• Gene: SOCS1 (Suppressor of Cytokine Signaling 1)

• Chromosome: 16p13.13

• Position (GRCh38): Chr16: 11349242

• Location Within Gene: 5′ untranslated region (5′ UTR / promoter region)
  

• T allele
  
  

• rs243324 is located in the promoter region of the SOCS1 gene

• The T allele is associated with reduced transcriptional activity, leading to lower SOCS1 expression

• This decreases the gene’s ability to negatively regulate cytokine signaling, especially via the JAK-STAT pathway

• Reduced SOCS1 function results in prolonged cytokine signaling

• Enhances Th1/Th17-mediated immune responses

• Promotes uncontrolled inflammatory signaling, particularly in response to IFN-γ and IL-6

• European (EUR): T allele ~30–35%

• East Asian (EAS): T allele ~15–20%

• African (AFR): T allele ~25–30%
  (Source: gnomAD, HapMap))

• SOCS1, JAK1, STAT1, STAT3, STAT6

• JAK-STAT signaling suppression

• Cytokine feedback inhibition

• Immune tolerance and checkpoint control

• Autoimmune Addison’s Disease

• Type 1 Diabetes

• Systemic Lupus Erythematosus

• Rheumatoid Arthritis

• Psoriasis

• Multiple Sclerosis
  
  

• rs243324 has been linked to lower SOCS1 expression in immune cells

• GWAS studies connect this SNP to Addison’s, T1D, and other autoimmune disorders

• Animal models lacking SOCS1 develop lethal inflammation, emphasizing its regulatory importance
  
  

• Individuals with the T allele may be predisposed to cytokine-driven autoimmune reactions

• This SNP is an important component of cytokine sensitivity profiling

• A potential marker for predicting response to JAK inhibitor therapies

rs243324 is a promoter SNP in SOCS1 that reduces the gene’s expression, resulting in prolonged cytokine signaling. Its association with Addison’s and other autoimmune diseases highlights its role as a key inflammation brake that, when weakened, can fuel autoimmunity.

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