Assessment of the Possible Role of FOXP3 Gene (rs3761548) Polymorphism in Psoriasis Vulgaris Susceptibility and Pathogenesis: Egyptian Study

Abstract

Background: Psoriasis is an autoimmune-related chronic inflammatory skin disorder. Psoriasis vulgaris (PV) is the most common form of psoriasis. T regulatory cells (Tregs) are typically considered inhibitors of autoimmune responses. FOXP3 is a master control transcription factor for development and function of Tregs. FOXP3 gene polymorphism changes FOXP3 protein function and quantity leading to Tregs dysfunction that subsequently may be related to PV pathogenesis. Objective: The objective of the present study was to evaluate the possible role of FOXP3 gene (rs3761548) polymorphism in PV pathogenesis. Materials and Methods: One hundred sixty subjects were included in the present study (80 PV patients and 80 well-matched healthy controls). All participants were evaluated by detailed history, general examination, dermatological examination, and psoriasis area and severity index (PASI) score. The detection of FOXP3 gene (rs3761548) polymorphism in patients and controls by PCR-restriction fragment length polymorphism technique was done. Results: There was statistically significant increase in CC genotype and C allele in patients compared to controls, whereas there were non-significant differences in AA and AC genotypes. However, there were non-significant associations between genotype distribution and each of age, sex, family history, PASI score, hair affection, nail affection, hypertension, diabetes mellitus, and body mass index. Conclusion: FOXP3 gene (rs3761548) polymorphism may increase susceptibility of PV and share in its pathogenesis as it leads to changes in FOXP3 protein function and quantity that subsequently affect T-regs functions. Further investigations for the role of other FOXP3 genes polymorphisms in psoriasis pathogenesis and their effects on the treatment response in psoriasis patients are strongly recommended.

Assessment of the Potential Role of Selected Single Nucleotide Polymorphisms (SNPs) of Genes Related to the Functioning of Regulatory T Cells in the Pathogenesis of Psoriasis

“…The forkhead box P3 (FOXP3) is a key transcription factor in the development and function of Tregs [ 17 ]. Previous studies have demonstrated a genetic association between the FOXP3 gene and PsO [ 61 , 62 ]. FOXP3 gene polymorphism may change FOXP3 protein activity, leading to the dysfunction of Tregs.…”

ABCC1, ABCG2 and FOXP3: Predictive Biomarkers of Toxicity from Methotrexate Treatment in Patients Diagnosed with Moderate-to-Severe Psoriasis

“…On the other hand, the FOXP3 gene, located on the X chromosome, encodes a protein from the fork-winged helix family of transcription factors which plays an essential role in modulating regulatory T cells and can act as a transcriptional repressor or activator depending on its interactions with other transcription factors, histones, acetylases, and deacetylases [ 51 , 52 ]. Alterations in FOXP3 (rs3761548; G>C/T/A) can potentiate the inflammatory cascade in psoriasis and consequently not respond to and/or provoke AEs due to MTX treatment [ 53 , 54 ].…”