人白细胞抗原DQB1基因与1型糖尿病相关性研究  

The associations of HLA-DQB1 gene with onset age and autoantibodies in type 1 diabetes

作　　者：刘昌丽[1] 余叶蓉[1] 刘洪[2] 张祥迅[2] 赵桂芝[2] 

机构地区：[1]四川大学华西医院内分泌科 [2]四川大学华西医院内分泌与代谢病实验室,成都610041

出　　处：《中华医学遗传学杂志》2004年第4期368-371,共4页Chinese Journal of Medical Genetics

摘　　要：目的　研究四川地区汉族人群人类白细胞抗原 (humanleucocyteantigen ,HLA)DQB1基因与 1型糖尿病 (type 1diabetesmellitus ,T1DM )发病年龄及糖尿病自身抗体的相关性。 方法　应用聚合酶链反应 序列特异性引物方法对 46例T1DM患者和 5 2名正常人进行HLA DQB1基因分型 ,并对T1DM患者以酶联免疫吸附法定性检测谷氨酸脱羧酶抗体 (glutamicaciddecarboxylaseantibody ,GADA)及抗胰岛细胞抗体 (isletcellantibody ,ICA)。结果　DQB1 0 2 0 1基因阳性率T1DM组高于对照组 (OR =18,P <0 .0 0 5 ) ;而DQB1 0 60 1、 0 60 2基因阳性率对照组高于T1DM组 (OR分别为 0 .0 7、0 3 1,P <0 .0 5 )。DQB1 0 60 2基因阳性率在发病年龄≥ 2 0岁T1DM组高于 <2 0岁组 (P <0 .0 5 )。携带DQB1 0 2 0 1基因的患者中 ,GADA阳性率明显高于此基因阴性的患者 (P <0 .0 2 5 )。结论　四川地区汉族人群中DQB1 0 2 0 1可能是 1型糖尿病的易感基因 ,而DQB1 0 60 2、 0 60 1是保护性基因 ,且DQB1 0 60 2基因的存在有可能推迟 1型糖尿病的发病 ;DQB1 0 2 0 1的阳性率与GADA阳性率正相关。Objective To evaluate the associations of human leukocyte antigen (HLA) DQB1 gene with onset age and autoantibodies in type 1 diabetes mellitus(T1DM) in Chinese Han population in Sichuan area. Methods Forty-six type 1 diabetic patients and 52 healthy control subjects were involved in this study. HLA-DQB1 typing was performed by polymerase chain reaction-sequence specific primer(PCR-SSP). Glutamic acid decarboxylase antibody (GADA) and islet cell antibody (ICA) were qualitatively analyzed by enzyme linked immunosorbent assay (ELISA). Results The positive rate of DQB1*0201 was higher in T1DM than in controls (OR=18, P<0.005), but those of DQB1*0601,*0602 were higher in controls than in T1DM(OR=0.07, 0.31 respectively,both P<0.05). The positive rate of DQB1*0602 in type 1 diabetic patients with onset age≥20 years was higher than that in the patients with onset age <20 years(P<0.05). GADA was more frequent in DQB1*0201(+) patients than in DQB1*0201(-) patients (P<0.025). Conclusion The findings show that DQB1*0201 is susceptible to T1DM, whereas DQB1*0601,*0602 are protective in Chinese Han population in Sichuan area. DQB1*0602 may delay the onset of T1DM. The positive rate of DQB1*0201 correlates positively with that of GADA.

关 键 词：DQB1 T1DM 基因分型 1型糖尿病 阳性率 患者 GADA 汉族人群 聚合酶链反应-序列特异性引物 人类白细胞抗原 

分 类 号：R587.1[医药卫生—内分泌] R758[医药卫生—内科学]