Lupus disease activity state and Foxp3 gene polymorphism … Original Research Article …

The Egyptian Journal of Immunology
E-ISSN (2090-2506)
Volume 32 (1), January 2025
Pages: 129 – 138
www.Ejimmunology.org
https://doi.org/10.55133/eji.320112
Hanaa I. Abd El-Hady1, Enas I. Abdelhady2, and Mai A. Kamel1
1Department of Medical Microbiology & Immunology, Faculty of Medicine, Zagazig University, Zagazig, Egypt.

2Department of Rheumatology & Rehabilitation, Faculty of Medicine, Zagazig University, Zagazig, Egypt.

 

Corresponding author:
Hanaa I. Abd El-Hady, Department of Medical Microbiology & Immunology, Faculty of Medicine, , Zagazig University, Zagazig, Egypt.
Email: hanaa4islam@yahoo.com

 

Abstract

The autoimmune disease systemic lupus erythematosus (SLE) is presented with many clinical symptoms. The transcription factor fork head box protein 3 (Foxp3) is expressed on regulatory T (T-reg) cells and essential for its development and function. Functional single-nucleotide polymorphisms (SNPs) in the Foxp33279 (rs3761548 C/A) gene influence SLE pathogenesis. We aimed to assess the relation between the functional polymorphism in Foxp33279 (rs3761548 C/A) gene and risk of SLE development and lupus disease activity state. This case-control study included SLE patients, diagnosed according to American College of Rheumatology/Systemic Lupus International Collaborating Clinics (ACR/SLICC) classification criteria. The degree of disease activity was assessed by Systemic Lupus Erythematosus Disease Activity Score (SLE-DAS). Foxp33279 (rs3761548 C/A) gene polymorphism was detected using the polymerase chain reaction restriction fragment length polymorphism-based analysis (PCR-RFLP). We found that AA and AC genotypes significantly increased the risk of SLE by 7.25 and 2.88 folds, respectively (p<0.001) and A allele significantly increased that risk by 3.12 folds (p<0.001). AA genotype significantly increased the risk of SLE moderate–severe disease activity and risk of lupus nephritis by 33.6 folds (p<0.001). In conclusion, Foxp3 3279 (rs3761548 C/A) gene polymorphism was associated with the risk of SLE and lupus nephritis. The relation of this SNP with SLE disease activity highlighted the role of Foxp3 gene in SLE pathogenesis and manifestations that could potentially enhance the management of SLE patients by identifying each person’s unique response to treatment.

Keywords:
SLE, Foxp3, RFLP, LN.

Date received:
07 June 2024; accepted: 24 July 2024

PMID:
39818687

 

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