ASSOCIATION OF FOXP3 GENE VARIANTS WITH RISK OF HASHIMOTO'S THYROIDITIS AND CORRELATION WITH ANTI-TPO ANTIBODY LEVELS

Area of Science:

• Immunogenetics
• Molecular Biology
• Endocrinology

Background:

• Regulatory T cells (Tregs) are crucial for immune tolerance and preventing autoimmune diseases like Hashimoto's thyroiditis (HT).
• Forkhead box P3 (Foxp3) is a key transcription factor essential for Treg development and function.

Purpose of the Study:

• To investigate the association between specific single nucleotide polymorphisms (SNPs) in the Foxp3 gene and the risk of developing HT.
• To explore the relationship between these Foxp3 gene variants and anti-thyroid peroxidase (ATPO) antibody levels in HT patients.

Main Methods:

• Genotyping of 129 HT patients and 127 healthy controls for Foxp3 gene SNPs rs3761548 and rs3761549 using polymerase chain reaction-restriction fragment length polymorphism.
• Statistical analysis to compare genotypic and allelic frequencies between patient and control groups.

Main Results:

• The rs3761548 SNP in the Foxp3 gene showed a significant association with HT development.
• Patients with the CC genotype and C allele of rs3761548 had increased susceptibility to HT.
• The rs3761548 CC genotype was linked to significantly higher serum ATPO antibody levels, while the AC genotype was associated with decreased ATPO levels.

Conclusions:

• The rs3761548 SNP in the Foxp3 gene is associated with an increased risk of HT.
• Foxp3 gene variations may play a role in the pathogenesis of HT by influencing immune responses and antibody production.