Abstract
BackgroundThe forkhead box protein 3 (FOXP3) transcription factor is one of the main markers of immunological suppression in different pathological profiles, and the presence of polymorphic variants may alter the gene expression of this factor. Despite descriptions of an association between the presence of the rs2232365 polymorphism and chronic diseases, the role of the sex variant in this context has not yet been elucidated, as the FOXP3 gene is located on the human sex chromosome X.ResultsTo contribute to this topic, 323 women and 373 men were enrolled in the study, of which 101 were diagnosed with chronic viral liver diseases (39 women and 62 men), 67 with HTLV-1 infection (44 women and 23 men), 230 with coronary artery disease (91 women and 139 men) and 298 healthy and uninfected blood donors (149 women and men). They were genotyped for the rs2232365 polymorphism. The rs2232365 polymorphism was associated with clinical and pathological aspects and biomarkers of viral infections only in men, with functional differences between different infections.ConclusionsA relationship is suggested between sex and FOXP3 rs2232365 polymorphism, resulting in different biological repercussions.
Highlights
The forkhead box protein 3 (FOXP3) transcription factor is one of the main markers of immunological suppression in different pathological profiles, and the presence of polymorphic variants may alter the gene expression of this factor
At first, we researched the biological meaning of the rs2232365 polymorphism in public databases of gene expression (GText portal - https://www.gtexportal.org/ home/snp/rs2232365)
The allele frequency of the rs2232365 polymorphism was similar between sexes, statistical differences were observed between genders when assessing viral infections (Table 1)
Summary
The forkhead box protein 3 (FOXP3) transcription factor is one of the main markers of immunological suppression in different pathological profiles, and the presence of polymorphic variants may alter the gene expression of this factor. The relevance of single nucleotide polymorphisms (SNPs) located in the promoter region of the FOXP3 gene has been investigated due to they are involved in the transcription activation, as well as in the interaction with regulatory elements of the Pereira et al BMC Immunology (2020) 21:60 gene expression, possibly reflecting on the level of expression of FOXP3 and, in the activation of Treg cells [4, 5] In this context, the rs2232365 polymorphism in the FOXP3 gene is related to functional changes that predispose individuals to diseases due to the mutant allele (C) changing the binding site of transcription factors that interact with the region [6]. The present study evaluated the association of the rs2232365 polymorphism with clinical and pathological aspects and markers of progression of viral and non-viral chronic diseases between the sexes
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