Abstract
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.
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Acknowledgements
This study was supported by Conselho Nacional de Desenvolvimento Científico e Tecnológico - CNPq, CAPES (Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - CAPES), PROCAD, PNPD, Fundação Araucária do Paraná (FAP), Brasil and Pró-Reitoria de Pós-Graduação - State University of Londrina - PROPPG-UEL. The entire article was revised by a British-born scientific text editor.
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Oda J. M. M., Hirata B. K. B., Guembarovski R. L. and Watanabe M. A. E. 2013 Genetic polymorphism in FOXP3 gene: imbalance in regulatory T-cell role and development of human diseases. J. Genet. 92, xx–xx
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ODA, J.M.M., HIRATA, B.K.B., GUEMBAROVSKI, R.L. et al. Genetic polymorphism in FOXP3 gene: imbalance in regulatory T-cell role and development of human diseases. J Genet 92, 163–171 (2013). https://doi.org/10.1007/s12041-013-0213-7
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DOI: https://doi.org/10.1007/s12041-013-0213-7