自身免疫性糖尿病的病理异质性、分子遗传学和免疫学。

Q3 Medicine
I I Dedov, M V Shestakova, T L Kuraeva, E V Titovich, T V Nikonova
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引用次数: 3

摘要

本文对文献资料进行综述,并对自身对包括经典T1DM、LADA型和1型自身免疫性多腺综合征(APS1)在内的多种自身免疫性糖尿病(DM)的遗传学、分子遗传学和免疫学违规研究结果进行分析。在T1DM患者中,超过80%的患者携带一种或两种最强易感单倍型:DRB1*04-DQA1*0301-DQB1*0302和DRB1*03-DQA1*0501-DQB1*0201,分别被称为DQ2和DQ8。HLA基因可以模拟疾病的临床特征。在俄罗斯人群中,5岁以下表现为糖尿病的儿童与10岁及以后表现为T1DMin的儿童相比,高风险基因型(DQ2/ DQ8)明显较多,低风险基因型明显较少。16年的长期家庭研究表明,TJDMin高危组的最高发病频率在监护时间的增加过程中不断增加,而在平均和低风险组中发病率较低且不变。在10年的监测中,T1DM表现的最高风险达到90%,这是由HLA高危基因型和许多抗体的存在所定义的,这些抗体从早期就显示出来。LADA -自身免疫性糖尿病的杂交型,以T1DM和T2DM为基础。针对β细胞的自身免疫过程的发展可能仅由基因突变(APS1)引起。在对各种基因的重要性及其生物学价值的研究过程中,部分T1DM病例未发现有贡献的HLA基因和自身免疫标记物,可归因于新的、未知的DM形式。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Nozological Heterogeneity, Molecular Genetics and Immunology of Autoimmune Diabetes Mellitus].

Article is devoted to the review of literature data, and also the analysis of results of own researches concerning genetics, molecular genetics and immunological violations at various forms of the autoimmune diabetes (DM) including classical T1DM, LADA type and an autoimmune polyglandular syndrome of 1 type (APS1). In case of T1DM more than 80% of patients are carriers of one or two strongest predisposing haplotypes: DRB1*04-DQA1*0301-DQB1*0302 and DRB1*03-DQA1*0501-DQB1*0201 designated as DQ2 and DQ8. HLA genes can model a clinical features of disease. In Russian population, the children with diabetes manifestation up to 5-year age has significantly often high risk genotypes (DQ2/ DQ8) and significantly less the low risk genotypes in comparison with children, who had manifestation of T1DMin 10 years and later. The long-term 16-yearsfamily studies showed the maximum frequency of TJDMin high risk group, constantly accruing in process of increase in term of supervision, and in groups of an average and low risk lower and invariable. The highest risk of T1DM manifestation, reaching 90% at 10 years of supervision is defined by existence of HLA high risk genotypes and many antibodies, revealedfrom early age. LADA - the hybridform of autoimmune DM having signs of T1DM and T2DM in the basis. The development of autoimmune process against β-cells can be caused by only gene mutation (APS1). The part of T1DM cases which doesn't have the contributing HLA genes and autoimmune markers in process of studying of the importance of various genes and their biological value can be attributed to new, yet unknown forms of DM.

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来源期刊
CiteScore
1.50
自引率
0.00%
发文量
31
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