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首页> 外文期刊>Journal of genetics >Genetic polymorphism in FOXP3 gene: Imbalance in regulatory T-cell role and development of human diseases
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Genetic polymorphism in FOXP3 gene: Imbalance in regulatory T-cell role and development of human diseases

机译:FOXP3基因的遗传多态性:调节性T细胞作用和人类疾病发展的失衡

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摘要

The FOXP3 gene encodes a transcription factor thought to be important for the development and function of regulatory T cells (Treg cells). These cells are involved in the regulation of T cell activation and therefore are essential for normal immune homeostasis. Signals from microenvironment have a profound influence on the maintenance or progression of diseases. Thus, Tregs have an important marker protein, FOXP3, though it does not necessarily confer a Treg phenotype when expressed. FOXP3 polymorphisms that occur with high frequency in the general populations have been studied in common multifactorial human diseases. Dysfunction of FOXP3 gene product could result in lack of Treg cells and subsequently chronically activated CD4+ T cells which express increased levels of several activation markers and cytokines, resulting in some autoimmune diseases. In contrast, high Treg levels have been reported in peripheral blood, lymph nodes, and tumour specimens from patients with different types of cancer. The present study discusses the polymorphisms located in intron, exon and promoter regions of FOXP3 which have already been investigated by many researchers. FOXP3 has received considerable attention in attempts to understand the molecular aspect of Treg cells. Therefore, in the present study, the relationship between genetic polymorphism of FOXP3 in Treg-cell role and in disease development are reviewed considering the interactive effect of genetic factors.
机译:FOXP3基因编码一种转录因子,被认为对调节性T细胞(Treg细胞)的发育和功能很重要。这些细胞参与T细胞活化的调节,因此对于正常的免疫稳态是必不可少的。来自微环境的信号对疾病的维持或发展有着深远的影响。因此,Treg具有重要的标记蛋白FOXP3,尽管表达时不一定具有Treg表型。已经在常见的多因素人类疾病中研究了在一般人群中高频率发生的FOXP3多态性。 FOXP3基因产物的功能障碍可能导致Treg细胞缺乏,并随后导致CD4 + T细胞被长期激活,而CD4 + T细胞表达的几种激活标志物和细胞因子水平升高,从而导致某些自身免疫性疾病。相反,据报道,患有不同类型癌症的患者的外周血,淋巴结和肿瘤标本中的Treg水平较高。本研究讨论了位于FOXP3的内含子,外显子和启动子区域的多态性,许多研究人员已经对其进行了研究。 FOXP3在试图了解Treg细胞的分子方面受到了相当大的关注。因此,在本研究中,考虑到遗传因素的相互作用,回顾了FOXP3基因多态性与Treg细胞作用和疾病发展之间的关系。

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