• Gene: PRKCQ (Protein Kinase C Theta)

• Chromosome: 10p15.1

• Position (GRCh38): Chr10: 6472887

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

• T allele

• Located in an intronic regulatory region

• Associated with increased PRKCQ expression in T cells

• May affect enhancer activity or transcription factor binding sites regulating PKC-θ production

• Higher PKC-θ levels enhance T-cell receptor (TCR) signaling

• Promotes activation of downstream transcription factors (NF-κB, NFAT, AP-1)

• Contributes to increased IL-2 and IFN-γ production, supporting Th1/Th17 differentiation

• Reduced Treg dominance → higher autoimmunity potential

• European (EUR): T allele ~35–40%

• East Asian (EAS): T allele ~15–20%

• African (AFR): T allele ~30–35%

  (Source: gnomAD, 1000 Genomes)

• PRKCQ, CD28, TCR signaling cascade

• NF-κB signaling

• Th17 and Th1 pathway polarization

• T-cell costimulation

• Immune synapse formation

• Autoimmune Addison’s Disease

• Type 1 Diabetes

• Rheumatoid Arthritis

• Psoriasis

• rs947474 was one of the non-HLA hits identified in European Addison’s GWAS studies

• Functional studies show elevated PKC-θ expression leads to hyper-responsive effector T cells

• Mice deficient in PRKCQ are resistant to T-cell–driven autoimmunity

• rs947474 contributes to an aggressive T-cell activation profile

• Helps define individuals with a Th1-biased immune architecture, relevant to organ-targeting autoimmune diseases

• Being explored as a target in immunosuppressive therapies

• Contributes to heightened immune aggression in genetically susceptible individuals

• Relevant in conditions involving organ-specific targeting, such as adrenal cortex destruction in Addison’s

• Emerging as a target for immunomodulation research, especially in balancing CD226/TIGIT signaling axis

rs947474 is a regulatory SNP in PRKCQ that amplifies T-cell signaling by enhancing expression of PKC-θ. This makes it a prime suspect in diseases like Addison’s, where T-cell hyperactivity drives adrenal destruction. It’s a potential marker for autoimmune risk and therapeutic targeting.

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