• Gene: IL2RA (Interleukin 2 Receptor Alpha, also known as CD25)

• Chromosome: 10p15.1

• Position (GRCh38): Chr10: 6099040

• Location Within Gene: Intron 1 (non-coding regulatory region)

• T allele
  

• rs2104286 lies within a regulatory region that influences IL2RA expression in T cells

• The T allele is associated with reduced CD25 expression, especially on regulatory T cells (Tregs)

• Leads to weaker IL-2 signal transduction, compromising immune regulation

• IL2RA is a key receptor chain for interleukin-2, crucial for Treg survival and function

• T allele impairs Treg-mediated suppression, increasing the chance of autoreactive T-cell escape

• Also affects effector T-cell activation threshold and immune homeostasis

• European (EUR): T allele ~35–40%

• East Asian (EAS): T allele ~25–30%

• African (AFR): T allele ~30–35%
  (Source: gnomAD, 1000 Genomes)

• IL2RA, FOXP3, STAT5, IL2, CD4

• IL-2 receptor signaling pathway

• Treg cell development and function

• Peripheral immune tolerance

• Autoimmune Addison’s Disease

• Type 1 Diabetes

• Multiple Sclerosis

• Rheumatoid Arthritis

• Psoriasis

• Autoimmune Thyroid Disease

• rs2104286 is a top-ranked SNP in autoimmune GWAS, especially for Addison’s and MS

• T allele linked to deficient Treg function and persistent inflammation

• Frequently included in polygenic risk scoring for T1D and other early-onset autoimmune diseases

• Individuals with the T allele may have impaired T-cell regulation, leading to poor immune self-tolerance

• rs2104286 is a strong candidate for immunogenetic screening, particularly when paired with HLA risk alleles

• CD25-targeting therapies (e.g., daclizumab) may be influenced by this SNP

rs2104286 in IL2RA is a regulatory SNP that impairs IL-2 signaling by lowering CD25 expression. It compromises Treg function, increasing risk for Addison’s and a range of other autoimmune diseases by weakening immune self-tolerance.

ItemThis SNP report is intended for informational and educational purposes only. It should not be used to diagnose or treat any health condition. All genetic findings must be interpreted by qualified medical professionals in the context of clinical and family history. description