主要等位基因,与2型糖尿病发病风险高度相关。

Objective To analyze the rs3737787 single nucleotide polymorphisms（SNPs） and its association with essential type Ⅱ diabetes mellitus（DM）.Methods The genotypes of rs3737787 polymorphism were determined in 137 healthy individuals and 64 patients with type Ⅱ DM by polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）.Serum levels of lipids,glucose,insulin and C-peptide in these subjects were also estimated by biochemical methods.Results The frequency of the rs3737787 allele in DM patients was significantly higher than that of the control group（0.440 vs.0.295,P=0.006）.When compared with the TT genotype,CC homozygotes significantly increased DM risk（OR=3.74,95%CI：1.56-8.93）.By Logistic regression analysis,after adjusting the influence of confounding factors,the difference showed statistical significance（OR=2.69,95%CI：1.25-5.87）.Conclusion The major allele of rs3737787 in USF1 gene is highly associated with the occurrence risk of typeⅡdiabetes in Shenzhen area.