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Lupus disease activity state and Foxp3 gene polymorphism.

Hanaa I Abd El-Hady1, Enas I Abdelhady2, Mai A Kamel1

  • 1Department of Medical Microbiology and Immunology, Faculty of Medicine, Zagazig University, Zagazig, Egypt.

The Egyptian Journal of Immunology
|January 17, 2025
PubMed
Summary

The Foxp3 gene

Area of Science:

  • Immunogenetics
  • Rheumatology
  • Molecular Biology

Background:

  • Systemic lupus erythematosus (SLE) is a complex autoimmune disease with diverse clinical manifestations.
  • Fork head box protein 3 (Foxp3) is a crucial transcription factor for regulatory T (T-reg) cell function.
  • Genetic variations, specifically single-nucleotide polymorphisms (SNPs), in immune-related genes can influence autoimmune disease susceptibility.

Purpose of the Study:

  • To investigate the association between the functional Foxp3-3279 (rs3761548 C/A) gene polymorphism and the risk of developing SLE.
  • To evaluate the relationship between this polymorphism and the disease activity status in SLE patients, including lupus nephritis.

Main Methods:

  • A case-control study design was employed, including diagnosed SLE patients and controls.

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  • Disease activity was quantified using the Systemic Lupus Erythematosus Disease Activity Score (SLE-DAS).
  • Genotyping for the Foxp3-3279 (rs3761548 C/A) polymorphism was performed using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) analysis.

    • Main Results:

    • The AA and AC genotypes of the Foxp3-3279 polymorphism were significantly associated with an increased risk of SLE (7.25-fold and 2.88-fold, respectively).
    • The A allele demonstrated a 3.12-fold increased risk for SLE development.
    • The AA genotype was strongly linked to moderate-to-severe SLE disease activity and a 33.6-fold increased risk of lupus nephritis.

    Conclusions:

    • The Foxp3 -3279 (rs3761548 C/A) gene polymorphism is significantly associated with both the risk of developing SLE and the occurrence of lupus nephritis.
    • This genetic variation's link to SLE disease activity underscores the role of the Foxp3 gene in SLE pathogenesis and clinical presentation.
    • Identifying this SNP may offer insights for personalized treatment strategies in SLE management.