Genetics and pathogenesis of type 1 diabetes: prospects for prevention and intervention.

Genetics and pathogenesis of type 1 diabetes: prospects for prevention and intervention.
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DOI:
10.1111/j.2040-1124.2011.00176.x
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发表时间:
2011-11-30
影响因子:
3.2
通讯作者:
Kawabata Y
Kawabata Y
中科院分区:
医学3区
文献类型:
--
作者:
Ikegami H;Noso S;Babaya N;Kawabata Y

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1型糖尿病在病因学上是一种由遗传和环境因素复杂相互作用引起的多因素疾病,其中遗传因素由多种易感基因组成。鉴定赋予1型糖尿病易感性的基因将阐明1型糖尿病发生和进展的病因途径,从而建立预防和干预该疾病的有效方法。在多种易感基因中,HLA 和 INS 特别重要,因为它们对自身免疫过程中的组织特异性有贡献。 DRB1*04:05‐DQB1*04:01 与自身免疫性 1 型糖尿病、特发性暴发性 1 型糖尿病和自身免疫性甲状腺疾病中的抗胰岛自身免疫相关,表明该单倍型与自身免疫性疾病中的 β 细胞特异性相关。胸腺中参与胰岛素表达的基因有助于 1 型糖尿病的 β 细胞特异性自身免疫机制。这些基因和通路是组织特异性预防和干预 1 型糖尿病的重要靶点。 (《糖尿病投资杂志》,doi:10.1111/j.2040-1124.2011.00176.x,2011)
Type 1 diabetes is etiologically a multifactorial disease caused by a complex interaction of genetic and environmental factors, with the former consisting of multiple susceptibility genes. Identification of genes conferring susceptibility to type 1 diabetes would clarify etiological pathways in the development and progression of type 1 diabetes, leading to the establishment of effective methods for prevention and intervention of the disease. Among multiple susceptibility genes, HLA and INS are particularly important because of their contribution to tissue specificity in the autoimmune process. DRB1*04:05‐DQB1*04:01 is associated with autoimmune type 1 diabetes, idiopathic fulminant type 1 diabetes and anti‐islet autoimmunity in autoimmune thyroid diseases, suggesting that this haplotype is associated with beta‐cell specificity in autoimmune diseases. Genes involved in the expression of insulin in the thymus contribute to beta‐cell‐specific autoimmune mechanisms in type 1 diabetes. These genes and pathways are important targets for tissue‐specific prevention and intervention of type 1 diabetes. (J Diabetes Invest, doi: 10.1111/j.2040‐1124.2011.00176.x, 2011)
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