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1 型糖尿病的新基因关联。

Novel gene associations in type 1 diabetes.

机构信息

Immunogenetics Laboratory, University of Turku, Tykistökatu 6A, Turku, Finland.

出版信息

Curr Diab Rep. 2010 Oct;10(5):338-44. doi: 10.1007/s11892-010-0133-3.

Abstract

Recent genome-wide association studies have been able to identify multiple new gene loci affecting type 1 diabetes susceptibility, but the impact of these new defined loci seems to decrease in parallel with their number. The HLA gene region remains the main nominator of genetic susceptibility, although the identity of important genes and especially the mechanisms of their action are still largely unclear. Products of HLA and most other known risk genes are involved in regulation of the immune system in accordance with the autoimmune nature of the disease. The multitude of genes involved in the pathogenesis implies complex pathways where multiple steps in each may be essential in turning the balance of immune response to beta-cell destructing autoimmunity.

摘要

最近的全基因组关联研究已经能够鉴定出多个影响 1 型糖尿病易感性的新基因座,但这些新定义的基因座的影响似乎随着数量的增加而减少。HLA 基因区域仍然是遗传易感性的主要提名者,尽管重要基因的身份,尤其是它们作用的机制,在很大程度上仍不清楚。HLA 和大多数其他已知风险基因的产物参与免疫系统的调节,这与疾病的自身免疫性质一致。参与发病机制的众多基因意味着复杂的途径,其中每个途径的多个步骤对于将免疫反应的平衡转向破坏β细胞的自身免疫可能都是必不可少的。

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