IL23R
Interleukin-23 receptor
Gene Number: 149233
Location: 1p31.3
Key Functions: Inflammatory signaling, T-helper 17 (Th17) cell regulation, immune response modulation, autoimmune disease susceptibility
IL23R encodes the interleukin-23 receptor (IL-23R), a transmembrane receptor that plays a pivotal role in shaping both innate and adaptive immune responses [R].
The most extensively studied variant, Arg381Gln (rs11209026), results in a hypofunctional receptor with reduced STAT3 activation and attenuated Th17 responses. This variant confers protective effects against conditions such as Crohn’s disease, ulcerative colitis, ankylosing spondylitis, and psoriasis [R]. Conversely, gain-of-function variants or increased IL-23R expression can enhance inflammatory signaling, heightening the risk for autoimmune pathogenesis and chronic tissue inflammation.
SNP ID | Your Genotype | Alternative Alleles | Interpretation |
|---|---|---|---|
rs11209026 | Analyze your DNA to see your genotype | A | Analyze your DNA to see a personalized result. |
rs11465804 | Analyze your DNA to see your genotype | G | Analyze your DNA to see a personalized result. |
rs11209026
GG –Normal; associated with higher risk for certain autoimmune diseases (R).
AG – 0.26× lower risk for several autoimmune diseases (R).
AA – 0.26× lower risk for several autoimmune diseases (R).
Functional effect: The A allele is protective, reducing autoimmune disease risk through altered IL-23 receptor signaling.
rs11465804
TT – Normal reference; baseline risk (R).
CT – 0.68× lower risk for ankylosing spondylitis (R).
CC – 0.68x lower risk for spondylitis (R).
Functional effect: The C allele reduces susceptibility to inflammatory joint disease, likely through IL-23 receptor pathway modulation.
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