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[自身免疫性糖尿病中的遗传风险因素、其意义及功能]

[Genetic risk factors in autoimmune diabetes mellitus, their significance and function].

作者信息

Novota P, Cejková P, Cerná M, Andĕl M

机构信息

CBO--Oddĕlení bunĕcné a molekulární biologie 3. LF UK, Oddĕlení imunogenetiky IKEM, Praha.

出版信息

Cas Lek Cesk. 2004;143(3):159-63.

Abstract

Autoimmune diabetes mellitus is characterized by selective destruction of beta pancreatic cells and by cellular infiltration with T- (particularly Th1) and B-lymphocytes. The marker of autoimmunity is the presence of autoantibodies (ICA, IAA, GADab, IA2ab). Etiology of the autoimmune process is still unknown. It is suggested that the pathogenesis is activated by genetic and environmental factors. Individual predisposition can influence also the onset and progression of the disease. The most important genetic risk factors of autoimmune diabetes mellitus are the HLA class II alleles (DQB10302, 0201; DRB10301, 0401; DQA1*0301, 0501) and the risk alleles of INS-VNTR of the promoter region. Recent studies have shown various genetic risk factors for the autoimmune diabetes mellitus. Individual predispositions belong to the genetic polymorphisms in cytokine genes (IL-10, IL-12, IL-18) and the microsatellite polymorphism of MHC class I chain-related gene A (MIC-A).

摘要

自身免疫性糖尿病的特征是胰腺β细胞的选择性破坏以及T淋巴细胞(尤其是Th1)和B淋巴细胞的细胞浸润。自身免疫的标志物是自身抗体(ICA、IAA、GADab、IA2ab)的存在。自身免疫过程的病因仍然未知。有人认为其发病机制是由遗传和环境因素激活的。个体易感性也会影响疾病的发生和发展。自身免疫性糖尿病最重要的遗传危险因素是HLA II类等位基因(DQB10302、0201;DRB10301、0401;DQA1*0301、0501)以及启动子区域INS-VNTR的风险等位基因。最近的研究表明了自身免疫性糖尿病的各种遗传危险因素。个体易感性属于细胞因子基因(IL-10、IL-12、IL-18)中的遗传多态性以及MHC I类链相关基因A(MIC-A)的微卫星多态性。

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