2型糖尿病与HLA-E基因相关性研究

Study on the correlation between type 2 diabetes mellitus and HLA-E

目的探讨人类白细胞抗原(human leukocyte antigen,HLA)-E基因与2型糖尿病(type 2 diabetes mellitus,T2DM)的相关性。方法选择深圳市人民医院确诊的T2DM患者254例作为病例组,同期选取深圳市血液中心参加无偿献血的健康献血者272例作为对照组。采用聚合酶链式反应-直接测序分型法(polymerase chain reaction-sequence based typing,PCR-SBT)对两组人群进行HLA-E基因第3外显子和启动子区进行序列测定,比较分析病例组与对照组的基因频率。结果HLA-E*01:01与HLA-E*01:03的差异主要体现在第3外显子756碱基处,当756位碱基只有G峰时,为HLA-E*01:03纯合子,当756位碱基只有A峰时,为HLA-E*01:01纯合子,当756位碱基是G+A峰时,为HLA-E*01:01/E*01:03杂合子。HLA-E*01:03基因频率比较结果显示,病例组中的HLA-E*01:03阳性基因频率显著高于健康对照组,差异有统计学意义[例(%):189(87.10)比209(76.84),χ^(2)=8.39,P<0.05]。当NT-26位只有G时,为HLA-E*01:01:01:01纯合子,当NT-26位碱基只有T峰时,为HLA-E*01:01:01:06纯合子,当NT-26位碱基是G+T峰时,为HLA-E*01:01:01:01/E*01:01:01:06杂合子。NT-26T基因频率比较结果显示,病例组与对照组NT-26T基因频率的组间差异无统计学意义(P>0.05)。结论HLA-E*01:03基因是T2DM的易感基因,其可能成为预测、诊断或治疗T2DM的一项指标。

Objective To explore the correlation between human leukocyte antigen(HLA)-E gene and type 2 diabetes mellitus(T2DM).Methods A total of 254 T2DM patients from Shenzhen People’s Hospital were selected as the patient group,while 272 healthy blood donors participating in the blood donation from Shenzhen Blood Center were selected as the normal control group.Polymerase chain reaction-sequence based typing(PCR-SBT)was used to sequence the third exon and promoter region of HLA-E gene in both group,and the gene frequencies of the two groups were compared and analyzed.Results The difference between HLA-E*01:01 and HLA-E*01:03 is mainly reflected at the 756 base of exon 3.When the 756 base has only a G peak,it is a homozygous HLA-E*01:03,the 756 base has only an A peak,it is a homozygous HLA-E*01:01,and the 756 base has a G+A peak,it is a heterozygous HLA-E E*01:01/E*01:03.The comparison of HLA-E*01:03 gene frequency showed that the frequency of HLA-E*01:03 positive genotype in the patient group was significantly higher than that in the healthy control group[case(%):189(87.10)vs 209(76.84),χ^(2)=8.39,P<0.05].When the NT-26 base has only G,it is HLA-E*01:01:01:01 homozygous,the NT-26 base has only T peak,it is HLA-E*01:01:01:06 homozygous,and the NT-26 base has G+T peak,it is HLA-E*01:01:01:01/E*01:01:01:06 heterozygous.The comparison of NT-26T gene frequency showed no statistically significant difference between the patient group and the healthy control group(P>0.05).Conclusions HLA-E*01:03 gene is a susceptibility gene for T2DM,and it may be a marker for the prediction,diagnosis or treatment of T2DM.