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STAT4

Signal Transducer and Activator of Transcription 4

Gene Number: 6775

Location: 2q32.2–q32.3

Key Functions: JAK–STAT signaling, Th1/Th17 differentiation, interferon signaling, cytokine-driven immune activation, autoimmune disease susceptibility


STAT4 encodes Signal Transducer and Activator of Transcription 4, a core transcription factor that helps convert cytokine signals into immune gene-expression programs. It is particularly important downstream of IL-12 and type I interferon signaling, where it promotes Th1-skewed immunity, supports inflammatory cytokine production, and amplifies immune responses that can become pathogenic in autoimmunity [R].


STAT4 activity is most notable in conditions where immune activation is sustained or misdirected. Across large genetic studies, common STAT4 variants—especially those tagging intronic regulatory haplotypes—have been repeatedly associated with rheumatoid arthritis, systemic lupus erythematosus, Sjögren’s syndrome, type 1 diabetes, and primary biliary cholangitis, reflecting a shared inflammatory pathway across autoimmune diseases [R].


At GenesUnveiled, your STAT4 variants contribute to health reports related to autoimmune tendency, inflammatory signaling balance, and immune-driven disease susceptibility.

SNP ID
Your Genotype
Alternative Alleles
Interpretation
rs7574865
Analyze your DNA to see your genotype
T
Analyze your DNA to see a personalized result.
rs7574865
  • GG – Normal risk of rheumatoid arthritis, SLE, Sjögren’s syndrome, type-1 diabetes, and primary biliary cirrhosis/cholangitis (R).

  • GT – Increased risk: ~1.3× rheumatoid arthritis; ~1.55× SLE; ~1.42× Sjögren’s syndrome; increased risk of type-1 diabetes; increased risk of primary biliary cirrhosis/cholangitis (R).

  • TT – Higher risk: ~1.69× rheumatoid arthritis; ~2.4× SLE; ~2.28× Sjögren’s syndrome; increased risk of type-1 diabetes; increased risk of primary biliary cirrhosis/cholangitis (R).

Functional effect: The T allele tags a STAT4 regulatory haplotype associated with stronger cytokine-driven immune activation (Th1/IFN-skew), increasing susceptibility across multiple autoimmune diseases.


Learn more about what you can do to mitigate risks, and other factors involved by becoming a member of GenesUnveiled today!

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