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 [R]. 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].
SNP ID | Your Genotype | Alt Allele | 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.
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