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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
Alt Allele
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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