自身免疫多腺体综合征Ⅲ型、1型糖尿病及自身免疫性甲状腺疾病与人类白细胞抗原-DQ基因的相关性

目的研究自身免疫多腺体综合征(APS)Ⅲ型、1型糖尿病(T1DM)及自身免疫性甲状腺疾病(AITD)与HLA-DQ基因的相关性。方法以APSⅢ型(15例)、T1DM(29例)及AITD(40例)为研究对象,27例健康儿童作为对照组。从外周血中提取DNA,用聚合酶链反应扩增DQA1、DQB1的第二外显子区,通过测序对HLA-DQA1*0301、*0501、*0103和DQB1*0201、*0601进行基因分型,分析HLA与APSⅢ型、T1DM及AITD的相关性。结果DQA1*0301在APSⅢ型、T1DM、AITD中的频率(分别为73.3%、62.1%、57.5%)均明显高于对照组(29.6%)(P均<0.05)。DQA1*0501在APSⅢ型、T1DM中的频率(分别为60.0%、55.2%)明显高于对照组(22.2%)(P均<0.05)。DQB1*0601在T1DM中的频率(10.3%)明显低于对照组(33.3%)(P<0.05)。DQB1*0201在T1DM中的频率(44.8%)明显高于对照组(18.5%)(P<0.05),DQA1*0103在APSⅢ型、T1DM、AITD中的频率与对照组比较无明显差异。结论APSⅢ型与T1DM者的遗传背景有相同之处。DQA1*0301同时也是AITD的易感基因。DQB1*0201在T1DM患儿频率增高,DQB1*0601在T1DM患儿频率最低,提示前者为青少年T1DM的易感基因,后者可能为T1DM的保护基因。

Correlative Analysis on Human Leukocyte Antigen-DQ Gene Susceptibility for Autoimmune Polyglandular Syndrome, Type 1 Diabetic Mellitus and Autoimmune Thyroid Disease

Objective To evaluate the associations of human leukocyte antigen(HLA)-DQ gene with autoimmune polyglandular syndrome(APS),type 1 diabetic mellitus(T1DM) and autoimmune thyroid disease(AITD).Methods Fifteen cases of APS,29 cases of T1DM and 40 cases of AITD were selected as research subjects,while 27 healthy children were selected as controls.The DQA1 and DQB1 alleles were determined by polymerase chain reaction(PCR) and sequence-based typing method.The difference of their frequency in children and adolescents was analyzed.Results Compared with controls,APS and T1DM patients had increased frequency of subjects with DQA1*0301,0501(all P<0.05).The frequency of DQB1*0201 was significantly higher in T1DM group,and the frequency of DQB1*0601 was significantly lower in T1DM(P<0.05).The frequency of DQA1*0301 was also significantly higher in AITD group(P<0.05).No significant difference of all above aspects was found between APS and T1DM group.The frequency of DQA1*0103 had no significant difference in all groups.Conclusions HLA-DQA1*0301 and *0501 seem to be susceptible alleles in APS of Chinese children and adolescents.DQA1*0301,0501,DQB1*0201 seem to be susceptible alleles in T1DM,while DQB1*0601 may act as protective one.DQA1*0301 seem to also be susceptible alleles in T1DM.