naa a22 4500 510787142 CHVBK 20180411083306.0 cr unu---uuuuu 180411e20130401xx s 000 0 eng 10.1007/s12041-013-0213-7 doi (NATIONALLICENCE)springer-10.1007/s12041-013-0213-7 Genetic polymorphism in FOXP3 gene: imbalance in regulatory T-cell role and development of human diseases [Elektronische Daten] [JULIE ODA, BRUNA HIRATA, ROBERTA GUEMBAROVSKI, MARIA WATANABE] The FOXP3 gene encodes a transcription factor thought to be important for the development and function of regulatory Tcells (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. Indian Academy of Sciences, 2013 disease nationallicence exon region nationallicence FOXP3 gene nationallicence intron region nationallicence mutation nationallicence polymorphism nationallicence promoter region nationallicence Treg cells nationallicence ODA JULIE Department of Pathological Sciences, Biological Sciences Center, State University of Londrina, Campus Universitá rio CEP, 86051-990, Londrina, Brazil aut HIRATA BRUNA Department of Pathological Sciences, Biological Sciences Center, State University of Londrina, Campus Universitá rio CEP, 86051-990, Londrina, Brazil aut GUEMBAROVSKI ROBERTA Department of Pathological Sciences, Biological Sciences Center, State University of Londrina, Campus Universitá rio CEP, 86051-990, Londrina, Brazil aut WATANABE MARIA Department of Pathological Sciences, Biological Sciences Center, State University of Londrina, Campus Universitá rio CEP, 86051-990, Londrina, Brazil aut Journal of Genetics Springer-Verlag 92/1(2013-04-01), 163-171 0022-1333 92:1<163 2013 92 12041 https://doi.org/10.1007/s12041-013-0213-7 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s12041-013-0213-7 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- ODA JULIE Department of Pathological Sciences, Biological Sciences Center, State University of Londrina, Campus Universitá rio CEP, 86051-990, Londrina, Brazil aut NATIONALLICENCE 700 1- HIRATA BRUNA Department of Pathological Sciences, Biological Sciences Center, State University of Londrina, Campus Universitá rio CEP, 86051-990, Londrina, Brazil aut NATIONALLICENCE 700 1- GUEMBAROVSKI ROBERTA Department of Pathological Sciences, Biological Sciences Center, State University of Londrina, Campus Universitá rio CEP, 86051-990, Londrina, Brazil aut NATIONALLICENCE 700 1- WATANABE MARIA Department of Pathological Sciences, Biological Sciences Center, State University of Londrina, Campus Universitá rio CEP, 86051-990, Londrina, Brazil aut NATIONALLICENCE 773 0- Journal of Genetics Springer-Verlag 92/1(2013-04-01), 163-171 0022-1333 92:1<163 2013 92 12041 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer