Forkhead Box P3 (FOXP3) Gene Polymorphisms Association with its Serum Levels in Egyptian Vitiligo Patients

Document Type : Original Article

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Abstract

Background: Vitiligo is an autoimmune disorder characterized by loss of pigmentation from the skin due to selective destruction of cutaneous melanocytes. Its pathogenesis is linked to regulatory T-cell (Treg) dysfunction. Forkhead box P3 (FOXP3) is a specific Treg marker and a master regulator of its activity.
Objective: The aim of this study was to examine the relationship between serum levels of FOXP3 in Egyptian vitiligo patients and single-nucleotide polymorphisms (SNPs) at two distinct loci (rs3761548) A/C and (rs2232365) A/G situated in the promoter region of the FOXP3 gene.
Patients and methods: The case control study comprised 50 untreated vitiligo patients who attended the dermatology clinic at Benha University Hospitals, and 30 age- and sex-matched healthy controls. Polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) was used to identify FOXP3 gene polymorphism, and a FOXP3 enzyme linked immunosorbent assay (ELISA) was used to assess the quantity of FOXP3 in the blood. Results: Highly significant difference (P <0.001) was found between patients and control groups in rs3761548 A/C, rs2232365 A/G and combined genotypes as well as in serum FOXP3 levels measurements. The SNPs (rs3761548 and rs2232365) of FOXP3 gene were significantly associated with susceptibility to vitiligo.
Conclusion: In our sample of Egyptian patients, analysis of FOXP3 protein levels and its gene SNPs demonstrates their substantial correlation with vitiligo. As the number of mutant alleles rises, the risk of vitiligo tends to follow. Patients with vitiligo have lower blood levels of FOXP3, which is indicative of the disease's pathophysiology and progression.
 

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The Egyptian Journal of Hospital Medicine
Volume 89, Issue 2
October 2022
Pages 7663-7670

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