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<p>Pemphigus vulgaris (PV) and bullous pemphigoid (BP) are autoimmune blistering diseases which affect the skin and mucous membranes. Immunity-related genes, such as the Forkhead Box P3 (<i>FOXP3</i>) X-linked gene, implicated in T regulatory (Treg) cell function and immune homeostasis, may play a role in predisposition of both diseases. This preliminary study aimed to investigate the genetic association of the rs3761548 (C &gt; A) <i>FOXP3</i> promoter variant in PV and BP susceptibility. Forty-four unrelated PV patients, fifty-seven BP patients, and fifty-seven healthy individuals were enrolled in the study. Genotyping for rs3761548 was performed using the polymerase chain reaction-restriction fragment length polymorphism assay (PCR-RFLP). Statistical analyses were conducted using the SPSS software. Statistically significant differences were observed in rs3761548 genotype distributions between female PV patients and controls demonstrating that the heterozygous (CA) genotype is associated with PV susceptibility. No association was observed between the rs3761548 variant and BP. The heterozygous rs3761548 genotype may contribute to PV susceptibility due to the presence of the A allele and methylation of the C allele, both reducing <i>FOXP3</i> gene expression and impairing Treg function. Further genetic association studies across diverse ethnic populations, along with functional analyses, are necessary to confirm these findings and validate the genetic association of rs3761548 variant in predisposing individuals to PV.</p>

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FOXP3 gene variant rs3761548 in pemphigus vulgaris and bullous pemphigoid

  • 期刊论文

  • 发表日期：

    2025年11月10日

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  • Charoula Achilla,
  • Parthena Meltzanidou,
  • Alexandros Lambropoulos,
  • Aikaterini Patsatsi,
  • Anthoula Chatzikyriakidou

摘要

Pemphigus vulgaris (PV) and bullous pemphigoid (BP) are autoimmune blistering diseases which affect the skin and mucous membranes. Immunity-related genes, such as the Forkhead Box P3 (FOXP3) X-linked gene, implicated in T regulatory (Treg) cell function and immune homeostasis, may play a role in predisposition of both diseases. This preliminary study aimed to investigate the genetic association of the rs3761548 (C > A) FOXP3 promoter variant in PV and BP susceptibility. Forty-four unrelated PV patients, fifty-seven BP patients, and fifty-seven healthy individuals were enrolled in the study. Genotyping for rs3761548 was performed using the polymerase chain reaction-restriction fragment length polymorphism assay (PCR-RFLP). Statistical analyses were conducted using the SPSS software. Statistically significant differences were observed in rs3761548 genotype distributions between female PV patients and controls demonstrating that the heterozygous (CA) genotype is associated with PV susceptibility. No association was observed between the rs3761548 variant and BP. The heterozygous rs3761548 genotype may contribute to PV susceptibility due to the presence of the A allele and methylation of the C allele, both reducing FOXP3 gene expression and impairing Treg function. Further genetic association studies across diverse ethnic populations, along with functional analyses, are necessary to confirm these findings and validate the genetic association of rs3761548 variant in predisposing individuals to PV.