1型糖尿病与HLA-DRB1、DQB1基因相关性研究

Relationship between HLA-DRB1,DQB1 alleles and type 1 diabetes mellitus

目的:研究中国江苏地区汉族人群1型糖尿病(T1DM)与人类白细胞抗原(HLA)-DRB1、DQB1基因及单倍型频率的相关性。方法:选取江苏地区汉族人群T1DM患者(112例)与对照组(69例),运用聚合酶链反应-寡核苷酸探针序列特异性引物(PCR-SSO)技术,进行HLA-DRB1、DQB1基因分型,两组间等位基因频率比较采用χ2检验,通过Arlequin软件进行单倍型频率的分析。结果:112名T1DM患者中检测到DRB1位点等位基因17个(对照组19个),DQB1位点等位基因7个(对照组7个)。与对照组相比,T1DM组DRB1*0901、DRB1*0405和DRB1*0301频率明显增高,DQB1位点的DQB1*0201与DQB1*0303频率明显高于对照组;与对照组相比,T1DM患者明显升高的单倍型频率为:DRB1*0901-DQB1*0303、DRB1*0301-DQB1*0201、DRB1*0405-DQB1*0401和DRB1*0405-DQB1*0302。结论:中国江苏地区汉族T1DM患者HLA基因DR位点的DRB1*0901、DRB1*0405、DRB1*0301及DQ位点的DQB1*0201、DQB1*0303对T1DM易感。发现了4个新的具有易感作用的单倍型:DRB1*0901-DQB1*0303、DRB1*0301-DQB1*0201、DRB1*0405-DQB1*0401和DRB1*0405-DQB1*0302。

Objective：To explore the relationship between human leucocyte antigen（HLA）-DRB1,DQB1 alleles and type 1 diabetes mellitus（T1DM） in Jiangsu area.Methods：We recruited 112 T1DM patients and 69 controls.The alleles were analyzed with polymerase chain reaction-sequence special oligonucleotide primers （PCR-SSO）.The frequency of allele and haplotype were calculated by the chisquare test or Arlequin software.Results：17 DRB1 alleles and 7 DQB1 alleles were detected in 112 T1DM patients,the frenquencies of DRB1＊0901,DRB1＊0405,DRB1＊0301,DQB1＊0201 and DQB1＊0303 alleles in the patients were significantly higher than that in healthy control group;the frequencies of DRB1＊0901-DQB1＊0303,DRB1＊0301-DQB1＊0201,DRB1＊0405-DQB1＊0401 and DRB1＊0405-DQB1＊0302 haplotypes were higher in T1DM than that in the controls.Conclusion：T1DM is associated with DRB1 ＊0901,DRB1＊0405,DRB1＊0301,DQB1＊0201 and DQB1＊0303.And we find four susceptible DR-DQ haplotypes,DRB1＊ 0901-DQB1＊0303,DRB1＊0301-DQB1＊0201,DRB1＊0405-DQB1＊0401 and DRB1＊0405-DQB1＊0302 in Jiangsu area.